YAMAKAWA Kazuhiro

Researcher Information

Degree

• Ph.D.（Osaka University）

URL

http://www.med.nagoya-cu.ac.jp/neurogenet/

Research funding number

• 30241235

ORCID ID

•  https://orcid.org/0000-0002-1478-4390

J-Global ID

• 200901022353508239

Research Interests

• disease responsible genes   intellectual disability   autism   epilepsy   

Research Areas

• Life sciences / Psychiatry
• Life sciences / Fetal medicine/Pediatrics
• Life sciences / Medical biochemistry

Published Papers

• Genome-wide association meta-analyses of drug-resistant epilepsy.

  Costin Leu; Andreja Avbersek; Remi Stevelink; Helena Martins Custodio; Siwei Chen; Doug Speed; Caitlin A Bennett; Lina Jonsson; Unnur Unnsteinsdóttir; Andrea L Jorgensen; Gianpiero L Cavalleri; Norman Delanty; John J Craig; Chantal Depondt; Michael R Johnson; Bobby P C Koeleman; Emadeldin Hassanin; Maryam Erfanian Omidvar; Roland Krause; Holger Lerche; Anthony G Marson; Terence J O'Brien; Josemir W Sander; Graeme J Sills; Pasquale Striano; Federico Zara; Hreinn Stefansson; Kari Stefansson; Patrick May; Benjamin M Neale; Dennis Lal; Samuel F Berkovic; Sanjay M Sisodiya

  EBioMedicine 105675 - 105675 2025/04
• Chapter 44. Sodium Channelopathies in Human and Animal Models of Epilepsy and Neurodevelopmental Disorders.

  Yamakawa K.; Meisler MH; Isom LL

  Jasper's Basic Mechanisms of the Epilepsies. 5th ed. 2024/11
• An AI-Driven Model of Consciousness, Its Disorders, and Their Treatment

  Daniel Toker; Jasmine A. Thum; Jing Guang; Hiroyuki Miyamoto; Kazuhiro Yamakawa; Paul M. Vespa; Caroline Schnakers; Ausaf A. Bari; Andrew Hudson; Nader Pouratian; Martin M. Monti

  Cold Spring Harbor Laboratory 2024/10
• Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

  Siwei Chen; Bassel W. Abou-Khalil; Zaid Afawi; Quratulain Zulfiqar Ali; Elisabetta Amadori; Alison Anderson; Joe Anderson; Danielle M. Andrade; Grazia Annesi; Mutluay Arslan; Pauls Auce; Melanie Bahlo; Mark D. Baker; Ganna Balagura; Simona Balestrini; Eric Banks; Carmen Barba; Karen Barboza; Fabrice Bartolomei; Nick Bass; Larry W. Baum; Tobias H. Baumgartner; Betül Baykan; Nerses Bebek; Felicitas Becker; Caitlin A. Bennett; Ahmad Beydoun; Claudia Bianchini; Francesca Bisulli; Douglas Blackwood; Ilan Blatt; Ingo Borggräfe; Christian Bosselmann; Vera Braatz; Harrison Brand; Knut Brockmann; Russell J. Buono; Robyn M. Busch; S. Hande Caglayan; Laura Canafoglia; Christina Canavati; Barbara Castellotti; Gianpiero L. Cavalleri; Felecia Cerrato; Francine Chassoux; Christina Cherian; Stacey S. Cherny; Ching-Lung Cheung; I-Jun Chou; Seo-Kyung Chung; Claire Churchhouse; Valentina Ciullo; Peggy O. Clark; Andrew J. Cole; Mahgenn Cosico; Patrick Cossette; Chris Cotsapas; Caroline Cusick; Mark J. Daly; Lea K. Davis; Peter De Jonghe; Norman Delanty; Dieter Dennig; Chantal Depondt; Philippe Derambure; Orrin Devinsky; Lidia Di Vito; Faith Dickerson; Dennis J. Dlugos; Viola Doccini; Colin P. Doherty; Hany El-Naggar; Colin A. Ellis; Leon Epstein; Meghan Evans; Annika Faucon; Yen-Chen Anne Feng; Lisa Ferguson; Thomas N. Ferraro; Izabela Ferreira Da Silva; Lorenzo Ferri; Martha Feucht; Madeline C. Fields; Mark Fitzgerald; Beata Fonferko-Shadrach; Francesco Fortunato; Silvana Franceschetti; Jacqueline A. French; Elena Freri; Jack M. Fu; Stacey Gabriel; Monica Gagliardi; Antonio Gambardella; Laura Gauthier; Tania Giangregorio; Tommaso Gili; Tracy A. Glauser; Ethan Goldberg; Alica Goldman; David B. Goldstein; Tiziana Granata; Riley Grant; David A. Greenberg; Renzo Guerrini; Aslı Gundogdu-Eken; Namrata Gupta; Kevin Haas; Hakon Hakonarson; Garen Haryanyan; Martin Häusler; Manu Hegde; Erin L. Heinzen; Ingo Helbig; Christian Hengsbach; Henrike Heyne; Shinichi Hirose; Edouard Hirsch; Chen-Jui Ho; Olivia Hoeper; Daniel P. Howrigan; Donald Hucks; Po-Chen Hung; Michele Iacomino; Yushi Inoue; Luciana Midori Inuzuka; Atsushi Ishii; Lara Jehi; Michael R. Johnson; Mandy Johnstone; Reetta Kälviäinen; Moien Kanaan; Bulent Kara; Symon M. Kariuki; Josua Kegele; Yeşim Kesim; Nathalie Khoueiry-Zgheib; Jean Khoury; Chontelle King; Karl Martin Klein; Gerhard Kluger; Susanne Knake; Fernando Kok; Amos D. Korczyn; Rudolf Korinthenberg; Andreas Koupparis; Ioanna Kousiappa; Roland Krause; Martin Krenn; Heinz Krestel; Ilona Krey; Wolfram S. Kunz; Gerhard Kurlemann; Ruben I. Kuzniecky; Patrick Kwan; Maite La Vega-Talbott; Angelo Labate; Austin Lacey; Dennis Lal; Petra Laššuthová; Stephan Lauxmann; Charlotte Lawthom; Stephanie L. Leech; Anna-Elina Lehesjoki; Johannes R. Lemke; Holger Lerche; Gaetan Lesca; Costin Leu; Naomi Lewin; David Lewis-Smith; Gloria Hoi-Yee Li; Calwing Liao; Laura Licchetta; Chih-Hsiang Lin; Kuang-Lin Lin; Tarja Linnankivi; Warren Lo; Daniel H. Lowenstein; Chelsea Lowther; Laura Lubbers; Colin H. T. Lui; Lucia Inês Macedo-Souza; Rene Madeleyn; Francesca Madia; Stefania Magri; Louis Maillard; Lara Marcuse; Paula Marques; Anthony G. Marson; Abigail G. Matthews; Patrick May; Thomas Mayer; Wendy McArdle; Steven M. McCarroll; Patricia McGoldrick; Christopher M. McGraw; Andrew McIntosh; Andrew McQuillan; Kimford J. Meador; Davide Mei; Véronique Michel; John J. Millichap; Raffaella Minardi; Martino Montomoli; Barbara Mostacci; Lorenzo Muccioli; Hiltrud Muhle; Karen Müller-Schlüter; Imad M. Najm; Wassim Nasreddine; Samuel Neaves; Bernd A. Neubauer; Charles R. J. C. Newton; Jeffrey L. Noebels; Kate Northstone; Sam Novod; Terence J. O’Brien; Seth Owusu-Agyei; Çiğdem Özkara; Aarno Palotie; Savvas S. Papacostas; Elena Parrini; Carlos Pato; Michele Pato; Manuela Pendziwiat; Page B. Pennell; Slavé Petrovski; William O. Pickrell; Rebecca Pinsky; Dalila Pinto; Tommaso Pippucci; Fabrizio Piras; Federica Piras; Annapurna Poduri; Federica Pondrelli; Danielle Posthuma; Robert H. W. Powell; Michael Privitera; Annika Rademacher; Francesca Ragona; Byron Ramirez-Hamouz; Sarah Rau; Hillary R. Raynes; Mark I. Rees; Brigid M. Regan; Andreas Reif; Eva Reinthaler; Sylvain Rheims; Susan M. Ring; Antonella Riva; Enrique Rojas; Felix Rosenow; Philippe Ryvlin; Anni Saarela; Lynette G. Sadleir; Barış Salman; Andrea Salmon; Vincenzo Salpietro; Ilaria Sammarra; Marcello Scala; Steven Schachter; André Schaller; Christoph J. Schankin; Ingrid E. Scheffer; Natascha Schneider; Susanne Schubert-Bast; Andreas Schulze-Bonhage; Paolo Scudieri; Lucie Sedláčková; Catherine Shain; Pak C. Sham; Beth R. Shiedley; S. Anthony Siena; Graeme J. Sills; Sanjay M. Sisodiya; Jordan W. Smoller; Matthew Solomonson; Gianfranco Spalletta; Kathryn R. Sparks; Michael R. Sperling; Hannah Stamberger; Bernhard J. Steinhoff; Ulrich Stephani; Katalin Štěrbová; William C. Stewart; Carlotta Stipa; Pasquale Striano; Adam Strzelczyk; Rainer Surges; Toshimitsu Suzuki; Mariagrazia Talarico; Michael E. Talkowski; Randip S. Taneja; George A. Tanteles; Oskari Timonen; Nicholas John Timpson; Paolo Tinuper; Marian Todaro; Pınar Topaloglu; Meng-Han Tsai; Birute Tumiene; Dilsad Turkdogan; Sibel Uğur-İşeri; Algirdas Utkus; Priya Vaidiswaran; Luc Valton; Andreas van Baalen; Maria Stella Vari; Annalisa Vetro; Markéta Vlčková; Sophie von Brauchitsch; Sarah von Spiczak; Ryan G. Wagner; Nick Watts; Yvonne G. Weber; Sarah Weckhuysen; Peter Widdess-Walsh; Samuel Wiebe; Steven M. Wolf; Markus Wolff; Stefan Wolking; Isaac Wong; Randi von Wrede; David Wu; Kazuhiro Yamakawa; Zuhal Yapıcı; Uluc Yis; Robert Yolken; Emrah Yücesan; Sara Zagaglia; Felix Zahnert; Federico Zara; Fritz Zimprich; Milena Zizovic; Gábor Zsurka; Benjamin M. Neale; Samuel F. Berkovic

  Nature Neuroscience Springer Science and Business Media LLC 27 (10) 1864 - 1879 1097-6256 2024/10
• Epilepsy protein myoclonin1 interacts with inositol 1,4,5-trisphosphate (IP3) receptor and reduces Ca2+ store in endoplasmic reticulum

  Toshimitsu Suzuki; Kripamoy Aguan; Hideaki Mizuno; Takeshi Nakamura; Ikuyo Inoue; Katsuhiko Mikoshiba; Atsushi Miyawaki; Kazuhiro Yamakawa

  Cold Spring Harbor Laboratory 2024/07
• Generation and characterization of cerebellar granule neurons specific knockout mice of Golli-MBP.

  Haruko Miyazaki; Saki Nishioka; Tomoyuki Yamanaka; Manabu Abe; Yukio Imamura; Tomohiro Miyasaka; Nobuto Kakuda; Toshitaka Oohashi; Tomomi Shimogori; Kazuhiro Yamakawa; Masahito Ikawa; Nobuyuki Nukina

  Transgenic research 33 (3) 99 - 117 2024/04
• Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment

  Hideo Hagihara; Hirotaka Shoji; Satoko Hattori; Giovanni Sala; Yoshihiro Takamiya; Mika Tanaka; Masafumi Ihara; Mihiro Shibutani; Izuho Hatada; Kei Hori; Mikio Hoshino; Akito Nakao; Yasuo Mori; Shigeo Okabe; Masayuki Matsushita; Anja Urbach; Yuta Katayama; Akinobu Matsumoto; Keiichi I Nakayama; Shota Katori; Takuya Sato; Takuji Iwasato; Haruko Nakamura; Yoshio Goshima; Matthieu Raveau; Tetsuya Tatsukawa; Kazuhiro Yamakawa; Noriko Takahashi; Haruo Kasai; Johji Inazawa; Ikuo Nobuhisa; Tetsushi Kagawa; Tetsuya Taga; Mohamed Darwish; Hirofumi Nishizono; Keizo Takao; Kiran Sapkota; Kazutoshi Nakazawa; Tsuyoshi Takagi; Haruki Fujisawa; Yoshihisa Sugimura; Kyosuke Yamanishi; Lakshmi Rajagopal; Nanette Deneen Hannah; Herbert Y Meltzer; Tohru Yamamoto; Shuji Wakatsuki; Toshiyuki Araki; Katsuhiko Tabuchi; Tadahiro Numakawa; Hiroshi Kunugi; Freesia L Huang; Atsuko Hayata-Takano; Hitoshi Hashimoto; Kota Tamada; Toru Takumi; Takaoki Kasahara; Tadafumi Kato; Isabella A Graef; Gerald R Crabtree; Nozomi Asaoka; Hikari Hatakama; Shuji Kaneko; Takao Kohno; Mitsuharu Hattori; Yoshio Hoshiba; Ryuhei Miyake; Kisho Obi-Nagata; Akiko Hayashi-Takagi; Léa J Becker; Ipek Yalcin; Yoko Hagino; Hiroko Kotajima-Murakami; Yuki Moriya; Kazutaka Ikeda; Hyopil Kim; Bong-Kiun Kaang; Hikari Otabi; Yuta Yoshida; Atsushi Toyoda; Noboru H Komiyama; Seth GN Grant; Michiru Ida-Eto; Masaaki Narita; Ken-ichi Matsumoto; Emiko Okuda-Ashitaka; Iori Ohmori; Tadayuki Shimada; Kanato Yamagata; Hiroshi Ageta; Kunihiro Tsuchida; Kaoru Inokuchi; Takayuki Sassa; Akio Kihara; Motoaki Fukasawa; Nobuteru Usuda; Tayo Katano; Teruyuki Tanaka; Yoshihiro Yoshihara; Michihiro Igarashi; Takashi Hayashi; Kaori Ishikawa; Satoshi Yamamoto; Naoya Nishimura; Kazuto Nakada; Shinji Hirotsune; Kiyoshi Egawa; Kazuma Higashisaka; Yasuo Tsutsumi; Shoko Nishihara; Noriyuki Sugo; Takeshi Yagi; Naoto Ueno; Tomomi Yamamoto; Yoshihiro Kubo; Rie Ohashi; Nobuyuki Shiina; Kimiko Shimizu; Sayaka Higo-Yamamoto; Katsutaka Oishi; Hisashi Mori; Tamio Furuse; Masaru Tamura; Hisashi Shirakawa; Daiki X Sato; Yukiko U Inoue; Takayoshi Inoue; Yuriko Komine; Tetsuo Yamamori; Kenji Sakimura; Tsuyoshi Miyakawa

  eLife eLife Sciences Publications, Ltd 12 2024/03
• Suppression ofSleeping Beauty-induced Gliomagenicity in Ts1Cje Mice, a Model of Down Syndrome

  KEIICHI ISHIHARA; RYUTO SAKODA; MASAKO MIZOGUCHI; MITSUGU FUJITA; CHIAMI MOYAMA; YURI OKUTANI; KAZUYUKI TAKATA; MIWA TANAKA; TAKASHI MINAMI; HARUHIKO SAGO; KAZUHIRO YAMAKAWA; TAKURO NAKAMURA; ERI KAWASHITA; SATOSHI AKIBA; SUSUMU NAKATA

  Anticancer Research Anticancer Research USA Inc. 44 (2) 489 - 495 0250-7005 2024/02
• Neuronal DSCAM regulates the peri-synaptic localization of GLAST in Bergmann glia for functional synapse formation

  Ken-ichi Dewa; Nariko Arimura; Wataru Kakegawa; Masayuki Itoh; Toma Adachi; Satoshi Miyashita; Yukiko U. Inoue; Kento Hizawa; Kei Hori; Natsumi Honjoya; Haruya Yagishita; Shinichiro Taya; Taisuke Miyazaki; Chika Usui; Shoji Tatsumoto; Akiko Tsuzuki; Hirotomo Uetake; Kazuhisa Sakai; Kazuhiro Yamakawa; Takuya Sasaki; Jun Nagai; Yoshiya Kawaguchi; Masaki Sone; Takayoshi Inoue; Yasuhiro Go; Noritaka Ichinohe; Kozo Kaibuchi; Masahiko Watanabe; Schuichi Koizumi; Michisuke Yuzaki; Mikio Hoshino

  Nature Communications Springer Science and Business Media LLC 15 (1) 2024/02
• Inversed Effects of Nav1.2 Deficiency at Medial Prefrontal Cortex and Ventral Tegmental Area for Prepulse Inhibition in Acoustic Startle Response.

  Toshimitsu Suzuki; Satoko Hattori; Hiroaki Mizukami; Ryuichi Nakajima; Yurina Hibi; Saho Kato; Mahoro Matsuzaki; Ryu Ikebe; Tsuyoshi Miyakawa; Kazuhiro Yamakawa

  Molecular neurobiology 2024/02
• Criticality supports cross-frequency cortical-thalamic information transfer during conscious states.

  Daniel Toker; Eli Müller; Hiroyuki Miyamoto; Maurizio S Riga; Laia Lladó-Pelfort; Kazuhiro Yamakawa; Francesc Artigas; James M Shine; Andrew E Hudson; Nader Pouratian; Martin M Monti

  eLife 13 2024/01
• GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

  Remi Stevelink; Ciarán Campbell; Siwei Chen; Bassel Abou-Khalil; Oluyomi M. Adesoji; Zaid Afawi; Elisabetta Amadori; Alison Anderson; Joseph Anderson; Danielle M. Andrade; Grazia Annesi; Pauls Auce; Andreja Avbersek; Melanie Bahlo; Mark D. Baker; Ganna Balagura; Simona Balestrini; Carmen Barba; Karen Barboza; Fabrice Bartolomei; Thomas Bast; Larry Baum; Tobias Baumgartner; Betül Baykan; Nerses Bebek; Albert J. Becker; Felicitas Becker; Caitlin A. Bennett; Bianca Berghuis; Samuel F. Berkovic; Ahmad Beydoun; Claudia Bianchini; Francesca Bisulli; Ilan Blatt; Dheeraj R. Bobbili; Ingo Borggraefe; Christian Bosselmann; Vera Braatz; Jonathan P. Bradfield; Knut Brockmann; Lawrence C. Brody; Russell J. Buono; Robyn M. Busch; Hande Caglayan; Ellen Campbell; Laura Canafoglia; Christina Canavati; Gregory D. Cascino; Barbara Castellotti; Claudia B. Catarino; Gianpiero L. Cavalleri; Felecia Cerrato; Francine Chassoux; Stacey S. Cherny; Ching-Lung Cheung; Krishna Chinthapalli; I-Jun Chou; Seo-Kyung Chung; Claire Churchhouse; Peggy O. Clark; Andrew J. Cole; Alastair Compston; Antonietta Coppola; Mahgenn Cosico; Patrick Cossette; John J. Craig; Caroline Cusick; Mark J. Daly; Lea K. Davis; Gerrit-Jan de Haan; Norman Delanty; Chantal Depondt; Philippe Derambure; Orrin Devinsky; Lidia Di Vito; Dennis J. Dlugos; Viola Doccini; Colin P. Doherty; Hany El-Naggar; Christian E. Elger; Colin A. Ellis; Johan G. Eriksson; Annika Faucon; Yen-Chen A. Feng; Lisa Ferguson; Thomas N. Ferraro; Lorenzo Ferri; Martha Feucht; Mark Fitzgerald; Beata Fonferko-Shadrach; Francesco Fortunato; Silvana Franceschetti; Andre Franke; Jacqueline A. French; Elena Freri; Monica Gagliardi; Antonio Gambardella; Eric B. Geller; Tania Giangregorio; Leif Gjerstad; Tracy Glauser; Ethan Goldberg; Alicia Goldman; Tiziana Granata; David A. Greenberg; Renzo Guerrini; Namrata Gupta; Kevin F. Haas; Hakon Hakonarson; Kerstin Hallmann; Emadeldin Hassanin; Manu Hegde; Erin L. Heinzen; Ingo Helbig; Christian Hengsbach; Henrike O. Heyne; Shinichi Hirose; Edouard Hirsch; Helle Hjalgrim; Daniel P. Howrigan; Donald Hucks; Po-Cheng Hung; Michele Iacomino; Lukas L. Imbach; Yushi Inoue; Atsushi Ishii; Jennifer Jamnadas-Khoda; Lara Jehi; Michael R. Johnson; Reetta Kälviäinen; Yoichiro Kamatani; Moien Kanaan; Masahiro Kanai; Anne-Mari Kantanen; Bülent Kara; Symon M. Kariuki; Dalia Kasperavičiūte; Dorothee Kasteleijn-Nolst Trenite; Mitsuhiro Kato; Josua Kegele; Yeşim Kesim; Nathalie Khoueiry-Zgheib; Chontelle King; Heidi E. Kirsch; Karl M. Klein; Gerhard Kluger; Susanne Knake; Robert C. Knowlton; Bobby P. C. Koeleman; Amos D. Korczyn; Andreas Koupparis; Ioanna Kousiappa; Roland Krause; Martin Krenn; Heinz Krestel; Ilona Krey; Wolfram S. Kunz; Mitja I. Kurki; Gerhard Kurlemann; Ruben Kuzniecky; Patrick Kwan; Angelo Labate; Austin Lacey; Dennis Lal; Zied Landoulsi; Yu-Lung Lau; Stephen Lauxmann; Stephanie L. Leech; Anna-Elina Lehesjoki; Johannes R. Lemke; Holger Lerche; Gaetan Lesca; Costin Leu; Naomi Lewin; David Lewis-Smith; Gloria H.-Y. Li; Qingqin S. Li; Laura Licchetta; Kuang-Lin Lin; Dick Lindhout; Tarja Linnankivi; Iscia Lopes-Cendes; Daniel H. Lowenstein; Colin H. T. Lui; Francesca Madia; Sigurdur Magnusson; Anthony G. Marson; Patrick May; Christopher M. McGraw; Davide Mei; James L. Mills; Raffaella Minardi; Nasir Mirza; Rikke S. Møller; Anne M. Molloy; Martino Montomoli; Barbara Mostacci; Lorenzo Muccioli; Hiltrud Muhle; Karen Müller-Schlüter; Imad M. Najm; Wassim Nasreddine; Benjamin M. Neale; Bernd Neubauer; Charles R. J. C. Newton; Markus M. Nöthen; Michael Nothnagel; Peter Nürnberg; Terence J. O’Brien; Yukinori Okada; Elías Ólafsson; Karen L. Oliver; Çiğdem Özkara; Aarno Palotie; Faith Pangilinan; Savvas S. Papacostas; Elena Parrini; Carlos N. Pato; Michele T. Pato; Manuela Pendziwiat; Slavé Petrovski; William O. Pickrell; Rebecca Pinsky; Tommaso Pippucci; Annapurna Poduri; Federica Pondrelli; Rob H. W. Powell; Michael Privitera; Annika Rademacher; Rodney Radtke; Francesca Ragona; Sarah Rau; Mark I. Rees; Brigid M. Regan; Philipp S. Reif; Sylvain Rhelms; Antonella Riva; Felix Rosenow; Philippe Ryvlin; Anni Saarela; Lynette G. Sadleir; Josemir W. Sander; Thomas Sander; Marcello Scala; Theresa Scattergood; Steven C. Schachter; Christoph J. Schankin; Ingrid E. Scheffer; Bettina Schmitz; Susanne Schoch; Susanne Schubert-Bast; Andreas Schulze-Bonhage; Paolo Scudieri; Pak Sham; Beth R. Sheidley; Jerry J. Shih; Graeme J. Sills; Sanjay M. Sisodiya; Michael C. Smith; Philip E. Smith; Anja C. M. Sonsma; Doug Speed; Michael R. Sperling; Hreinn Stefansson; Kári Stefansson; Bernhard J. Steinhoff; Ulrich Stephani; William C. Stewart; Carlotta Stipa; Pasquale Striano; Hans Stroink; Adam Strzelczyk; Rainer Surges; Toshimitsu Suzuki; K. Meng Tan; R. S. Taneja; George A. Tanteles; Erik Taubøll; Liu Lin Thio; G. Neil Thomas; Rhys H. Thomas; Oskari Timonen; Paolo Tinuper; Marian Todaro; Pınar Topaloğlu; Rossana Tozzi; Meng-Han Tsai; Birute Tumiene; Dilsad Turkdogan; Unnur Unnsteinsdóttir; Algirdas Utkus; Priya Vaidiswaran; Luc Valton; Andreas van Baalen; Annalisa Vetro; Eileen P. G. Vining; Frank Visscher; Sophie von Brauchitsch; Randi von Wrede; Ryan G. Wagner; Yvonne G. Weber; Sarah Weckhuysen; Judith Weisenberg; Michael Weller; Peter Widdess-Walsh; Markus Wolff; Stefan Wolking; David Wu; Kazuhiro Yamakawa; Wanling Yang; Zuhal Yapıcı; Emrah Yücesan; Sara Zagaglia; Felix Zahnert; Federico Zara; Wei Zhou; Fritz Zimprich; Gábor Zsurka; Quratulain Zulfiqar Ali

  Nature Genetics Springer Science and Business Media LLC 1061-4036 2023/08 [Refereed]
  
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

  Ludovica Montanucci; David Lewis-Smith; Ryan L. Collins; Lisa-Marie Niestroj; Shridhar Parthasarathy; Julie Xian; Shiva Ganesan; Marie Macnee; Tobias Brünger; Rhys H. Thomas; Michael Talkowski; Joshua E. Motelow; Gundula Povysil; Ryan S. Dhindsa; Kate E. Stanley; Andrew S. Allen; David B. Goldstein; Yen-Chen Anne Feng; Daniel P. Howrigan; Liam E. Abbott; Katherine Tashman; Felecia Cerrato; Caroline Cusick; Tarjinder Singh; Henrike Heyne; Andrea E. Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Namrata Gupta; Benjamin M. Neale; Samuel F. Berkovic; Holger Lerche; Daniel H. Lowenstein; Gianpiero L. Cavalleri; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Hakon Hakonarson; Erin L. Heinzen; Ingo Helbig; Patrick Kwan; Anthony G. Marson; Slavé Petrovski; Sitharthan Kamalakaran; Sanjay M. Sisodiya; Randy Stewart; Sarah Weckhuysen; Chantal Depondt; Dennis J. Dlugos; Ingrid E. Scheffer; Pasquale Striano; Catharine Freyer; Roland Krause; Patrick May; Kevin McKenna; Brigid M. Regan; Caitlin A. Bennett; Stephanie L. Leech; Costin Leu; David Lewis-Smith; Terence J. O’Brien; Marian Todaro; Hannah Stamberger; Chantal Depondti; Danielle M. Andrade; Quratulain Zulfiqar Ali; Tara R. Sadoway; Heinz Krestel; André Schaller; Savvas S. Papacostas; Ioanna Kousiappa; George A. Tanteles; Christou Yiolanda; Katalin Štěrbová; Markéta Vlčková; Lucie Sedláčková; Petra Laššuthová; Karl Martin Klein; Felix Rosenow; Philipp S. Reif; Susanne Knake; Bernd A. Neubauer; Friedrich Zimprich; Martha Feucht; Eva Reinthaler; Wolfram S. Kunz; Gábor Zsurka; Rainer Surges; Tobias H. Baumgartner; Randi von Wrede; Ingo Helbig; Manuela Pendziwiat; Hiltrud Muhle; Annika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D. Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Müller-Schlüter; Gerhard Kluger; Martin Häusler; Ilan Blatt; Johannes R. Lemke; Ilona Krey; Yvonne G. Weber; Stefan Wolking; Felicitas Becker; Stephan Lauxmann; Christian Bosselmann; Josua Kegele; Christian Hengsbach; Sarah Rau; Bernhard J. Steinhoff; Andreas Schulze-Bonhage; Ingo Borggräfe; Christoph J. Schankin; Susanne Schubert-Bast; Herbert Schreiber; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Markus Wolff; Gerhard Kurlemann; Dieter Dennig; Rene Madeleyn; Reetta Kälviäinen; Anni Saarela; Oskari Timonen; Tarja Linnankivi; Anna-Elina Lehesjoki; Sylvain Rheims; Gaetan Lesca; Philippe Ryvlin; Louis Maillard; Luc Valton; Philippe Derambure; Fabrice Bartolomei; Edouard Hirsch; Véronique Michel; Francine Chassoux; Mark I. Rees; Seo-Kyung Chung; William O. Pickrell; Robert H. W. Powell; Mark D. Baker; Beata Fonferko-Shadrach; Charlotte Lawthom; Joe Anderson; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R. Johnson; Pauls Auce; Graeme J. Sills; Patrick Kwan; Larry W. Baum; Pak C. Sham; Stacey S. Cherny; Colin H. T. Lui; Norman Delanty; Colin P. Doherty; Arif Shukralla; Hany El-Naggar; Peter Widdess-Walsh; Nina Barišić; Laura Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Francesca Ragona; Federico Zara; Michele Iacomino; Antonella Riva; Francesca Madia; Maria Stella Vari; Vincenzo Salpietro; Marcello Scala; Maria Margherita Mancardi; Nobili Lino; Elisa Amadori; Thea Giacomini; Francesca Bisulli; Tommaso Pippucci; Laura Licchetta; Raffaella Minardi; Paolo Tinuper; Lorenzo Muccioli; Barbara Mostacci; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carmen Barba; Shinichi Hirose; Atsushi Ishii; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Ahmad Beydoun; Wassim Nasreddine; Nathalie Khoueiry-Zgheib; Birute Tumiene; Algirdas Utkus; Lynette G. Sadleir; Chontelle King; S. Hande Caglayan; Mutluay Arslan; Zuhal Yapıcı; Pınar Topaloglu; Bulent Kara; Uluc Yis; Dilsad Turkdogan; Aslı Gundogdu-Eken; Nerses Bebek; Sibel Uğur-İşeri; Betül Baykan; Barış Salman; Garen Haryanyan; Emrah Yücesan; Yeşim Kesim; Çiğdem Özkara; Meng-Han Tsai; Chen-Jui Ho; Chih-Hsiang Lin; Kuang-Lin Lin; I-Jun Chou; Annapurna Poduri; Beth R. Shiedley; Catherine Shain; Jeffrey L. Noebels; Alicia Goldman; Robyn M. Busch; Lara Jehi; Imad M. Najm; Dennis Lal; Lisa Ferguson; Jean Khoury; Tracy A. Glauser; Peggy O. Clark; Russell J. Buono; Thomas N. Ferraro; Michael R. Sperling; Dennis J. Dlugos; Warren Lo; Michael Privitera; Jacqueline A. French; Steven Schachter; Ruben I. Kuzniecky; Orrin Devinsky; Manu Hegde; David A. Greenberg; Colin A. Ellis; Ethan Goldberg; Katherine L. Helbig; Mahgenn Cosico; Priya Vaidiswaran; Eryn Fitch; Charles R. J. C. Newton; Symon M. Kariuki; Ryan G. Wagner; Seth Owusu-Agyei; Andrew J. Cole; Christopher M. McGraw; S. Anthony Siena; Lea Davis; Donald Hucks; Annika Faucon; David Wu; Bassel W. Abou-Khalil; Kevin Haas; Randip S. Taneja; Ingo Helbig; Costin Leu; Dennis Lal

  Nature Communications Springer Science and Business Media LLC 14 (1) 2023/07
• Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population

  Linnaeus Bundalian; Yin-Yuan Su; Siwei Chen; Akhil Velluva; Anna Sophia Kirstein; Antje Garten; Saskia Biskup; Florian Battke; Dennis Lal; Henrike O. Heyne; Konrad Platzer; Chen-Ching Lin; Johannes R. Lemke; Diana Le Duc; Epi25 collaborative

  The American Journal of Human Genetics Elsevier BV 110 (7) 1110 - 1122 0002-9297 2023/07
• Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons.

  Tetsushi Yamagata; Ikuo Ogiwara; Tetsuya Tatsukawa; Toshimitsu Suzuki; Yuka Otsuka; Nao Imaeda; Emi Mazaki; Ikuyo Inoue; Natsuko Tokonami; Yurina Hibi; Shigeyoshi Itohara; Kazuhiro Yamakawa

  eLife 12 2023/05
• A cross-disorder dosage sensitivity map of the human genome

  Ryan L. Collins; Joseph T. Glessner; Eleonora Porcu; Maarja Lepamets; Rhonda Brandon; Christopher Lauricella; Lide Han; Theodore Morley; Lisa-Marie Niestroj; Jacob Ulirsch; Selin Everett; Daniel P. Howrigan; Philip M. Boone; Jack Fu; Konrad J. Karczewski; Georgios Kellaris; Chelsea Lowther; Diane Lucente; Kiana Mohajeri; Margit Nõukas; Xander Nuttle; Kaitlin E. Samocha; Mi Trinh; Farid Ullah; Urmo Võsa; Epi25 Consortium; Estonian Biobank Research Team; Matthew E. Hurles; Swaroop Aradhya; Erica E. Davis; Hilary Finucane; James F. Gusella; Aura Janze; Nicholas Katsanis; Ludmila Matyakhina; Benjamin M. Neale; David Sanders; Stephanie Warren; Jennelle C. Hodge; Dennis Lal; Douglas M. Ruderfer; Jeanne Meck; Reedik Mägi; Tõnu Esko; Alexandre Reymond; Zoltán Kutalik; Hakon Hakonarson; Shamil Sunyaev; Harrison Brand; Michael E. Talkowski; Andres Metspalu; Reedik Mägi; Mari Nelis; Lili Milani; Tõnu Esko

  Cell Elsevier BV 185 (16) 3041 - 3055.e25 0092-8674 2022/08
• De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

  Kerith-Rae Dias; Colleen M. Carlston; Laura E.R. Blok; Lachlan De Hayr; Urwah Nawaz; Carey-Anne Evans; Pinar Bayrak-Toydemir; Stephanie Htun; Ying Zhu; Alan Ma; Sally Ann Lynch; Catherine Moorwood; Karen Stals; Sian Ellard; Matthew N. Bainbridge; Jennifer Friedman; John G. Pappas; Rachel Rabin; Catherine B. Nowak; Jessica Douglas; Theodore E. Wilson; Maria J. Guillen Sacoto; Sureni V. Mullegama; Timothy Blake Palculict; Edwin P. Kirk; Jason R. Pinner; Matthew Edwards; Francesca Montanari; Claudio Graziano; Tommaso Pippucci; Bri Dingmann; Ian Glass; Heather C. Mefford; Takeyoshi Shimoji; Toshimitsu Suzuki; Kazuhiro Yamakawa; Haley Streff; Christian P. Schaaf; Anne M. Slavotinek; Irina Voineagu; John C. Carey; Michael F. Buckley; Annette Schenck; Robert J. Harvey; Tony Roscioli

  Genetics in Medicine Elsevier BV 24 (9) 1952 - 1966 1098-3600 2022/08
• The role of common genetic variation in presumed monogenic epilepsies

  Ciarán Campbell; Costin Leu; Yen-Chen Anne Feng; Stefan Wolking; Claudia Moreau; Colin Ellis; Shiva Ganesan; Helena Martins; Karen Oliver; Isabelle Boothman; Katherine Benson; Anne Molloy; Lawrence Brody; Jacques L. Michaud; Fadi F. Hamdan; Berge A. Minassian; Holger Lerche; Ingrid E. Scheffer; Sanjay Sisodiya; Simon Girard; Patrick Cosette; Norman Delanty; Dennis Lal; Gianpiero L. Cavalleri; Epi25 Collaborative

  eBioMedicine Elsevier BV 81 104098 - 104098 2352-3964 2022/07
• CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.

  Toshimitsu Suzuki; Tetsuya Tatsukawa; Genki Sudo; Caroline Delandre; Yun Jin Pai; Hiroyuki Miyamoto; Matthieu Raveau; Atsushi Shimohata; Iori Ohmori; Shin-Ichiro Hamano; Kazuhiro Haginoya; Mitsugu Uematsu; Yukitoshi Takahashi; Masafumi Morimoto; Shinji Fujimoto; Hitoshi Osaka; Hirokazu Oguni; Makiko Osawa; Atsushi Ishii; Shinichi Hirose; Sunao Kaneko; Yushi Inoue; Adrian Walton Moore; Kazuhiro Yamakawa

  Scientific reports 12 (1) 6505 - 6505 2022/05
• Distinct gene-set burden patterns underlie common generalized and focal epilepsies

  Mahmoud Koko; Roland Krause; Thomas Sander; Dheeraj Reddy Bobbili; Michael Nothnagel; Patrick May; Holger Lerche

  EBioMedicine Elsevier BV 72 103588 - 103588 2352-3964 2021/10
• CUX2 mutations in temporal lobe epilepsy; increased kainate susceptibility and excitatory input to hippocampus in deficient mice

  Toshimitsu Suzuki; Tetsuya Tatsukawa; Genki Sudo; Caroline Delandre; Yun Jin Pai; Hiroyuki Miyamoto; Matthieu Raveau; Atsushi Shimohata; Iori Ohmori; Shin-ichiro Hamano; Kazuhiro Haginoya; Mitsugu Uematsu; Yukitoshi Takahashi; Masafumi Morimoto; Shinji Fujimoto; Hitoshi Osaka; Hirokazu Oguni; Makiko Osawa; Atsushi Ishii; Shinichi Hirose; Sunao Kaneko; Yushi Inoue; Adrian Walton Moore; Kazuhiro Yamakawa

  bioRxiv Cold Spring Harbor Laboratory 2021/09
• Soticlestat, a novel cholesterol 24‐hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice

  Nicole A. Hawkins; Manuel Jurado; Tyler T. Thaxton; Samantha E. Duarte; Levi Barse; Tetsuya Tatsukawa; Kazuhiro Yamakawa; Toshiya Nishi; Shinichi Kondo; Maki Miyamoto; Brett S. Abrahams; Matthew J. During; Jennifer A. Kearney

  Epilepsia Wiley 0013-9580 2021/09
• Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state.

  Kazuo Nakajima; Mizuho Ishiwata; Adam Z Weitemier; Hirotaka Shoji; Hiromu Monai; Hiroyuki Miyamoto; Kazuhiro Yamakawa; Tsuyoshi Miyakawa; Thomas J McHugh; Tadafumi Kato

  Human molecular genetics 30 (18) 1762 - 1772 2021/06
• Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

  Remi Stevelink; Jurjen J. Luykx; Bochao D. Lin; Costin Leu; Dennis Lal; Alexander W. Smith; Dick Schijven; Johannes A. Carpay; Koen Rademaker; Roiza A. Rodrigues Baldez; Orrin Devinsky; Kees P. J. Braun; Floor E. Jansen; Dirk J. A. Smit; Bobby P. C. Koeleman; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative(including Kazuhiro Yamakawa)

  Epilepsia Wiley 0013-9580 2021/05
• Genome‐wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24

  Toshimitsu Suzuki; Yoshinao Koike; Kyota Ashikawa; Nao Otomo; Atsushi Takahashi; Tomomi Aoi; Naoyuki Kamatani; Yusuke Nakamura; Michiaki Kubo; Yoichiro Kamatani; Yukihide Momozawa; Chikashi Terao; Kazuhiro Yamakawa

  Epilepsia Wiley 0013-9580 2021/04
• Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

  Joshua E. Motelow; Gundula Povysil; Ryan S. Dhindsa; Kate E. Stanley; Andrew S. Allen; Yen-Chen Anne Feng; Daniel P. Howrigan; Liam E. Abbott; Katherine Tashman; Felecia Cerrato; Caroline Cusick; Tarjinder Singh; Henrike Heyne; Andrea E. Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Namrata Gupta; Benjamin M. Neale; Gianpiero L. Cavalleri; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Hakon Hakonarson; Erin L. Heinzen; Ingo Helbig; Patrick Kwan; Anthony G. Marson; Slavé Petrovski; Sitharthan Kamalakaran; Sanjay M. Sisodiya; Randy Stewart; Sarah Weckhuysen; Chantal Depondt; Dennis J. Dlugos; Ingrid E. Scheffer; Pasquale Striano; Catharine Freyer; Roland Krause; Patrick May; Kevin McKenna; Brigid M. Regan; Caitlin A. Bennett; Costin Leu; Stephanie L. Leech; Terence J. O’Brien; Marian Todaro; Hannah Stamberger; Danielle M. Andrade; Quratulain Zulfiqar Ali; Tara R. Sadoway; Heinz Krestel; André Schaller; Savvas S. Papacostas; Ioanna Kousiappa; George A. Tanteles; Yiolanda Christou; Katalin Štěrbová; Markéta Vlčková; Lucie Sedláčková; Petra Laššuthová; Karl Martin Klein; Felix Rosenow; Philipp S. Reif; Susanne Knake; Bernd A. Neubauer; Friedrich Zimprich; Martha Feucht; Eva M. Reinthaler; Wolfram S. Kunz; Gábor Zsurka; Rainer Surges; Tobias Baumgartner; Randi von Wrede; Manuela Pendziwiat; Hiltrud Muhle; Annika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D. Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Müller-Schlüter; Gerhard Kluger; Martin Häusler; Ilan Blatt; Johannes R. Lemke; Ilona Krey; Yvonne G. Weber; Stefan Wolking; Felicitas Becker; Stephan Lauxmann; Christian Boßelmann; Josua Kegele; Christian Hengsbach; Sarah Rau; Bernhard J. Steinhoff; Andreas Schulze-Bonhage; Ingo Borggräfe; Christoph J. Schankin; Susanne Schubert-Bast; Herbert Schreiber; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Markus Wolff; Dieter Dennig; Rene Madeleyn; Reetta Kälviäinen; Anni Saarela; Oskari Timonen; Tarja Linnankivi; Anna-Elina Lehesjoki; Sylvain Rheims; Gaetan Lesca; Philippe Ryvlin; Louis Maillard; Luc Valton; Philippe Derambure; Fabrice Bartolomei; Edouard Hirsch; Véronique Michel; Francine Chassoux; Mark I. Rees; Seo-Kyung Chung; William O. Pickrell; Robert Powell; Mark D. Baker; Beata Fonferko-Shadrach; Charlotte Lawthom; Joseph Anderson; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R. Johnson; Pauls Auce; Graeme J. Sills; Larry W. Baum; Pak C. Sham; Stacey S. Cherny; Colin H.T. Lui; Norman Delanty; Colin P. Doherty; Arif Shukralla; Hany El-Naggar; Peter Widdess-Walsh; Nina Barišić; Laura Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Francesca Ragona; Federico Zara; Michele Iacomino; Antonella Riva; Francesca Madia; Maria Stella Vari; Vincenzo Salpietro; Marcello Scala; Maria Margherita Mancardi; Lino Nobili; Elisabetta Amadori; Thea Giacomini; Francesca Bisulli; Tommaso Pippucci; Laura Licchetta; Raffaella Minardi; Paolo Tinuper; Lorenzo Muccioli; Barbara Mostacci; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carmen Barba; Shinichi Hirose; Atsushi Ishii; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Ahmad Beydoun; Wassim Nasreddine; Nathalie Khoueiry Zgheib; Birute Tumiene; Algirdas Utkus; Lynette G. Sadleir; Chontelle King; S. Hande Caglayan; Mutluay Arslan; Zuhal Yapıcı; Pınar Topaloglu; Bulent Kara; Uluc Yis; Dilsad Turkdogan; Aslı Gundogdu-Eken; Nerses Bebek; Meng-Han Tsai; Chen-Jui Ho; Chih-Hsiang Lin; Kuang-Lin Lin; I-Jun Chou; Annapurna Poduri; Beth R. Shiedley; Catherine Shain; Jeffrey L. Noebels; Alicia Goldman; Robyn M. Busch; Lara Jehi; Imad M. Najm; Lisa Ferguson; Jean Khoury; Tracy A. Glauser; Peggy O. Clark; Russell J. Buono; Thomas N. Ferraro; Michael R. Sperling; Warren Lo; Michael Privitera; Jacqueline A. French; Steven Schachter; Ruben I. Kuzniecky; Orrin Devinsky; Manu Hegde; David A. Greenberg; Colin A. Ellis; Ethan Goldberg; Katherine L. Helbig; Mahgenn Cosico; Priya Vaidiswaran; Eryn Fitch; Samuel F. Berkovic; Holger Lerche; Daniel H. Lowenstein; David B. Goldstein

  The American Journal of Human Genetics Elsevier BV 0002-9297 2021/04
• Decrease in the T-box1 gene expression in embryonic brain and adult hippocampus of down syndrome mouse models

  Ryohei Shimizu; Keiichi Ishihara; Eri Kawashita; Haruhiko Sago; Kazuhiro Yamakawa; Ken-ichi Mizutani; Satoshi Akiba

  Biochemical and Biophysical Research Communications Elsevier {BV} 535 87 - 92 0006-291X 2021/01
• Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain

  Toshimitsu Suzuki; Ikuyo Inoue; Kazuhiro Yamakawa

  Scientific Reports Springer Science and Business Media {LLC} 10 (1) 2045-2322 2020/12
• Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

  Hidekazu Kato; Itaru Kushima; Daisuke Mori; Akira Yoshimi; Branko Aleksic; Yoshihiro Nawa; Miho Toyama; Sho Furuta; Yanjie Yu; Kanako Ishizuka; Hiroki Kimura; Yuko Arioka; Keita Tsujimura; Mako Morikawa; Takashi Okada; Toshiya Inada; Masahiro Nakatochi; Keiko Shinjo; Yutaka Kondo; Kozo Kaibuchi; Yasuko Funabiki; Ryo Kimura; Toshimitsu Suzuki; Kazuhiro Yamakawa; Masashi Ikeda; Nakao Iwata; Tsutomu Takahashi; Michio Suzuki; Yuko Okahisa; Manabu Takaki; Jun Egawa; Toshiyuki Someya; Norio Ozaki

  Translational Psychiatry Springer Science and Business Media LLC 10 (1) 2020/12
• Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility

  Yoneko Hayase; Shigeru Amano; Koichi Hashizume; Takashi Tominaga; Hiroyuki Miyamoto; Yukie Kanno; Yukiko Ueno-Inoue; Takayoshi Inoue; Mayumi Yamada; Shigehiro Ogata; Shabeesh Balan; Ken Hayashi; Yoshiki Miura; Kentaro Tokudome; Yukihiro Ohno; Takuma Nishijo; Toshihiko Momiyama; Yuchio Yanagawa; Akiko Takizawa; Tomoji Mashimo; Tadao Serikawa; Akihiro Sekine; Eiji Nakagawa; Eri Takeshita; Takeo Yoshikawa; Chikako Waga; Ken Inoue; Yu-ichi Goto; Yoichi Nabeshima; Nobuo Ihara; Kazuhiro Yamakawa; Shinichiro Taya; Mikio Hoshino

  Acta Neuropathologica Communications Springer Science and Business Media {LLC} 8 (1) 2051-5960 2020/12
• Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice

  Fumiko Arima-Yoshida; Matthieu Raveau; Atsushi Shimohata; Kenji Amano; Akihiro Fukushima; Masashi Watanave; Shizuka Kobayashi; Satoko Hattori; Masaya Usui; Haruhiko Sago; Nobuko Mataga; Tsuyoshi Miyakawa; Kazuhiro Yamakawa; Toshiya Manabe

  Scientific Reports Springer Science and Business Media LLC 10 (1) 14187 - 14187 2020/12 [Refereed]
  
• DSCAM regulates delamination of neurons in the developing midbrain

  Nariko Arimura; Mako Okada; Shinichiro Taya; Ken-ichi Dewa; Akiko Tsuzuki; Hirotomo Uetake; Satoshi Miyashita; Koichi Hashizume; Kazumi Shimaoka; Saki Egusa; Tomoki Nishioka; Yuchio Yanagawa; Kazuhiro Yamakawa; Yukiko U. Inoue; Takayoshi Inoue; Kozo Kaibuchi; Mikio Hoshino

  Science Advances American Association for the Advancement of Science (AAAS) 6 (36) eaba1693 - eaba1693 2020/09 [Refereed]
  
• Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

  Henrike O. Heyne; David Baez-Nieto; Sumaiya Iqbal; Duncan S. Palmer; Andreas Brunklaus; Patrick May; Katrine M. Johannesen; Stephan Lauxmann; Johannes R. Lemke; Rikke S. Møller; Eduardo Pérez-Palma; Ute I. Scholl; Steffen Syrbe; Holger Lerche; Dennis Lal; Arthur J. Campbell; Hao-Ran Wang; Jen Pan; Mark J. Daly

  Science Translational Medicine American Association for the Advancement of Science (AAAS) 12 (556) eaay6848 - eaay6848 1946-6234 2020/08 [Refereed]
  
• A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

  Toshimitsu Suzuki; Toshifumi Suzuki; Matthieu Raveau; Noriko Miyake; Genki Sudo; Yoshinori Tsurusaki; Takaki Watanabe; Yuki Sugaya; Tetsuya Tatsukawa; Emi Mazaki; Atsushi Shimohata; Itaru Kushima; Branko Aleksic; Tomoko Shiino; Tomoko Toyota; Yoshimi Iwayama; Kentaro Nakaoka; Iori Ohmori; Aya Sasaki; Ken Watanabe; Shinichi Hirose; Sunao Kaneko; Yushi Inoue; Takeo Yoshikawa; Norio Ozaki; Masanobu Kano; Takeyoshi Shimoji; Naomichi Matsumoto; Kazuhiro Yamakawa

  Annals of clinical and translational neurology Wiley 7 (7) 1117 - 1131 2328-9503 2020/07 [Refereed]
  
• CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice

  Tetsushi Yamagata; Matthieu Raveau; Kenta Kobayashi; Hiroyuki Miyamoto; Tetsuya Tatsukawa; Ikuo Ogiwara; Shigeyoshi Itohara; Takao K. Hensch; Kazuhiro Yamakawa

  Neurobiology of Disease Elsevier BV 141 104954 - 104954 0969-9961 2020/07 [Refereed]
  
• Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

  Lisa-Marie Niestroj; Eduardo Perez-Palma; Daniel P Howrigan; Yadi Zhou; Feixiong Cheng; Elmo Saarentaus; Peter Nürnberg; Remi Stevelink; Mark J Daly; Aarno Palotie; Dennis Lal; Yen-Chen Anne Feng; Daniel P Howrigan; Liam E Abbott; Katherine Tashman; Felecia Cerrato; Dennis Lal; Claire Churchhouse; Namrata Gupta; Benjamin M Neale; Samuel F Berkovic; Holger Lerche; David B Goldstein; Daniel H Lowenstein; Gianpiero L Cavalleri; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Hakon Hakonarson; Erin L Heinzen; Ingo Helbig; Patrick Kwan; Anthony G Marson; Slavé Petrovski; Sitharthan Kamalakaran; Sanjay M Sisodiya; Randy Stewart; Sarah Weckhuysen; Chantal Depondt; Dennis J Dlugos; Ingrid E Scheffer; Pasquale Striano; Catharine Freyer; Roland Krause; Patrick May; Kevin McKenna; Brigid M Regan; Susannah T Bellows; Costin Leu; Brigid M Regan; Caitlin A Bennett; Susannah T Bellows; Esther C Johns; Alexandra Macdonald; Hannah Shilling; Rosemary Burgess; Dorien Weckhuysen; Melanie Bahlo; Terence J O’Brien; Patrick Kwan; Slavé Petrovski; Marian Todaro; Sarah Weckhuysen; Hannah Stamberger; Peter De Jonghe; Chantal Depondt; Danielle M Andrade; Tara R Sadoway; Kelly Mo; Heinz Krestel; Sabina Gallati; Savvas S Papacostas; Ioanna Kousiappa; George A Tanteles; Katalin Šterbová; Markéta Vlcková; Lucie Sedlácková; Petra Laššuthová; Karl Martin Klein; Felix Rosenow; Philipp S Reif; Susanne Knake; Wolfram S Kunz; Gábor Zsurka; Christian E Elger; Jürgen Bauer; Michael Rademacher; Manuela Pendziwiat; Hiltrud Muhle; Annika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Müller-Schlüter; Gerhard Kluger; Martin Häusler; Ilan Blatt; Johannes R Lemke; Ilona Krey; Yvonne G Weber; Stefan Wolking; Felicitas Becker; Christian Hengsbach; Sarah Rau; Ana F Maisch; Bernhard J Steinhoff; Andreas Schulze-Bonhage; Susanne Schubert-Bast; Herbert Schreiber; Ingo Borggräfe; Christoph J Schankin; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Gerhard Kurlemann; Dieter Dennig; Rene Madeleyn; Reetta Kälviäinen; Pia Auvinen; Anni Saarela; Tarja Linnankivi; Anna-Elina Lehesjoki; Mark I Rees; Seo-Kyung Chung; William O Pickrell; Robert Powell; Sanjay M Sisodiya; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Anthony G Marson; Michael R Johnson; Pauls Auce; Graeme J Sills; Patrick Kwan; Larry W Baum; Pak C Sham; Stacey S Cherny; Colin H T Lui; Nina Barišic; Gianpiero L Cavalleri; Norman Delanty; Colin P Doherty; Arif Shukralla; Mark McCormack; Hany El-Naggar; Laura Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Pasquale Striano; Federico Zara; Michele Iacomino; Francesca Madia; Maria Stella Vari; Maria Margherita Mancardi; Vincenzo Salpietro; Francesca Bisulli; Paolo Tinuper; Laura Licchetta; Tommaso Pippucci; Carlotta Stipa; Lorenzo Muccioli; Raffaella Minardi; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carla Marini; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Birute Tumiene; Ruta Mameniskiene; Algirdas Utkus; Ruta Praninskiene; Jurgita Grikiniene; Ruta Samaitiene; Lynette G Sadleir; Chontelle King; Emily Mountier; S Hande Caglayan; Mutluay Arslan; Zuhal Yapici; Uluc Yis; Pinar Topaloglu; Bulent Kara; Dilsad Turkdogan; Asli Gundogdu-Eken; Nerses Bebek; Sibel Ugur-Iseri; Betül Baykan; Baris Salman; Garen Haryanyan; Emrah Yücesan; Yesim Kesim; Çigdem Özkara; Beth R Sheidley; Catherine Shain; Annapurna Poduri; Russell J Buono; Thomas N Ferraro; Michael R Sperling; Dennis J Dlugos; Warren Lo; Michael Privitera; Jacqueline A French; Patrick Cossette; Steven Schachter; Hakon Hakonarson; Ruben I Kuzniecky; Dennis J Dlugos; Orrin Devinsky; Ruben I Kuzniecky; Jacqueline A French; Manu Hegde; Pouya Khankhanian; Katherine L Helbig; Colin A Ellis; Gianfranco Spalletta; Fabrizio Piras; Federica Piras; Tommaso Gili; Valentina Ciullo

  Brain Oxford University Press (OUP) 0006-8950 2020/06 [Refereed]
  
• Airway Ciliary Beating Affected by the Pcp4 Dose-Dependent [Ca2+]i Increase in Down Syndrome Mice, Ts1Rhr

  Haruka Kogiso; Matthieu Raveau; Kazuhiro Yamakawa; Daichi Saito; Yukiko Ikeuchi; Tomonori Okazaki; Shinji Asano; Toshio Inui; Yoshinori Marunaka; Takashi Nakahari

  International Journal of Molecular Sciences MDPI AG 21 (6) 1947 - 1947 1422-0067 2020/03 [Refereed]
  
• Perturbation of the immune cells and prenatal neurogenesis by the triplication of the Erg gene in mouse models of Down syndrome

  Keiichi Ishihara; Ryohei Shimizu; Kazuyuki Takata; Eri Kawashita; Kenji Amano; Atsushi Shimohata; Donovan Low; Takeshi Nabe; Haruhiko Sago; Warren S. Alexander; Florent Ginhoux; Kazuhiro Yamakawa; Satoshi Akiba

  Brain Pathology Wiley 30 (1) 75 - 91 1015-6305 2020/01 [Refereed]
  
• Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity

  Tetsuya Tatsukawa; Matthieu Raveau; Ikuo Ogiwara; Satoko Hattori; Hiroyuki Miyamoto; Emi Mazaki; Shigeyoshi Itohara; Tsuyoshi Miyakawa; Mauricio Montal; Kazuhiro Yamakawa

  Molecular Autism Springer Science and Business Media LLC 10 (1) 2040-2392 2019/12 [Refereed]
  
• Impaired cortico-striatal excitatory transmission triggers epilepsy

  Hiroyuki Miyamoto; Tetsuya Tatsukawa; Atsushi Shimohata; Tetsushi Yamagata; Toshimitsu Suzuki; Kenji Amano; Emi Mazaki; Matthieu Raveau; Ikuo Ogiwara; Atsuko Oba-Asaka; Takao K. Hensch; Shigeyoshi Itohara; Kenji Sakimura; Kenta Kobayashi; Kazuto Kobayashi; Kazuhiro Yamakawa

  Nature Communications Springer Science and Business Media LLC 10 (1) 2041-1723 2019/12 [Refereed]
  
• Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

  Anaïs Begemann; Mario A. Acuña; Markus Zweier; Marie Vincent; Katharina Steindl; Ruxandra Bachmann-Gagescu; Annette Hackenberg; Lucia Abela; Barbara Plecko; Judith Kroell-Seger; Alessandra Baumer; Kazuhiro Yamakawa; Yushi Inoue; Reza Asadollahi; Heinrich Sticht; Hanns Ulrich Zeilhofer; Anita Rauch

  Molecular Medicine Springer Science and Business Media LLC 25 (1) 1076-1551 2019/12 [Refereed]
  
• Polygenic burden in focal and generalized epilepsies

  Costin Leu; Remi Stevelink; Alexander W Smith; Slavina B Goleva; Masahiro Kanai; Lisa Ferguson; Ciaran Campbell; Yoichiro Kamatani; Yukinori Okada; Sanjay M Sisodiya; Gianpiero L Cavalleri; Bobby P C Koeleman; Holger Lerche; Lara Jehi; Lea K Davis; Imad M Najm; Aarno Palotie; Mark J Daly; Robyn M Busch; Liam E Abbott; Zaid Afawi; Danielle M Andrade; Grazia Annesi; Mutluay Arslan; Pauls Auce; Pia Auvinen; Andreas van Baalen; Melanie Bahlo; Simona Balestrini; Nina Barišic; Jürgen Bauer; Larry W Baum; Betül Baykan; Nerses Bebek; Felicitas Becker; Susannah T Bellows; Caitlin A Bennett; Samuel F Berkovic; Claudia Bianchini; Francesca Bisulli; Ilan Blatt; Ingo Borggräfe; Vera Braatz; Knut Brockmann; Russell J Buono; Rosemary Burgess; Hande S Caglayan; Laura Canafoglia; Christina Canavati; Barbara Castellotti; Gianpiero L Cavalleri; Felecia Cerrato; Stacey S Cherny; Seo-Kyung Chung; Claire Churchhouse; Valentina Ciullo; Patrick Cossette; Chris Cotsapas; Norman Delanty; Dieter Dennig; Chantal Depondt; Orrin Devinsky; Tracy Dixon-Salazar; Dennis J Dlugos; Viola Doccini; Colin P Doherty; Christian E Elger; Colin A Ellis; Hany El-Naggar; Yen-Chen Anne Feng; Thomas N Ferraro; Silvana Franceschetti; Jacqueline A French; Catharine Freyer; Monica Gagliardi; Sabina Gallati; Antonio Gambardella; Tommaso Gili; David B Goldstein; Tiziana Granata; Jurgita Grikiniene; Renzo Guerrini; Asli Gundogdu-Eken; Namrata Gupta; Hakon Hakonarson; Garen Haryanyan; Martin Häusler; Manu Hegde; Erin L Heinzen; Katherine L Helbig; Ingo Helbig; Christian Hengsbach; Daniel P Howrigan; Michele Iacomino; Yushi Inoue; Esther M C Johns; Michael R Johnson; Peter De Jonghe; Reetta Kälviäinen; Sitharthan Kamalakaran; Moien Kanaan; Bulent Kara; Yesim Kesim; Pouya Khankhanian; Chontelle King; Karl M Klein; Gerhard Kluger; Susanne Knake; Amos D Korczyn; Rudolf Korinthenberg; Ioanna Kousiappa; Roland Krause; Heinz Krestel; Ilona Krey; Wolfram S Kunz; Gerhard Kurlemann; Ruben I Kuzniecky; Patrick Kwan; Angelo Labate; Dennis Lal; Petra Laššuthová; Anna-Elina Lehesjoki; Johannes R Lemke; Holger Lerche; Costin Leu; Laura Licchetta; Tarja Linnankivi; Warren Lo; Daniel H Lowenstein; Colin H T Lui; Alexandra Macdonald; Rene Madeleyn; Francesca Madia; Ana F Maisch; Ruta Mameniskiene; Maria M Mancardi; Lorella Manna; Carla Marini; Anthony G Marson; Patrick May; Thomas Mayer; Mark McCormack; Kevin McKenna; Davide Mei; Raffaella Minardi; Kelly Mo; Martino Montomoli; Emily Mountier; Lorenzo Muccioli; Hiltrud Muhle; Karen Müller-Schlüter; Benjamin M Neale; Terence J O'Brien; Çigdem Özkara; Savvas S Papacostas; Elena Parrini; Manuela Pendziwiat; Slavé Petrovski; William O Pickrell; Tommaso Pippucci; Fabrizio Piras; Federica Piras; Annapurna Poduri; Robert Powell; Ruta Praninskiene; Michael Privitera; Annika Rademacher; Michael Rademacher; Sarah Rau; Mark I Rees; Brigid M Regan; Philipp S Reif; Felix Rosenow; Anni Saarela; Lynette G Sadleir; Tara R Sadoway; Baris Salman; Vincenzo Salpietro; Ruta Samaitiene; Steven Schachter; Christoph J Schankin; Ingrid E Scheffer; Natascha Schneider; Herbert Schreiber; Susanne Schubert-Bast; Andreas Schulze-Bonhage; Lucie Sedlácková; Catherine Shain; Pak C Sham; Beth R Sheidley; Hannah Shilling; Arif Shukralla; Graeme J Sills; Sanjay M Sisodiya; Gianfranco Spalletta; Michael R Sperling; Sarah von Spiczak; Hannah Stamberger; Bernhard J Steinhoff; Ulrich Stephani; Katalin Šterbová; Randy Stewart; Carlotta Stipa; Pasquale Striano; Toshimitsu Suzuki; George A Tanteles; Katherine Tashman; Paolo Tinuper; Marian Todaro; Pinar Topaloglu; Birute Tumiene; Dilsad Turkdogan; Sibel Ugur-Iseri; Algirdas Utkus; Maria Stella Vari; Annalisa Vetro; Markéta Vlcková; Yvonne G Weber; Dorien Weckhuysen; Sarah Weckhuysen; Stefan Wolking; Kazuhiro Yamakawa; Zuhal Yapici; Uluc Yis; Emrah Yücesan; Sara Zagaglia; Federico Zara; Gábor Zsurka; Dennis Lal

  Brain Oxford University Press (OUP) 142 (11) 3473 - 3481 0006-8950 2019/11 [Refereed]
  
• Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

  Yen-Chen Anne Feng; Daniel P. Howrigan; Liam E. Abbott; Katherine Tashman; Felecia Cerrato; Tarjinder Singh; Henrike Heyne; Andrea Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Erin L. Heinzen; Ryan S. Dhindsa; Kate E. Stanley; Gianpiero L. Cavalleri; Hakon Hakonarson; Ingo Helbig; Roland Krause; Patrick May; Sarah Weckhuysen; Slavé Petrovski; Sitharthan Kamalakaran; Sanjay M. Sisodiya; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Patrick Kwan; Anthony G. Marson; Randy Stewart; Chantal Depondt; Dennis J. Dlugos; Ingrid E. Scheffer; Pasquale Striano; Catharine Freyer; Kevin McKenna; Brigid M. Regan; Susannah T. Bellows; Costin Leu; Caitlin A. Bennett; Esther M.C. Johns; Alexandra Macdonald; Hannah Shilling; Rosemary Burgess; Dorien Weckhuysen; Melanie Bahlo; Terence J. O’Brien; Marian Todaro; Hannah Stamberger; Danielle M. Andrade; Tara R. Sadoway; Kelly Mo; Heinz Krestel; Sabina Gallati; Savvas S. Papacostas; Ioanna Kousiappa; George A. Tanteles; Katalin Štěrbová; Markéta Vlčková; Lucie Sedláčková; Petra Laššuthová; Karl Martin Klein; Felix Rosenow; Philipp S. Reif; Susanne Knake; Wolfram S. Kunz; Gábor Zsurka; Christian E. Elger; Jürgen Bauer; Michael Rademacher; Manuela Pendziwiat; Hiltrud Muhle; Annika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D. Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Müller-Schlüter; Gerhard Kluger; Martin Häusler; Ilan Blatt; Johannes R. Lemke; Ilona Krey; Yvonne G. Weber; Stefan Wolking; Felicitas Becker; Christian Hengsbach; Sarah Rau; Ana F. Maisch; Bernhard J. Steinhoff; Andreas Schulze-Bonhage; Susanne Schubert-Bast; Herbert Schreiber; Ingo Borggräfe; Christoph J. Schankin; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Gerhard Kurlemann; Dieter Dennig; Rene Madeleyn; Reetta Kälviäinen; Pia Auvinen; Anni Saarela; Tarja Linnankivi; Anna-Elina Lehesjoki; Mark I. Rees; Seo-Kyung Chung; William O. Pickrell; Robert Powell; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R. Johnson; Pauls Auce; Graeme J. Sills; Larry W. Baum; Pak C. Sham; Stacey S. Cherny; Colin H.T. Lui; Nina Barišić; Norman Delanty; Colin P. Doherty; Arif Shukralla; Mark McCormack; Hany El-Naggar; Laura Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Federico Zara; Michele Iacomino; Francesca Madia; Maria Stella Vari; Maria Margherita Mancardi; Vincenzo Salpietro; Francesca Bisulli; Paolo Tinuper; Laura Licchetta; Tommaso Pippucci; Carlotta Stipa; Raffaella Minardi; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carla Marini; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Birute Tumiene; Lynette G. Sadleir; Chontelle King; Emily Mountier; S. Hande Caglayan; Mutluay Arslan; Zuhal Yapıcı; Uluc Yis; Pınar Topaloglu; Bulent Kara; Dilsad Turkdogan; Aslı Gundogdu-Eken; Nerses Bebek; Sibel Uğur-İşeri; Betül Baykan; Barış Salman; Garen Haryanyan; Emrah Yücesan; Yeşim Kesim; Çiğdem Özkara; Annapurna Poduri; Beth R. Shiedley; Catherine Shain; Russell J. Buono; Thomas N. Ferraro; Michael R. Sperling; Warren Lo; Michael Privitera; Jacqueline A. French; Steven Schachter; Ruben I. Kuzniecky; Orrin Devinsky; Manu Hegde; Pouya Khankhanian; Katherine L. Helbig; Colin A. Ellis; Gianfranco Spalletta; Fabrizio Piras; Federica Piras; Tommaso Gili; Valentina Ciullo; Andreas Reif; Andrew McQuillin; Nick Bass; Andrew McIntosh; Douglas Blackwood; Mandy Johnstone; Aarno Palotie; Michele T. Pato; Carlos N. Pato; Evelyn J. Bromet; Celia Barreto Carvalho; Eric D. Achtyes; Maria Helena Azevedo; Roman Kotov; Douglas S. Lehrer; Dolores Malaspina; Stephen R. Marder; Helena Medeiros; Christopher P. Morley; Diana O. Perkins; Janet L. Sobell; Peter F. Buckley; Fabio Macciardi; Mark H. Rapaport; James A. Knowles; Ayman H. Fanous; Steven A. McCarroll; Namrata Gupta; Stacey B. Gabriel; Mark J. Daly; Eric S. Lander; Daniel H. Lowenstein; David B. Goldstein; Holger Lerche; Samuel F. Berkovic; Benjamin M. Neale

  The American Journal of Human Genetics Elsevier BV 105 (2) 267 - 282 0002-9297 2019/08 [Refereed]
  
• Copper accumulation in the brain causes the elevation of oxidative stress and less anxious behavior in Ts1Cje mice, a model of Down syndrome

  Keiichi Ishihara; Eri Kawashita; Ryohei Shimizu; Kazuki Nagasawa; Hiroyuki Yasui; Haruhiko Sago; Kazuhiro Yamakawa; Satoshi Akiba

  Free Radical Biology and Medicine Elsevier BV 134 248 - 259 0891-5849 2019/04 [Refereed]
  
• De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

  Kohei Hamanaka; Yuji Sugawara; Takeyoshi Shimoji; Tone Irene Nordtveit; Mitsuhiro Kato; Mitsuko Nakashima; Hirotomo Saitsu; Toshimitsu Suzuki; Kazuhiro Yamakawa; Ingvild Aukrust; Gunnar Houge; Satomi Mitsuhashi; Atsushi Takata; Kazuhiro Iwama; Ahmed Alkanaq; Atsushi Fujita; Eri Imagawa; Takeshi Mizuguchi; Noriko Miyake; Satoko Miyatake; Naomichi Matsumoto

  European Journal of Human Genetics Springer Science and Business Media LLC 27 (3) 378 - 383 1018-4813 2019/03 [Refereed]
  
• Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome

  Stefanie Ritter-Makinson; Alexandra Clemente-Perez; Bryan Higashikubo; Frances S. Cho; Stephanie S. Holden; Eric Bennett; Ana Chkhaidze; Oscar H.J. Eelkman Rooda; Marie-Coralie Cornet; Freek E. Hoebeek; Kazuhiro Yamakawa; Maria Roberta Cilio; Bruno Delord; Jeanne T. Paz

  Cell Reports Elsevier BV 26 (4) 1071 - 1071 2211-1247 2019/01 [Refereed]
  
• Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice

  Ikuo Ogiwara; Hiroyuki Miyamoto; Tetsuya Tatsukawa; Tetsushi Yamagata; Tojo Nakayama; Nafiseh Atapour; Eriko Miura; Emi Mazaki; Sara J. Ernst; Dezhi Cao; Hideyuki Ohtani; Shigeyoshi Itohara; Yuchio Yanagawa; Mauricio Montal; Michisuke Yuzaki; Yushi Inoue; Takao K. Hensch; Jeffrey L. Noebels; Kazuhiro Yamakawa

  Communications Biology Springer Science and Business Media LLC 1 (1) 2399-3642 2018/12 [Refereed]
  
• [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome

  Kazuhiro Haginoya; Noriko Togashi; Tomohiro Kaneta; Naomi Hino-Fukuyo; Mamiko Ishitobi; Yosuke Kakisaka; Mitsugu Uematsu; Takehiko Inui; Yukimune Okubo; Ryo Sato; Takuya Miyabayashi; Akira Arai; Ikuo Ogiwara; Emi Mazaki; Kazuhiro Yamakawa; Kazuhie Iinuma; Shigeo Kure

  Epilepsy Research Elsevier BV 147 9 - 14 0920-1211 2018/11 [Refereed]
  
• Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

  Itaru Kushima; Branko Aleksic; Masahiro Nakatochi; Teppei Shimamura; Takashi Okada; Yota Uno; Mako Morikawa; Kanako Ishizuka; Tomoko Shiino; Hiroki Kimura; Yuko Arioka; Akira Yoshimi; Yuto Takasaki; Yanjie Yu; Yukako Nakamura; Maeri Yamamoto; Tetsuya Iidaka; Shuji Iritani; Toshiya Inada; Nanayo Ogawa; Emiko Shishido; Youta Torii; Naoko Kawano; Yutaka Omura; Toru Yoshikawa; Tokio Uchiyama; Toshimichi Yamamoto; Masashi Ikeda; Ryota Hashimoto; Hidenaga Yamamori; Yuka Yasuda; Toshiyuki Someya; Yuichiro Watanabe; Jun Egawa; Ayako Nunokawa; Masanari Itokawa; Makoto Arai; Mitsuhiro Miyashita; Akiko Kobori; Michio Suzuki; Tsutomu Takahashi; Masahide Usami; Masaki Kodaira; Kyota Watanabe; Tsukasa Sasaki; Hitoshi Kuwabara; Mamoru Tochigi; Fumichika Nishimura; Hidenori Yamasue; Yosuke Eriguchi; Seico Benner; Masaki Kojima; Walid Yassin; Toshio Munesue; Shigeru Yokoyama; Ryo Kimura; Yasuko Funabiki; Hirotaka Kosaka; Makoto Ishitobi; Tetsuro Ohmori; Shusuke Numata; Takeo Yoshikawa; Tomoko Toyota; Kazuhiro Yamakawa; Toshimitsu Suzuki; Yushi Inoue; Kentaro Nakaoka; Yu-ichi Goto; Masumi Inagaki; Naoki Hashimoto; Ichiro Kusumi; Shuraku Son; Toshiya Murai; Tempei Ikegame; Naohiro Okada; Kiyoto Kasai; Shohko Kunimoto; Daisuke Mori; Nakao Iwata; Norio Ozaki

  Cell Reports Elsevier BV 24 (11) 2838 - 2856 2211-1247 2018/09 [Refereed]
  
• Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

  Steven J. Middleton; Emily M. Kneller; Shuo Chen; Ikuo Ogiwara; Mauricio Montal; Kazuhiro Yamakawa; Thomas J. McHugh

  Nature Neuroscience Nature Publishing Group 21 (7) 1 - 8 1546-1726 2018/06 [Refereed]
  
• Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

  Tetsuya Tatsukawa; Ikuo Ogiwara; Emi Mazaki; Atsushi Shimohata; Kazuhiro Yamakawa

  Neurobiology of Disease Academic Press Inc. 112 24 - 34 1095-953X 2018/04 [Refereed]
  
• Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

  Julia N Bailey; Laurence de Nijs; Dongsheng Bai; Toshimitsu Suzuki; Hiroyuki Miyamoto; Miyabi Tanaka; Christopher Patterson; Yu-Chen Lin; Marco T Medina; María E Alonso; José M Serratosa; Reyna M Durón; Viet H Nguyen; Jenny E Wight; Iris E Martínez-Juárez; Adriana Ochoa; Aurelio Jara-Prado; Laura Guilhoto; Yolly Molina; Elsa M Yacubian; Minerva López-Ruiz; Yushi Inoue; Sunao Kaneko; Shinichi Hirose; Makiko Osawa; Hirokazu Oguni; Shinji Fujimoto; Thierry M Grisar; John M Stern; Kazuhiro Yamakawa; Bernard Lakaye; Antonio V Delgado-Escueta

  The New England journal of medicine 378 (11) 1018 - 1028 0028-4793 2018/03 [Refereed]
  
• DNAマイクロアレイ解析を用いたダウン症モデルマウスにおける脳発達遅滞の関連遺伝子の探索

  清水 涼平; 杉本 早希; 都志見 文子; 脇木 咲紀; 河下 映里; 下畑 充志; Alexander Warren; 左合 治彦; 山川 和弘; 秋葉 聡; 石原 慶一

  日本薬学会年会要旨集 (公社)日本薬学会 138年会 (3) 69 - 69 0918-9823 2018/03
• Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

  Matthieu Raveau; Denis Polygalov; Roman Boehringer; Kenji Amano; Kazuhiro Yamakawa; Thomas J. McHugh

  eLife eLife Sciences Publications Ltd 7 2050-084X 2018/02 [Refereed]
  
• DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures.

  Matthieu Raveau; Atsushi Shimohata; Kenji Amano; Hiroyuki Miyamoto; Kazuhiro Yamakawa

  Neurobiology of disease 110 180 - 191 0969-9961 2018/02 [Refereed]
  
• EFHC1 variants in juvenile myoclonic epilepsy: Reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

  Bailey, J.N.; Patterson, C.; De Nijs, L.; Durón, R.M.; Nguyen, V.-H.; Tanaka, M.; Medina, M.T.; Jara-Prado, A.; Martínez-Juárez, I.E.; Ochoa, A.; Molina, Y.; Suzuki, T.; Wight, J.E.; Lin, Y.-C.; Guilhoto, L.; Targas Yacubian, E.M.; MacHado-Salas, J.; Daga, A.; Yamakawa, K.; Grisar, T.M.; Lakaye, B.; Delgado-Escueta, A.V.

  Genetics in Medicine NATURE PUBLISHING GROUP 19 (2) 144 - 156 1098-3600 2017 [Refereed]
  
• The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex

  Nozari, M.; Suzuki, T.; Rosa, M.G.P.; Yamakawa, K.; Atapour, N.

  Developmental Psychobiology WILEY 59 (1) 39 - 47 0012-1630 2017 [Refereed]
  
• Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction

  Raveau, M.; Nakahari, T.; Asada, S.; Ishihara, K.; Amano, K.; Shimohata, A.; Sago, H.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 26 (5) 923 - 931 0964-6906 2017 [Refereed]
  
• Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism

  Shimohata, A.; Ishihara, K.; Hattori, S.; Miyamoto, H.; Morishita, H.; Ornthanalai, G.; Raveau, M.; Ebrahim, A.S.; Amano, K.; Yamada, K.; Sago, H.; Akiba, S.; Mataga, N.; Murphy, N.P.; Miyakawa, T.; Yamakawa, K.

  Experimental Neurology ACADEMIC PRESS INC ELSEVIER SCIENCE 293 1 - 12 0014-4886 2017 [Refereed]
  
• Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2

  Yamagata, T.; Ogiwara, I.; Mazaki, E.; Yanagawa, Y.; Yamakawa, K.

  Biochemical and Biophysical Research Communications ACADEMIC PRESS INC ELSEVIER SCIENCE 491 (4) 1070 - 1076 0006-291X 2017 [Refereed]
  
• Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

  Miyamoto, H.; Shimohata, A.; Abe, M.; Abe, T.; Mazaki, E.; Amano, K.; Suzuki, T.; Tatsukawa, T.; Itohara, S.; Sakimura, K.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 26 (24) 4961 - 4974 0964-6906 2017 [Refereed]
  
• Mutations of Voltage-Gated Sodium Channel Genes SCN1A and SCN2A in Epilepsy, Intellectual Disability, and Autism

  Kazuhiro Yamakawa

  Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Elsevier Inc. 233 - 251 2016/05 [Refereed]
  
• Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes

  Cornford, E.M.; Hyman, S.; Cornford, M.E.; Chytrova, G.; Rhee, J.; Suzuki, T.; Yamagata, T.; Yamakawa, K.; Penichet, M.L.; Pardridge, W.M.

  Journal of Drug Targeting TAYLOR & FRANCIS LTD 24 (1) 58 - 67 1061-186X 2016 [Refereed]
  
• Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome

  Maeda, H.; Chiyonobu, T.; Yoshida, M.; Yamashita, S.; Zuiki, M.; Kidowaki, S.; Isoda, K.; Yamakawa, K.; Morimoto, M.; Nakahata, T.; Saito, M.K.; Hosoi, H.

  Journal of Human Genetics NATURE PUBLISHING GROUP 61 (6) 565 - 569 1434-5161 2016 [Refereed]
  
• 10：遺伝子改変てんかんモデル動物

  山川 和弘

  てんかん研究 一般社団法人 日本てんかん学会 34 (1) 45 - 50 0912-0890 2016
• パルブアルブミン陽性細胞特異的Scn 1a遺伝子破壊マウスに認められた社会的行動異常と空間記憶学習障害

  荻原 郁夫; 眞崎 恵美; 山川 和弘

  てんかん研究 (一社)日本てんかん学会 33 (2) 548 - 548 0912-0890 2015/09
• Effect of CYP2C19 polymorphisnis on stiripentol administration in Japanese cases of Dravet syndrome

  Takeshi Kouga; Hiroko Shimbo; Mizue Iai; Sumimasa Yamashita; Atsushi Ishii; Yukiko Ihara; Shinichi Hirose; Kazuhiro Yamakawa; Hitoshi Osaka

  BRAIN & DEVELOPMENT ELSEVIER SCIENCE BV 37 (2) 243 - 249 0387-7604 2015/02 [Refereed]
  
• Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome

  K. Ishihara; S. Kanai; H. Sago; K. Yamakawa; S. Akiba

  Neuroscience Elsevier Ltd 281 1 - 15 1873-7544 2014/12 [Refereed]
  
• Dravet症候群成因解明のためのScn1a遺伝子発現可視化マウスの解析

  荻原 郁夫; 眞崎 恵美; 山川 和弘

  てんかん研究 (一社)日本てんかん学会 32 (2) 487 - 487 0912-0890 2014/09
• 海馬パルブアルブミン抑制性神経細胞におけるNav1.1発現低下がけいれん発作を生じる

  荻原 郁夫; 眞崎 恵美; 山川 和弘

  脳と発達 (一社)日本小児神経学会 46 (Suppl.) S298 - S298 0029-0831 2014/05
• Long-term course of Dravet syndrome: A study from an epilepsy center in Japan

  Takayama, R.; Fujiwara, T.; Shigematsu, H.; Imai, K.; Takahashi, Y.; Yamakawa, K.; Inoue, Y.

  Epilepsia WILEY-BLACKWELL 55 (4) 528 - 538 0013-9580 2014 [Refereed]
  
• In response to terminology and prognosis of Dravet syndrome

  Rumiko Takayama; Tateki Fujiwara; Hideo Shigematsu; Katsumi Imai; Yukitoshi Takahashi; Kazuhiro Yamakawa; Yushi Inoue

  Epilepsia Blackwell Publishing Inc. 55 (6) 943 - 943 1528-1167 2014 [Refereed]
  
• Role of Elfn1 in hippocampal inhibitory neural circuits containing somatostatin-positive neurons

  Naoko Tomioka; Hiroyuki Miyamoto; Minoru Hatayama; Naoko Morimura; Yoshifumi Matsumoto; Toshimitsu Suzuki; Yoshimi Iwayama; Kazuyuki Yamada; Takeo Yoshikawa; Kazuhiro Yamakawa; Jun Aruga

  JOURNAL OF PHARMACOLOGICAL SCIENCES JAPANESE PHARMACOLOGICAL SOC 124 121P - 121P 1347-8613 2014 [Refereed]
  
• Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures

  Tomioka, N.H.; Yasuda, H.; Miyamoto, H.; Hatayama, M.; Morimura, N.; Matsumoto, Y.; Suzuki, T.; Odagawa, M.; Odaka, Y.S.; Iwayama, Y.; Won Um, J.; Ko, J.; Inoue, Y.; Kaneko, S.; Hirose, S.; Yamada, K.; Yoshikawa, T.; Yamakawa, K.; Aruga, J.

  Nature Communications NATURE PUBLISHING GROUP 5 4501  2041-1723 2014 [Refereed]
  
• Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum

  Miyazaki, H.; Oyama, F.; Inoue, R.; Aosaki, T.; Abe, T.; Kiyonari, H.; Kino, Y.; Kurosawa, M.; Shimizu, J.; Ogiwara, I.; Yamakawa, K.; Koshimizu, Y.; Fujiyama, F.; Kaneko, T.; Shimizu, H.; Nagatomo, K.; Yamada, K.; Shimogori, T.; Hattori, N.; Miura, M.; Nukina, N.

  Nature Communications NATURE PUBLISHING GROUP 5 5525  2041-1723 2014 [Refereed]
  
• Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

  Ikuo Ogiwara; Takuji Iwasato; Hiroyuki Miyamoto; Ryohei Iwata; Tetsushi Yamagata; Emi Mazaki; Yuchio Yanagawa; Nobuaki Tamamaki; Takao K Hensch; Shigeyoshi Itohara; Kazuhiro Yamakawa

  Human molecular genetics 22 (23) 4784 - 804 0964-6906 2013/12 [Refereed]
  
• Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome

  David S. Auerbach; Julie Jones; Brittany C. Clawson; James Offord; Guy M. Lenk; Ikuo Ogiwara; Kazuhiro Yamakawa; Miriam H. Meisler; Jack M. Parent; Lori L. Isom

  PLoS ONE 8 (10) e77843  1932-6203 2013/10 [Refereed]
  
• パルブアルブミン陽性細胞を標的としたScn1a遺伝子破壊はマウスにてんかん発作と運動失調を引き起こす

  荻原 郁夫; 山川 和弘

  脳と発達 (一社)日本小児神経学会 45 (Suppl.) S323 - S323 0029-0831 2013/05
• Consensus on diagnosis and management of JME: From founder's observations to current trends

  Kasteleijn- Nolst Trenité, D.G.A.; Schmitz, B.; Janz, D.; Delgado-Escueta, A.V.; Thomas, P.; Hirsch, E.; Lerche, H.; Camfield, C.; Baykan, B.; Feucht, M.; Martínez-Juárez, I.E.; Duron, R.M.; Medina, M.T.; Rubboli, G.; Jerney, J.; Hermann, B.; Yacubian, E.; Koutroumanidis, M.; Stephani, U.; Salas-Puig, J.; Reed, R.C.; Woermann, F.; Wandschneider, B.; Bureau, M.; Gambardella, A.; Koepp, M.J.; Gelisse, P.; Gurses, C.; Crespel, A.; Nguyen-Michel, V.H.; Ferlazzo, E.; Grisar, T.; Helbig, I.; Koeleman, B.P.C.; Striano, P.; Trimble, M.; Buono, R.; Cossette, P.; Represa, A.; Dravet, C.; Serafini, A.; Berglund, I.S.; Sisodiya, S.M.; Yamakawa, K.; Genton, P.

  Epilepsy and Behavior ACADEMIC PRESS INC ELSEVIER SCIENCE 28 (1) S87 - S90 1525-5050 2013 [Refereed]
  
• Using experimental models to provide insights into mechanism of genetic generalised epilepsy

  Yamakawa, K.

  Neurology Asia 18 (SUPPL. 1) 2013 [Refereed]
  
• Ion channels: Genetics and as a targets for antiepileptic drugs

  Yamakawa, K.

  Neurology Asia 18 (SUPPL. 1) 2013 [Refereed]
  
• Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

  Ito, S.; Ogiwara, I.; Yamada, K.; Miyamoto, H.; Hensch, T.K.; Osawa, M.; Yamakawa, K.

  Neurobiology of Disease ACADEMIC PRESS INC ELSEVIER SCIENCE 49 (1) 29 - 40 0969-9961 2013 [Refereed]
  
• Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody - Nonspecific?

  Yamakawa, K.; Suzuki, T.

  Epilepsy and Behavior ACADEMIC PRESS INC ELSEVIER SCIENCE 28 (1) S61 - S62 1525-5050 2013 [Refereed]
  
• 電位依存性ナトリウムチャネルα2(Scn2a)遺伝子変異マウスに認められたけいれん感受性の亢進

  荻原 郁夫; 中山 東城; 山川 和弘

  脳と発達 (一社)日本小児神経学会 44 (Suppl.) S233 - S233 0029-0831 2012/05
• Cell-type specific roles for pten in establishing a functional retinal architecture

  Robert Cantrup; Rajiv Dixit; Elena Palmesino; Stephan Bonfield; Tarek Shaker; Nobuhiko Tachibana; Dawn Zinyk; Sarah Dalesman; Kazuhiro Yamakawa; William K. Stell; Rachel O. Wong; Benjamin E. Reese; Artur Kania; Yves Sauvé; Carol Schuurmans

  PLoS ONE 7 (3) 1932-6203 2012/03 [Refereed]
  
• Different degrees of loss of function between GEFS+ and SMEI Na v1.1 missense mutants at the same residue induced by rescuable folding defects

  Sugiura, Y.; Ogiwara, I.; Hoshi, A.; Yamakawa, K.; Ugawa, Y.

  Epilepsia WILEY-BLACKWELL 53 (6) e111 - e114 0013-9580 2012 [Refereed]
  
• Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice

  Machado-Salas, J.; Avila-Costa, M.R.; Guevara, P.; Guevara, J.; Durón, R.M.; Bai, D.; Tanaka, M.; Yamakawa, K.; Delgado-Escueta, A.V.

  Experimental Neurology ACADEMIC PRESS INC ELSEVIER SCIENCE 236 (1) 131 - 140 0014-4886 2012 [Refereed]
  
• Towards the understanding of Down syndrome using mouse models

  Yamakawa, K.

  Congenital Anomalies WILEY-BLACKWELL 52 (2) 67 - 71 0914-3505 2012 [Refereed]
  
• Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

  Narita, K.; Kozuka-Hata, H.; Nonami, Y.; Ao-Kondo, H.; Suzuki, T.; Nakamura, H.; Yamakawa, K.; Oyama, M.; Inoue, T.; Takeda, S.

  Biology Open COMPANY OF BIOLOGISTS LTD 1 (8) 815 - 825 2046-6390 2012 [Refereed]
  
• Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease

  Puri, R.; Suzuki, T.; Yamakawa, K.; Ganesh, S.

  Human Molecular Genetics OXFORD UNIV PRESS 21 (1) 175 - 184 0964-6906 2012 [Refereed]
  
• The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death

  Katano, M.; Numata, T.; Aguan, K.; Hara, Y.; Kiyonaka, S.; Yamamoto, S.; Miki, T.; Sawamura, S.; Suzuki, T.; Yamakawa, K.; Mori, Y.

  Cell Calcium CHURCHILL LIVINGSTONE 51 (2) 179 - 185 0143-4160 2012 [Refereed]
  
• Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome

  Cao, D.; Ohtani, H.; Ogiwara, I.; Ohtani, S.; Takahashi, Y.; Yamakawa, K.; Inoue, Y.

  Epilepsia WILEY-BLACKWELL 53 (7) 1140 - 1145 0013-9580 2012 [Refereed]
  
• A homozygous mutation of voltage-gated sodium channel βigene SCN1B in a patient with Dravet syndrome

  Ogiwara, I.; Nakayama, T.; Yamagata, T.; Ohtani, H.; Mazaki, E.; Tsuchiya, S.; Inoue, Y.; Yamakawa, K.

  Epilepsia WILEY-BLACKWELL 53 (12) e200 - e203 0013-9580 2012 [Refereed]
  
• GEFS+とSMEIにおける変異ナトリウムチャネルの機能障害と細胞内輸送機構の検討

  杉浦 嘉泰; 荻原 郁夫; 山川 和弘; 宇川 義一

  臨床神経学 (一社)日本神経学会 51 (12) 1367 - 1367 0009-918X 2011/12
• Dravet症候群モデルマウスに認められた学習障害ならびに自閉症様行動(A model mouse for Dravet syndrome exhibits learning impairment and autistic-like behaviors)

  荻原 郁夫; 伊藤 進; 山田 一之; 山川 和弘

  てんかん研究 (一社)日本てんかん学会 29 (2) 252 - 252 0912-0890 2011/09
• SCN1A遺伝子上流領域のヘテロ欠失を認めたDravet症候群の1例

  中山 東城; 荻原 郁夫; 植松 貢; 萩野谷 和裕; 山川 和弘; 土屋 滋

  脳と発達 (一社)日本小児神経学会 43 (3) 253 - 253 0029-0831 2011/05
• Acute encephalopathy in a patient with Dravet syndrome

  M. Tsuji; E. Mazaki; I. Ogiwara; T. Wada; M. Iai; A. Okumura; S. Yamashita; K. Yamakawa; H. Osaka

  Neuropediatrics 42 (2) 78 - 81 0174-304X 2011 [Refereed]
  
• Molecular and cellular basis: Insights from experimental models of Dravet syndrome

  Yamakawa, K.

  Epilepsia WILEY-BLACKWELL 52 (SUPPL. 2) 70 - 71 0013-9580 2011 [Refereed]
  
• ダウン症マウスモデルの脳における神経伝達物質量の異常と代謝異常

  石原 慶一; Ornthanalai G. Veravej; 下畑 充志; 天野 賢治; 秋葉 聡; 左合 治彦; Murphy P. Nial; 山川 和弘

  日本薬学会年会要旨集 (公社)日本薬学会 130年会 (3) 179 - 179 0918-9823 2010/03
• Loss of pre-inspiratory neuron synchroneity in mice with DSCAM deficiency

  Amano, K.; Fujii, M.; Arata, S.; Ogawa, M.; Yamakawa, K.; Arata, A.

  Advances in Experimental Medicine and Biology Advances in Experimental Medicine and Biology 669 15 - 19 0065-2598 2010 [Refereed]
  
• Central respiratory failure in a mouse model depends on the genetic background of the host

  Arata, S.; Amano, K.; Yamakawa, K.; Arata, A.

  Advances in Experimental Medicine and Biology Advances in Experimental Medicine and Biology 669 21 - 24 0065-2598 2010 [Refereed]
  
• Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

  Takayanagi, M.; Haginoya, K.; Umehara, N.; Kitamura, T.; Numata, Y.; Wakusawa, K.; Hino-Fukuyo, N.; Mazaki, E.; Yamakawa, K.; Ohura, T.; Ohtake, M.

  Epilepsia WILEY-BLACKWELL 51 (9) 1886 - 1888 0013-9580 2010 [Refereed]
  
• Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of down syndrome

  Ishihara, K.; Amano, K.; Takaki, E.; Shimohata, A.; Sago, H.; J. Epstein, C.; Yamakawa, K.

  Cerebral Cortex OXFORD UNIV PRESS INC 20 (5) 1131 - 1143 1047-3211 2010 [Refereed]
  
• Deletions of SCN1A 5′ genomic region with promoter activity in dravet syndrome

  Nakayama, T.; Ogiwara, I.; Ito, K.; Kaneda, M.; Mazaki, E.; Osaka, H.; Ohtani, H.; Inoue, Y.; Fujiwara, T.; Uematsu, M.; Haginoya, K.; Tsuchiya, S.; Yamakawa, K.

  Human Mutation WILEY-LISS 31 (7) 820 - 829 1059-7794 2010 [Refereed]
  
• ダウン症モデルマウスの脳室拡大およびニューロン新生異常

  石原 慶一; 天野 賢治; 高木 栄一; 下畑 充志; 左合 治彦; 山川 和弘

  日本生化学会大会プログラム・講演要旨集 (公社)日本生化学会 82回 4T9a - 2 2009/09
• ダウン症モデルマウス(Ts1Cje)におけるダウン症責任候補遺伝子Cbr1(Carbonyl reductase 1)の検討

  下畑 充志; 山川 和弘

  脳と発達 (一社)日本小児神経学会 41 (Suppl.) S408 - S408 0029-0831 2009/05
• DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy

  Bai, D.; Bailey, J.N.; Durón, R.M.; Alonso, M.E.; Medina, M.T.; Martínez-Juárez, I.E.; Suzuki, T.; MacHado-Salas, J.; Ramos-Ramírez, R.; Tanaka, M.; Ortega, R.H.C.; López-Ruiz, M.; Rasmussen, A.; Ochoa, A.; Jara-Prado, A.; Yamakawa, K.; Delgado-Escueta, A.V.

  Epilepsia WILEY-BLACKWELL PUBLISHING, INC 50 (5) 1184 - 1190 0013-9580 2009 [Refereed]
  
• Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: A case report

  Hino-Fukuyo, N.; Haginoya, K.; Togashi, N.; Uematsu, M.; Kitamura, T.; Kakisaka, Y.; Ishitobi, M.; Wakusawa, K.; Iinuma, K.; Oguni, H.; Yamakawa, K.; Tsuchiya, S.

  Journal of Child Neurology SAGE PUBLICATIONS INC 24 (2) 228 - 230 0883-0738 2009 [Refereed]
  
• Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for lafora disease

  Puri, R.; Suzuki, T.; Yamakawa, K.; Ganesh, S.

  Journal of Biological Chemistry AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC 284 (34) 22657 - 22663 0021-9258 2009 [Refereed]
  
• De novo mutations of voltage-gated sodium channel αiI gene SCN2A in intractable epilepsies

  I. Ogiwara; K. Ito; Y. Sawaishi; H. Osaka; E. Mazaki; I. Inoue; M. Montal; T. Hashikawa; T. Shike; T. Fujiwara; Y. Inoue; M. Kaneda; K. Yamakawa

  Neurology Lippincott Williams and Wilkins 73 (13) 1046 - 1053 1526-632X 2009 [Refereed]
  
• Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

  Suzuki, T.; Miyamoto, H.; Nakahari, T.; Inoue, I.; Suemoto, T.; Jiang, B.; Hirota, Y.; Itohara, S.; Saido, T.C.; Tsumoto, T.; Sawamoto, K.; Hensch, T.K.; Delgado-Escueta, A.V.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 18 (6) 1099 - 1109 0964-6906 2009 [Refereed]
  
• Molecular basis of severe myoclonic epilepsy in infancy

  Yamakawa, K.

  Brain and Development ELSEVIER SCIENCE BV 31 (5) 401 - 404 0387-7604 2009 [Refereed]
  
• DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death

  Amano, K.; Fujii, M.; Arata, S.; Tojima, T.; Ogawa, M.; Morita, N.; Shimohata, A.; Furuichi, T.; Itohara, S.; Kamiguchi, H.; Korenberg, J.R.; Arata, A.; Yamakawa, K.

  Journal of Neuroscience SOC NEUROSCIENCE 29 (9) 2984 - 2996 0270-6474 2009 [Refereed]
  
• Increased lipid peroxidation in Down's syndrome mouse models

  Ishihara, K.; Amano, K.; Takaki, E.; Ebrahim, A.S.; Shimohata, A.; Shibazaki, N.; Inoue, I.; Takaki, M.; Ueda, Y.; Sago, H.; Epstein, C.J.; Yamakawa, K.

  Journal of Neurochemistry WILEY-BLACKWELL 110 (6) 1965 - 1976 0022-3042 2009 [Refereed]
  
• Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features

  Sahoko Miyama; Tomohide Goto; Yushi Inoue; Kazuhiro Yamakawa

  PEDIATRIC NEUROLOGY ELSEVIER SCIENCE INC 39 (2) 120 - 122 0887-8994 2008/08 [Refereed]
  
• ダウン症モデルマウス(Ts1Cje)に見られた行動抑制障害

  下畑 充志; 山川 和弘

  脳と発達 (一社)日本小児神経学会 40 (Suppl.) S407 - S407 0029-0831 2008/05
• Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

  M. T. Medina; T. Suzuki; M. E. Alonso; R. M. Duron; I. E. Martinez-Juarez; J. N. Bailey; D. Bai; Y. Inoue; I. Yoshimura; S. Kaneko; M. C. Montoya; A. Ochoa; A. Jara Prado; M. Tanaka; J. Machado-Salas; S. Fujimoto; M. Ito; S. Hamano; K. Sugita; Y. Ueda; M. Osawa; H. Oguni; F. Rubio-Donnadieu; K. Yamakawa; A. V. Delgado-Escueta

  NEUROLOGY LIPPINCOTT WILLIAMS & WILKINS 70 (22) 2137 - 2144 0028-3878 2008/05 [Refereed]
  
• Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

  Toshimitsu Suzuki; Ikuyo Inoue; Tetsushi Yamagata; Noriyuki Morita; Teiichi Furuichi; Kazuhiro Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ACADEMIC PRESS INC ELSEVIER SCIENCE 367 (1) 226 - 233 0006-291X 2008/02 [Refereed]
  
• Association study between the Down syndrome cell adhesion molecule (DSCAM)gene and bipolar disorder

  Kenji Amano; Kazuo Yamada; Yoshimi Iwayama; Sevilla D. Detera-Wadleigh; Eiji Hattori; Tomoko Toyota; Katsushi Tokunaga; Takeo Yoshikawa; Kazuhiro Yamakawa

  PSYCHIATRIC GENETICS LIPPINCOTT WILLIAMS & WILKINS 18 (1) 1 - 10 0955-8829 2008/02 [Refereed]
  
• ダウン症モデルマウス(Ts1Cje)の行動学的異常に及ぼすエピガロカテキンガレート(EGCG)の影響

  下畑 充志; Ebrahim A. Shukkur; 山川 和弘

  脳と発達 (一社)日本小児神経学会 39 (Suppl.) S339 - S339 0029-0831 2007/06
• Naチャネル遺伝子変異とてんかんマウスモデル

  山川 和弘

  脳と発達 = OFFICIAL JOURNAL OF THE JAPANESE SOCIETY OF CHILD NEUROLOGY The Japanese Society of Child Neurology 39 (3) 171 - 173 0029-0831 2007/05
• Mutational analysis ofCACNA1Gin idiopathic generalized epilepsy

  Baljinder Singh; Arnaud Monteil; Isabelle Bidaud; Yoshihisa Sugimoto; Toshimitsu Suzuki; Shin-ichiro Hamano; Hirokazu Oguni; Makiko Osawa; Maria E. Alonso; Antonio V. Delgado-Escueta; Yushi Inoue; Norio Yasui-Furukori; Sunao Kaneko; Philippe Lory; Kazuhiro Yamakawa

  Human Mutation Wiley 28 (5) 524 - 525 1059-7794 2007/05 [Refereed]
  
• Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment

  Mittal, S.; Dubey, D.; Yamakawa, K.; Ganesh, S.

  Human Molecular Genetics OXFORD UNIV PRESS 16 (7) 753 - 762 0964-6906 2007 [Refereed]
  
• Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

  Osaka, H.; Ogiwara, I.; Mazaki, E.; Okamura, N.; Yamashita, S.; Iai, M.; Yamada, M.; Kurosawa, K.; Iwamoto, H.; Yasui-Furukori, N.; Kaneko, S.; Fujiwara, T.; Inoue, Y.; Yamakawa, K.

  Epilepsy Research ELSEVIER SCIENCE BV 75 (1) 46 - 51 0920-1211 2007 [Refereed]
  
• Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

  Ogiwara, I.; Miyamoto, H.; Morita, N.; Atapour, N.; Mazaki, E.; Inoue, I.; Takeuchi, T.; Itohara, S.; Yanagawa, Y.; Obata, K.; Furuichi, T.; Hensch, T.K.; Yamakawa, K.

  Journal of Neuroscience SOC NEUROSCIENCE 27 (22) 5903 - 5914 0270-6474 2007 [Refereed]
  
• Phenotypes and genotypes in epilepsy with febrile seizures plus

  M. Ito; K. Yamakawa; T. Sugawara; S. Hirose; G. Fukuma; S. Kaneko

  Epilepsy Research 70 (1) S199 - S205 0920-1211 2006/08 [Refereed]
  
• Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.

  Singh, S.; Sethi, I.; Francheschetti, S.; Riggio, C.; Avanzini, G.; Yamakawa, K.; Delgado-Escueta, A.V.; Ganesh, S.

  Journal of medical genetics 43 (9) e48  2006 [Refereed]
  
• Na channel gene mutations in epilepsy-the functional consequences

  Yamakawa, K.

  Epilepsy Research ELSEVIER SCIENCE BV 70 (SUPPL.1) S218 - S222 0920-1211 2006 [Refereed]
  
• Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

  Suzuki, T.; Delgado-Escueta, A.V.; Alonso, M.E.; Morita, R.; Okamura, N.; Sugimoto, Y.; Bai, D.; Medina, M.T.; Bailey, J.N.; Rasmussen, A.; Ramos-Peek, J.; Cordova, S.; Rubio-Donnadieu, F.; Ochoa, A.; Jara-Prado, A.; Inazawa, J.; Yamakawa, K.

  Neuroscience Letters ELSEVIER IRELAND LTD 405 (1-2) 126 - 131 0304-3940 2006 [Refereed]
  
• Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome

  Shukkur, E.A.; Shimohata, A.; Akagi, T.; Yu, W.; Yamaguchi, M.; Murayama, M.; Chui, D.; Takeuchi, T.; Amano, K.; Subramhanya, K.H.; Hashikawa, T.; Sago, H.; Epstein, C.J.; Takashima, A.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 15 (18) 2752 - 2762 0964-6906 2006 [Refereed]
  
• A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy

  Singh, B.; Ogiwara, I.; Kaneda, M.; Tokonami, N.; Mazaki, E.; Baba, K.; Matsuda, K.; Inoue, Y.; Yamakawa, K.

  Neurobiology of Disease ACADEMIC PRESS INC ELSEVIER SCIENCE 24 (2) 245 - 253 0969-9961 2006 [Refereed]
  
• SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

  Morimoto, M.; Mazaki, E.; Nishimura, A.; Chiyonobu, T.; Sawai, Y.; Murakami, A.; Nakamura, K.; Inoue, I.; Ogiwara, I.; Sugimoto, T.; Yamakawa, K.

  Epilepsia WILEY 47 (10) 1732 - 1736 0013-9580 2006 [Refereed]
  
• Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

  Shweta Singh; Toshimitsu Suzuki; Akira Uchiyama; Satoko Kumada; Nobuko Moriyama; Shinichi Hirose; Yukitoshi Takahashi; Hideo Sugie; Koichi Mizoguchi; Yushi Inoue; Kazue Kimura; Yukio Sawaishi; Kazuhiro Yamakawa; Subramaniam Ganesh

  Journal of Human Genetics 50 (7) 347 - 352 1434-5161 2005/08 [Refereed]
  
• Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

  S Singh; T Suzuki; A Uchiyama; S Kumada; N Moriyama; S Hirose; Y Takahashi; H Sugie; K Mizoguchi; Y Inoue; K Kimura; Y Sawaishi; K Yamakawa; S Ganesh

  JOURNAL OF HUMAN GENETICS SPRINGER TOKYO 50 (7) 347 - 352 1435-232X 2005/07 [Refereed]
  
• ダウン症モデルマウス(Ts1Cje)の解析

  下畑 充志; 山川 和弘

  脳と発達 (一社)日本小児神経学会 37 (Suppl.) S292 - S292 0029-0831 2005/05
• Development of the molecular genetics of epilepsy

  Kazuhiro Yamakawa

  Brain and Nerve 57 (3) 181 - 194 0006-8969 2005/03 [Refereed]
  
• Epilepsy and sodium channel gene mutations: Gain or loss of function?

  Yamakawa, K.

  NeuroReport LIPPINCOTT WILLIAMS & WILKINS 16 (1) 1 - 3 0959-4965 2005 [Refereed]
  
• A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures

  Kimura, K.; Sugawara, T.; Mazaki-Miyazaki, E.; Hoshino, K.; Nomura, Y.; Tateno, A.; Hachimori, K.; Yamakawa, K.; Segawa, M.

  Brain and Development ELSEVIER SCIENCE BV 27 (6) 424 - 430 0387-7604 2005 [Refereed]
  
• Identification of the gene responsible for juvenile myoclonic epilepsy.

  T Suzuki; AV Delgado-Escueta; K Aguan; J Shi; Y Hara; M Nishida; T Numata; T Takeuchi; DS Bai; Y Inoue; M Osawa; S Kaneko; H Oguni; Y Mori; K Yamakawa

  EPILEPSIA BLACKWELL PUBLISHING 46 15 - 16 0013-9580 2005
• A family of generalized epilepsy with febrile seizures plus type 2 - A new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

  Nagao, Y.; Mazaki-Miyazaki, E.; Okamura, N.; Takagi, M.; Igarashi, T.; Yamakawa, K.

  Epilepsy Research ELSEVIER SCIENCE BV 63 (2-3) 151 - 156 0920-1211 2005 [Refereed]
  
• Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins

  Ganesh, S.; Tsurutani, N.; Amano, K.; Mittal, S.; Uchikawa, C.; Delgado-Escueta, A.V.; Yamakawa, K.

  Neuroscience Letters ELSEVIER IRELAND LTD 387 (2) 62 - 67 0304-3940 2005 [Refereed]
  
• Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

  Rhodes, T.H.; Vanoye, C.G.; Ohmori, I.; Ogiwara, I.; Yamakawa, K.; George Jr., A.L.

  Journal of Physiology BLACKWELL PUBLISHING 569 (2) 433 - 445 0022-3751 2005 [Refereed]
  
• Molecular genetics of epilepsy

  Kazuhiro Yamakawa

  Clinical Neurology 44 (11) 858 - 860 0009-918X 2004/11 [Refereed]
  
• Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome

  T. Iizuka; F. Sakai; K. Yamakawa; K. Suzuki; N. Suzuki

  Cephalalgia 24 (9) 767 - 770 0333-1024 2004/09 [Refereed]
  
• ダウン症モデルマウスにおけるミトコンドリア機能異常の解析(Mitochondrial dysfunction in brain of the Down syndrome mouse model: Ts1 Cje)

  下畑 充志; Ebrahim A.S.; 山田 一之; 天野 賢治; 赤木 巧; 竹内 環; 左合 治彦; Epstein C.J.; 端川 勉; 山川 和弘

  神経化学 (一社)日本神経化学会 43 (2-3) 502 - 502 0037-3796 2004/08
• The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies

  Ganesh, S.; Tsurutani, N.; Suzuki, T.; Hoshii, Y.; Ishihara, T.; Delgado-Escueta, A.V.; Yamakawa, K.

  Biochemical and Biophysical Research Communications ACADEMIC PRESS INC ELSEVIER SCIENCE 313 (4) 1101 - 1109 0006-291X 2004 [Refereed]
  
• A Nonsense Mutation of the Sodium Channel Gene SCN2A in A Patient with Intractable Epilepsy and Mental Decline

  Kamiya, K.; Kaneda, M.; Sugawara, T.; Mazaki, E.; Okamura, N.; Montal, M.; Makita, N.; Tanaka, M.; Fukushima, K.; Fujiwara, T.; Inoue, Y.; Yamakawa, K.

  Journal of Neuroscience SOC NEUROSCIENCE 24 (11) 2690 - 2698 0270-6474 2004 [Refereed]
  
• Dosage-dependent over-expression of genes in the trisomic region of Ts1 Cje mouse model for Down syndrome

  Amano, K.; Sago, H.; Uchikawa, C.; Suzuki, T.; Kotliarova, S.E.; Nukina, N.; Epstein, C.J.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 13 (13) 1333 - 1340 0964-6906 2004 [Refereed]
  
• Mutations in EFHC1 cause juvenile myoclonic epilepsy

  Suzuki, T.; Delgado-Escueta V, A.; Aguan, K.; Alonso, M.E.; Shi, J.; Haras, Y.; Nishidas, M.; Numata, T.; Medina, M.T.; Takeuchi, T.; Morita, R.; Bai, D.; Ganesh, S.; Sugimoto, Y.; Inazawa, J.; Bailey, J.N.; Ochoa, A.; Jara-Prado, A.; Rasmussen, A.; Ramos-Peek, J.; Cordova, S.; Rubio-Donnadieu, F.; Inoue, Y.; Osawa, M.; Kaneko, S.; Oguni, H.; Mori, Y.; Yamakawa, K.

  Nature Genetics NATURE PUBLISHING GROUP 36 (8) 842 - 849 1061-4036 2004 [Refereed]
  
• Seizure phenotypes of a family with missense mutations in SCN2A

  Ito, M.; Shirasaka, Y.; Hirose, S.; Sugawara, T.; Yamakawa, K.

  Pediatric Neurology ELSEVIER SCIENCE INC 31 (2) 150 - 152 0887-8994 2004 [Refereed]
  
• ダウン症モデルマウスにおけるミトコンドリア機能異常の解析

  下畑 充志; 山川 和弘

  脳と発達 (一社)日本小児神経学会 35 (Suppl.) S310 - S310 0029-0831 2003/05
• Recent Developments in the Quest for Myoclonic Epilepsy Genes

  Delgado-Escueta, A.V.; Perez-Gosiengfiao, K.B.; Bai, D.; Bailey, J.; Medina, M.T.; Morita, R.; Suzuki, T.; Ganesh, S.; Sugimoto, T.; Yamakawa, K.; Ochoa, A.; Jara-Prado, A.; Rasmussen, A.; Ramos-Peek, J.; Cordova, S.; Rubio-Donnadieu, F.; Alonso, M.E.

  Epilepsia BLACKWELL PUBLISHING INC 44 (SUPPL. 11) 13 - 26 0013-9580 2003 [Refereed]
  
• Stimulus-induced behavior in f1 hybrids of seizure-sensitive and seizure-resistant gerbils

  Seto-Ohshima, A.; Kitajima, S.; Ito, M.; Inoue, M.; Murashima, Y.L.; Yamakawa, K.; Itohara, S.

  Zoological Science ZOOLOGICAL SOC JAPAN 20 (12) 1439 - 1445 0289-0003 2003 [Refereed]
  
• Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

  Fujiwara, T.; Sugawara, T.; Mazaki-Miyazaki, E.; Takahashi, Y.; Fukushima, K.; Watanabe, M.; Hara, K.; Morikawa, T.; Yagi, K.; Yamakawa, K.; Inoue, Y.

  Brain OXFORD UNIV PRESS 126 (3) 531 - 546 0006-8950 2003 [Refereed]
  
• Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents

  Sugawara, T.; Tsurubuchi, Y.; Fujiwara, T.; Mazaki-Miyazaki, E.; Nagata, K.; Montal, M.; Inoue, Y.; Yamakawa, K.

  Epilepsy Research ELSEVIER SCIENCE BV 54 (2-3) 201 - 207 0920-1211 2003 [Refereed]
  
• The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

  Ganesh, S.; Tsurutani, N.; Suzuki, T.; Ueda, K.; Lal Agarwala, K.; Osada, H.; Delgado-Escueta, A.V.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 12 (18) 2359 - 2368 0964-6906 2003 [Refereed]
  
• Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

  T. Sugawara; E. Mazaki-Miyazaki; K. Fukushima; J. Shimomura; T. Fujiwara; S. Hamano; Y. Inoue; K. Yamakawa

  Neurology Lippincott Williams and Wilkins 58 (7) 1122 - 1124 0028-3878 2002/04 [Refereed]
  
• Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia

  Mineko Hattori; Hiroshi Kunugi; Akihisa Akahane; Hiroshi Tanaka; Sugiko Ishida; Tetsuya Hirose; Ryoji Morita; Kazuhiro Yamakawa; Shinichiro Nanko

  American Journal of Medical Genetics - Neuropsychiatric Genetics 114 (3) 304 - 309 1552-4841 2002/04 [Refereed]
  
• Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia

  Hattori, M.; Kunugi, H.; Akahane, A.; Tanaka, H.; Ishida, S.; Hirose, T.; Morita, R.; Yamakawa, K.; Nanko, S.

  American Journal of Medical Genetics - Neuropsychiatric Genetics WILEY-LISS 114 (3) 304 - 309 0148-7299 2002 [Refereed]
  
• Genetic abnormalities underlying familial epilepsy syndromes

  Hirose, S.; Okada, M.; Yamakawa, K.; Sugawara, T.; Fukuma, G.; Ito, M.; Kaneko, S.; Mitsudome, A.

  Brain and Development ELSEVIER SCIENCE BV 24 (4) 211 - 222 0387-7604 2002 [Refereed]
  
• The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation

  Saito-Ohara, F.; Fukuda, Y.; Ito, M.; Agarwala, K.L.; Hayashi, M.; Matsuo, M.; Imoto, I.; Yamakawa, K.; Nakamura, Y.; Inazawa, J.

  American Journal of Human Genetics UNIV CHICAGO PRESS 71 (3) 637 - 645 0002-9297 2002 [Refereed]
  
• Genetics of epilepsy: Current status and perspectives

  Kaneko, S.; Okada, M.; Iwasa, H.; Yamakawa, K.; Hirose, S.

  Neuroscience Research ELSEVIER SCI IRELAND LTD 44 (1) 11 - 30 0168-0102 2002 [Refereed]
  
• Juvenile myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families

  Bai, D.; Alonso, M.E.; Medina, M.T.; Bailey, J.N.; Morita, R.; Cordova, S.; Rasmussen, A.; Ramos-Peek, J.; Ochoa, A.; Jara, A.; Donnadieu, F.R.; Cadena, G.; Yamakawa, K.; Delgado-Escueta, A.V.

  American Journal of Medical Genetics WILEY-LISS 113 (3) 268 - 274 0148-7299 2002 [Refereed]
  
• Neurinoma of tympanic plexus: A case report

  Hiroo Umeda; Akira Takagi; Shinichi Sato; Kazuhiro Yamakawa

  Journal of Otolaryngology of Japan Oto-Rhino-Laryngological Society of Japan Inc. 105 (7) 815  0030-6622 2002 [Refereed]
  
• Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A

  M. Ito; H. Nagafuji; H. Okazawa; K. Yamakawa; T. Sugawara; E. Mazaki-Miyazaki; S. Hirose; G. Fukuma; A. Mitsudome; K. Wada; S. Kaneko

  Epilepsy Research 48 (1-2) 15 - 23 0920-1211 2002 [Refereed]
  
• Alternative splicing modulates subcellular localization of laforin

  Ganesh, S.; Suzuki, T.; Yamakawa, K.

  Biochemical and Biophysical Research Communications ACADEMIC PRESS INC ELSEVIER SCIENCE 291 (5) 1134 - 1137 0006-291X 2002 [Refereed]
  
• Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

  Ganesh, S.; Delgado-Escueta, A.V.; Sakamoto, T.; Avila, M.R.; Machado-Salas, J.; Hoshii, Y.; Akagi, T.; Gomi, H.; Suzuki, T.; Amano, K.; Agarwala, K.L.; Hasegawa, Y.; Bai, D.-S.; Ishihara, T.; Hashikawa, T.; Itohara, S.; Cornford, E.M.; Niki, H.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 11 (11) 1251 - 1262 0964-6906 2002 [Refereed]
  
• Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early-onset cognitive deficit subphenotype

  Ganesh, S.; Delgado-Escueta, A.V.; Suzuki, T.; Francheschetti, S.; Riggio, C.; Avanzini, G.; Rabinowicz, A.; Bohlega, S.; Bailey, J.; Alonso, M.E.; Rasmussen, A.; Thomson, A.E.; Ochoa, A.N.; Prado, A.J.; Medina, M.T.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 11 (11) 1263 - 1271 0964-6906 2002 [Refereed]
  
• Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5

  Suzuki, T.; Morita, R.; Sugimoto, Y.; Sugawara, T.; Bai, D.-S.; Alonso, M.E.; Medina, M.T.; Bailey, J.N.; Rasmussen, A.; Ramos-Peek, J.; Cordova, S.; Rubio-Donnadieu, F.; Ochoa, A.; Jara-Prado, A.; Inazawa, J.; Delgado-Escueta, A.V.; Yamakawa, K.

  Epilepsy Research ELSEVIER SCIENCE BV 50 (3) 265 - 275 0920-1211 2002 [Refereed]
  
• R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis

  K Amano; Y Nomura; M Segawa; K Yamakawa

  BRAIN & DEVELOPMENT ELSEVIER SCIENCE BV 23 (SUPPL. 1) S152 - S156 0387-7604 2001/12 [Refereed]
  
• A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein

  T Suzuki; S Ganesh; KL Agarwala; R Morita; Y Sugimoto; J Inazawa; AV Delgado-Escueta; K Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ACADEMIC PRESS INC 288 (3) 626 - 636 0006-291X 2001/11 [Refereed]
  
• Dscam is associated with axonal and dendritic features of neuronal cells

  KL Agarwala; S Ganesh; T Suzuki; T Akagi; K Kaneko; K Amano; Y Tsutsumi; K Yamaguchi; T Hashikawa; K Yamakawa

  JOURNAL OF NEUROSCIENCE RESEARCH WILEY-LISS 66 (3) 337 - 346 0360-4012 2001/11 [Refereed]
  
• Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene

  S Ganesh; K Shoda; K Amano; A Uchiyama; S Kumada; N Moriyama; S Hirose; K Yamakawa

  MOLECULAR AND CELLULAR PROBES ACADEMIC PRESS LTD 15 (5) 281 - 289 0890-8508 2001/10 [Refereed]
  
• Erratum: A missense mutation of the na⁺channel α11subunit gene nav1.2 in a patient with fevrile and afebrile seizures causes channel dysfunction (Proceedings of the National Academy of Science of the United States of Ameri

  T. Sugawara; Y. Tsurubuchi; K. L. Agarwala; M. Ito; G. Fukuma; E. Mazaki-Miyazaki; H. Nagafuji; M. Noda; K. Imoto; K. Wada; A. Mitsudome; S. Kaneko; M. Montal; K. Nagata; S. Hirose; K. Yamakawa

  Proceedings of the National Academy of Sciences of the United States of America 98 10515  0027-8424 2001/08
• Na(upsilon)1.1 mutations cause febrile seizures associated with afebrile partial seizures

  T Sugawara; E Mazaki-Miyazaki; M Ito; H Nagafuji; G Fukuma; A Mitsudome; K Wada; S Kaneko; S Hirose; K Yamakawa

  NEUROLOGY LIPPINCOTT WILLIAMS & WILKINS 57 (4) 703 - 705 0028-3878 2001/08 [Refereed]
  
• T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients

  Y Sugimoto; R Morita; K Amano; PU Shah; Pascual-Castroviejo, I; S Khan; AV Delgado-Escueta; K Yamakawa

  EPILEPSY RESEARCH ELSEVIER SCIENCE BV 46 (2) 139 - 144 0920-1211 2001/08 [Refereed]
  
• A missense mutation of the Na+ channel alpha(11) subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction (vol 98, pg 6384, 2001)

  T Sugawara; Y Tsurubuchi; KL Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa

  PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA NATL ACAD SCIENCES 98 (18) 10515 - 10515 0027-8424 2001/08 [Refereed]
  
• Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

  KL Agarwala; S Ganesh; Y Tsutsumi; T Suzuki; K Amano; K Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ACADEMIC PRESS INC 285 (3) 760 - 772 0006-291X 2001/07 [Refereed]
  
• A missense mutation of the Na+ channel alpha(II) subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

  T Sugawara; Y Tsurubuchi; KL Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa

  PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA NATL ACAD SCIENCES 98 (11) 6384 - 6389 0027-8424 2001/05
• Regional and developmental expression of Epm2a gene and its evolutionary conservation

  S Ganesh; KL Agarwala; K Amano; T Suzuki; AV Delgado-Escueta; K Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ACADEMIC PRESS INC 283 (5) 1046 - 1053 0006-291X 2001/05 [Refereed]
  
• DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain

  KL Agarwala; S Ganesh; K Amano; T Suzuki; K Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ACADEMIC PRESS INC 281 (3) 697 - 705 0006-291X 2001/03 [Refereed]
  
• Genes and mutations in idiopathic epilepsy

  Delgado-Escueta, A.V.; Ganesh, S.; Yamakawa, K.

  American Journal of Medical Genetics - Seminars in Medical Genetics 106 (2) 139 - 145 2001 [Refereed]
  
• Childhood absence epilepsy in 8q24: Refinement of candidate region and construction of physical map

  Yoshihisa Sugimoto; Ryoji Morita; Kenji Amano; Chung-Yan G. Fong; Pravina U. Shah; Ignacio Pascual Castroviejo; Sonia Khan; Antonio V. Delgado-Escueta; Kazuhiro Yamakawa

  Genomics Academic Press Inc. 68 (3) 264 - 272 0888-7543 2000/09 [Refereed]
  
• Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion

  Kishan Lal Agarwala; Sawako Nakamura; Yukie Tsutsumi; Kazuhiro Yamakawa

  Molecular Brain Research 79 (1-2) 118 - 126 0169-328X 2000/06 [Refereed]
  
• Familial neuromyelitis optica (Devic's syndrome) with late onset in Japan

  K. Yamakawa; H. Kuroda; K. Fujihara; S. Sato; L. Nakashima; A. Takeda; K. Suzuki; Y. Itoyama

  Neurology Lippincott Williams and Wilkins 55 (2) 318 - 320 0028-3878 2000 [Refereed]
  
• Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

  Kenji Amano; Yoshiko Nomura; Masaya Segawa; Kazuhiro Yamakawa

  Journal of Human Genetics Springer Japan 45 (4) 231 - 236 1434-5161 2000 [Refereed]
  
• Assignment of the gene GRM1 coding for metabotropic glutamate receptor 1 to human chromosome band 6q24 by in situ hybridization

  S. Ganesh; K. Amano; Kazuhiro Yamakawa

  Cytogenetics and Cell Genetics 88 (3-4) 314 - 315 0301-0171 2000 [Refereed]
  
• Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

  Ganesh, S.; Lal Agarwala, K.; Ueda, K.; Akagi, T.; Shoda, K.; Usui, T.; Hashikawa, T.; Osada, H.; Delgado-Escueta, A.V.; Yamakawa, K.

  Human Molecular Genetics OXFORD UNIV PRESS 9 (15) 2251 - 2261 0964-6906 2000 [Refereed]
  
• Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24

  Ryoji Morita; Emi Miyazaki; Pravina U. Shah; Ignacio Pascual Castroviejo; Antonio V. Delgado-Escueta; Kazuhiro Yamakawa

  Epilepsy Research 37 (2) 151 - 158 0920-1211 1999/11 [Refereed]
  
• Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A

  Subramaniam Ganesh; Kenji Amano; Antonio V. Delgado-Escueta; Kazuhiro Yamakawa

  Biochemical and Biophysical Research Communications Academic Press Inc. 257 (1) 24 - 28 0006-291X 1999/04 [Refereed]
  
• Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

  Shogo Endo; Masako Suzuki; Mariko Sumi; Angus C. Nairn; Ryoji Morita; Kazuhiro Yamakawa; Paul Greengard; Masao Ito

  Proceedings of the National Academy of Sciences of the United States of America 96 (5) 2467 - 2472 0027-8424 1999/03 [Refereed]
  
• Research for the genes of epilepsy

  Kazuhiro Yamakawa

  Neurological Surgery 26 (8) 657 - 665 0301-2603 1998/08 [Refereed]
  
• JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24

  Ryoji Morita; Emi Miyazaki; Chung-Yan G. Fong; Xiao-Ning Chen; Julie R. Korenberg; Antonio V. Delgado-Escueta; Kazuhiro Yamakawa

  Biochemical and Biophysical Research Communications Academic Press Inc. 248 (2) 307 - 314 0006-291X 1998/07 [Refereed]
  
• DSCAM: A novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

  Yamakawa, K.; Huo, Y.-K.; Haendel, M.A.; Hubert, R.; Chen, X.-N.; Lyons, G.E.; Korenberg, J.R.

  Human Molecular Genetics 7 (2) 1998 [Refereed]
  
• Erratum: JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24 (Biochemical and Biophysical Research Communications (1998) 248, 2 (307-314))

  Morita, R.; Miyazaki, E.; Fong, C.-Y.G.; Chen, X.-N.; Korenberg, J.R.; Delgado-Escueta, A.V.; Yamakawa, K.

  Biochemical and Biophysical Research Communications 250 (2) 536 - 536 1998 [Refereed]
  
• Molecular characterization of human neogenin, a DCC-related protein, and the mapping of its gene (NEO1) to chromosomal position 15q22.3-q23

  Vielmetter, J.; Chen, X.-N.; Miskevich, F.; Lane, R.P.; Yamakawa, K.; Korenberg, J.R.; Dreyer, W.J.

  Genomics 41 (3) 1997 [Refereed]
  
• Walking, cloning, and mapping with YACs in 3q27: Localization of five ESTs including three members of the cystatin gene family and identification of CpG islands

  Louise A. James; Donald J. Ogilvie; Kazuhiro Yamakawa; Yusuke Nakamura; Colin J. Stirling; Rakesh Anand

  Genomics Academic Press Inc. 32 (3) 425 - 430 0888-7543 1996/03 [Refereed]
  
• Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31

  Lane, R.P.; Chen, X.-N.; Yamakawa, K.; Vielmetter, J.; Korenberg, J.R.; Dreyer, W.J.

  Genomics 35 (3) 456 - 465 1996 [Refereed]
  
• A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3

  Yamakawa, K.; Gao, D.-Q.; Korenberg, J.R.

  Cytogenetic and Genome Research 74 (1-2) 1996 [Refereed]
  
• Candidate genes for progressive myoclonus epilepsy on 21Q22.3

  Yamakawa, K.; Gao, D.Q.; Mitchell, S.; Lyons, G.; Kim, U.; Lehesjoki, A.E.; De La Chapelle, A.; Korenberg, J.R.

  Journal of Investigative Medicine 44 (1) 1996 [Refereed]
  
• Precise ordering of 26 cosmid markers on chromosome region 3p23→p21.3 by two-color FISH on human prophase chromosomes and stretched DNAs

  T. Ariyama; T. Kimura; K. Yamakawa; Y. Nakamura; T. Abe; Johji Inazawa

  Cytogenetic and Genome Research 70 (1-2) 129 - 133 1424-859X 1995 [Refereed]
  
• Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

  Yamakawa, K.; Mitchell, S.; Hubert, R.; Chen, X.-N.; Colbern, S.; Huo, Y.-K.; Gadomski, C.; Kim, U.-J.; Korenberg, J.R.

  Human Molecular Genetics 4 (4) 709 - 716 1995 [Refereed]
  
• Semiautomated DNA probe mapping using digital imaging microscopy: II. System performance

  Masaru Sakamoto; Daniel Pinkel; Laura Mascio; Damir Sudar; Donald Peters; Wen‐Lin Kuo; Kazuhiro Yamakawa; Yusuke Nakamura; Harry Drabkin; Zeljiko Jericevic; Louis Smith; Joe W. Gray

  Cytometry 19 (1) 60 - 69 1097-0320 1995 [Refereed]
  
• Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line

  Yasushi Murata; Mayuml Tamari; Takashi Takahashl; Yoshltsugu Horio; Kenji Hlbi; Shiro Yokoyama; Johjl Inazawa; Kazuhiro Yamakawa; Akimi Ogawa; Toshitada Takahashi; Yusuke Nakamura

  Human Molecular Genetics 3 (8) 1341 - 1344 0964-6906 1994/08 [Refereed]
  
• Detailed deletion mapping of the short arm of chromosome 3 in small cell and non-small cell carcinoma of the lung

  Shigeto Hosoe; Yoshihisa Shigedo; Kiyonobu Ueno; Isao Tachibana; Tadashi Osaki; Yoshiro Tanio; Ichiro Kawase; Kazuhiro Yamakawa; Yusuke Nakamura; Tadamitsu Kishimoto

  Lung Cancer 10 (5-6) 297 - 305 0169-5002 1994 [Refereed]
  
• Aberrant upregulation of a novel integrin α subunit gene at 3p21.3 in small cell lung cancer

  K. Hibi; K. Yamakawa; R. Ueda; Y. Horio; Y. Murata; M. Tamari; K. Uchida; T. Takahashi; Y. Nakamura; T. Takahashi

  Oncogene 9 (2) 611 - 619 0950-9232 1994 [Refereed]
  
• Prognostic Significance of p53 Mutations and 3p Deletions in Primary Resected Non-Small Cell Lung Cancer

  Yoshitsugu Horio; Takashi Takahashi; Tetsuo Kuroishi; Kenji Hibi; Motokazu Suyama; Takao Niimi; Kaoru Shimokata; Kazuhiro Yamakawa; Yusuke Nakamura; Ryuzo Ueda; Toshitada Takahashi

  Cancer Research 53 (1) 1 - 4 1538-7445 1993 [Refereed]
  
• Frequent homozygous deletions in lung cancer cell lines detected by a DNA marker located at 3p21.3-p22

  K. Yamakawa; T. Takahashi; Y. Horio; Y. Murata; E. Takahashi -i.; K. Hibi; S. Yokoyama; R. Ueda; T. Takahashi; Y. Nakamura

  Oncogene 8 (2) 327 - 330 0950-9232 1993 [Refereed]
  
• Mapping of human chromosome 3 and its application to human diseases

  Yamakawa, K.; Nakamura, Y.; Takahashi, E.

  Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 38 (3) 1993 [Refereed]
  
• Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with waardenburg syndrome type I

  Kazuhiro Tsukamoto; Takaya Tohma; Tohru Ohta; Kazuhiro Yamakawa; Yoshimitsu Fukushima; Yusuke Nakamura; Norio Niikawa

  Human Molecular Genetics 1 (5) 315 - 317 0964-6906 1992/08 [Refereed]
  
• Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p

  Michael H. Jones; Kazuhiro Yamakawa; Yusuke Nakamura

  Human Molecular Genetics 1 (2) 131 - 133 0964-6906 1992/05 [Refereed]
  
• A high-resolution cytogenetic map of human chromosome 3: Localization of 291 new cosmid markers by direct R-banding fluorescence in situ hybridization

  Ei-ichi Takahashi; Kazuhiro Yamakawa; Yusuke Nakamura; Tada-aki Hori

  Genomics 13 (4) 1047 - 1055 1089-8646 1992 [Refereed]
  
• Detailed mapping around the breakpoint of (3;8) translocation in familial renal cell carcinoma and FRA3B

  Kazuhiro Yamakawa; Ei-ichi Takahashi; Motoi Murata; Keiko Okui; Shiro Yokoyama; Yusuke Nakamura

  Genomics 14 (2) 412 - 416 1089-8646 1992 [Refereed]
  
• Positional cloning of genes responsible for hereditary tumors

  Yamakawa, K.; Nakamura, Y.

  Japanese Journal of Cancer and Chemotherapy 19 (1) 1992 [Refereed]
  
• Tumor suppressor genes associated with development of human renal cell carcinoma

  Morita, R.; Hikiji, K.; Yamakawa, K.; Nakamura, Y.

  Nippon rinsho. Japanese journal of clinical medicine 50 (12) 1992 [Refereed]
  
• Deletion Mapping on the Short Arm of Chromosome 3 in Squamous Cell Carcinoma and Adenocarcinoma of the Lung

  Shiro Yokoyama; Kazuhiro Yamakawa; Eiju Tsuchiya; Motoi Murata; Shigeru Sakiyama; Yusuke Nakamura

  Cancer Research 52 (4) 873 - 877 1538-7445 1992 [Refereed]
  
• Common Regions of Deletion on Chromosomes 5q, 6q, and 1Oq in Renal Cell Carcinoma

  Ryoji Morita; Susumu Saito; Kazuhiro Yamakawa; Yusuke Nakamura

  Cancer Research 51 (21) 5817 - 5820 1538-7445 1991/11 [Refereed]
  
• Isolation and mapping of 75 new DNA markers on human chromosome 3

  Kazuhiro Yamakawa; Ei-ichi Takahashi; Hiroko Saito; Takaaki Sato; Mitsuo Oshimura; Tada-aki Hori; Yusuke Nakamura

  Genomics 9 (3) 536 - 543 1089-8646 1991 [Refereed]
  
• A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3

  Kazuhiro Yamakawa; Ryoji Morita; Ei-ichi Takahashi; Tada-aki Hori; Mark Lathrop; Yusuke Nakamura

  Genomics 11 (3) 565 - 572 1089-8646 1991 [Refereed]
  
• A Detailed Deletion Mapping of the Short Arm of Chromosome 3 in Sporadic Renal Cell Carcinoma

  Kazuhiro Yamakawa; Yusuke Nakamura

  Cancer Research 51 (17) 4707 - 4711 1538-7445 1991 [Refereed]
  
• Allelotype of Breast Cancer: Cumulative Allele Losses Promote Tumor Progression in Primary Breast Cancer

  Takaaki Sato; Akira Tanigami; Kazuhiro Yamakawa; Yusuke Nakamura; Futoshi Akiyama; Goi Sakamoto; Fujio Kasumi

  Cancer Research 50 (22) 7184 - 7189 1538-7445 1990/11 [Refereed]
  
• Improved detection of rotavirus RNA in dot-blot hybridization assay by chromatographic extraction and acid denaturation of double-stranded RNA

  Kazuhiro Yamakawa; Osamu Nakagomi

  Molecular and Cellular Probes 4 (5) 415 - 418 0890-8508 1990 [Refereed]
  
• Identification of rotaviruses by dot-blot hybridization using an alkaline phosphatase-conjugated synthetic oligonucleotide probe

  Kazuhiro Yamakawa; Hjime Oyamada; Osamu Nakagomi

  Molecular and Cellular Probes 3 (4) 397 - 401 0890-8508 1989 [Refereed]
  

MISC

• てんかんの遺伝的背景・原因遺伝子・遺伝子治療

  山川和弘  BRAIN and NERVE  77-  (5)  607  -614  2025/05
• Roles of Vps26c on copper accumulation in the adult brain of a Down syndrome model mouse

  川崎真菜; 斉藤美知子; 山川和弘; 河下映里; 秋葉聡; 石原慶一  日本薬学会年会要旨集(Web)  144th-  2024
• Is brain copper accumulation involved in cognitive dysfunction of Down syndrome model mice models?

  川上陽菜; 千代華歩; 河下映里; 山川和弘; 秋葉聡; 石原慶一  日本薬学会年会要旨集(Web)  144th-  2024
• Identification of the genetic loci responsible for copper accumulation in the brain of Down syndrome model mouse using mouse models carrying deletions on the trisomic region

  巽友理奈; 斉藤美知子; 高田修治; 河下映里; 山川和弘; 秋葉聡; 石原慶一  日本薬学会年会要旨集(Web)  144th-  2024
• Correlation between brain copper accumulation and emotional memory impairment in mouse models of Down syndrome

  千代華歩; 河下映里; 秋葉聡; 山川和弘; 石原慶一  日本薬学会年会要旨集(Web)  143rd-  2023
• Narrowing down the genetic loci responsible for copper accumulation in the Down syndrome brain

  神保里菜; 高田修治; 斉藤美知子; 山川和弘; 河下映里; 左合治彦; 秋葉聡; 石原慶一  日本薬学会年会要旨集(Web)  143rd-  2023
• ダウン症関連遺伝子のアミロイドβ蓄積に及ぼす影響の検討

  石原慶一; 河下映里; 西村周秦; 斉藤美知子; 左合治彦; 山川和弘; 秋葉聡; 高田和幸  日本神経化学会大会抄録集(Web)  65th-  2022
• The copper accumulation mechanism in the brain of Down syndrome mouse model.

  八島有彌; 西原夏子; 中塚伶美; 河下映里; 左合治彦; 山川和弘; 山川和弘; 秋葉聡; 石原慶一  日本薬学会年会要旨集(CD-ROM)  140th (Web)-  28Q  -pm022S  2020
• ダウン症モデルマウス成体期表現型に転写因子Ets-related geneの3コピー化の及ぼす影響

  清水涼平; 脇木咲紀; 河下映里; ALEXANDER Warren S; 左合治彦; 山川和弘; 秋葉聡; 石原慶一  日本薬学会年会要旨集(CD-ROM)  139th-  (3)  119  -119  2019
• DNAマイクロアレイ解析を用いたダウン症モデルマウスにおける脳発達遅滞の関連遺伝子の探索

  清水涼平; 杉本早希; 都志見文子; 脇木咲紀; 河下映里; 下畑充志; ALEXANDER Warren; 左合治彦; 山川和弘; 秋葉聡; 石原慶一  日本薬学会年会要旨集(CD-ROM)  138th-  2018
• The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex (vol 59, 39, 2017)

  M. Nozari; T. Suzuki; M. G. P. Rosa; K. Yamakawa; N. Atapour  DEVELOPMENTAL PSYCHOBIOLOGY  59-  (5)  2017/07
• ダウン症モデルマウス(Ts1Cje)に見られた活動量増加と脳内モノアミン量の上昇

  下畑充志; 石原慶一; 宮本浩行; 尾見裕子; 服部聡子; 森下泰全; 俣賀宣子; 左合治彦; 宮川剛; 山川和弘  日本人類遺伝学会大会プログラム・抄録集  60th-  2015
• Inheritance of epilepsy

  山川 和弘  臨床検査  58-  (9)  1079  -1084  2014/09
• Elfn1はmGluR7をシナプス前部に集積させ,てんかんや多動症の発症に関与する

  富岡直子; 安田浩樹; 宮本浩行; 山田一之; 吉川武男; 山川和弘; 有賀純  日本分子生物学会年会プログラム・要旨集(Web)  37th-  2P-0691 (WEB ONLY)  2014
• 抑制性神経細胞のNav1.1ハプロ不全がてんかんの原因で、興奮性神経細胞のNav1.1ハプロ不全は症状を軽減する(Nav 1.1 haploinsufficiencies in excitatory and inhibitory neurons in mice exert different effects on the seizure pathology)

  荻原 郁夫; 岩里 琢治; 宮本 浩行; 岩田 亮平; 山形 哲司; 眞崎 恵美; 柳川 右千夫; 玉巻 伸章; ヘンシュ 貴雄; 糸原 重美; 山川 和弘  てんかん研究  31-  (2)  335  -335  2013/09
• 注目の遺伝子(第21回)自閉症を伴うてんかんの原因遺伝子 : SCN1AとSCN2A

  山川 和弘  分子精神医学  13-  (2)  142  -145  2013/04
• Sudden Cardiac Death in a Severe Form of Childhood Epilepsy: Mice & Men

  David S. Auerbach; Huilin Shi; Julie Jones; Brittany C. Clawson; Ikuo Ogiwara; Kazuhiro Yamakawa; Miriam H. Meisler; Jack M. Parent; Lori L. Isom  FASEB JOURNAL  27-  2013/04
• ダウン症モデルマウス(Ts1Cje)の異常におけるダウン症責任領域内遺伝子:Cbr1の評価

  下畑充志; 左合治彦; 山川和弘  日本人類遺伝学会大会プログラム・抄録集  58th-  2013
• ダウン症マウスモデルを用いた神経新生の異常,酸化ストレスの亢進,脳質拡大に関与する染色体領域の解析

  天野賢治; 浅田幸江; RAVEAU Matthieu; 下畑充志; 左合治彦; 山川和弘  日本人類遺伝学会大会プログラム・抄録集  58th-  2013
• パルブアルブミン陽性細胞特異的Scn 1a遺伝子破壊によるDravet症候群モデルマウスの確立(Selective deletion of the Scn 1 a gene encoding voltage-gated sodium channel αI in parvalbumin-positive cells in mice triggers epileptic seizures)

  Ogiwara Ikuo; 宮本 浩行; 眞崎 恵美; 玉巻 伸章; ヘンシュ 貴雄; 山川 和弘  てんかん研究  30-  (2)  341  -341  2012/09
• Dravet症候群の経過中に発症した脳症の検討(第2報) 脳症時と非脳症時の遷延発作の比較

  高山 留美子; 高橋 幸利; 那須 裕郷; 木村 暢佑; 山口 解冬; 福山 哲広; 最上 友紀子; 大谷 英之; 秋山 倫之; 池田 浩子; 今井 克美; 重松 秀夫; 廣瀬 伸一; 山川 和弘; 井上 有史  脳と発達  44-  (Suppl.)  S233  -S233  2012/05
• Dravet症候群のモデルマウスにおける発熱誘発発作に対するスティリペントールの抑制効果

  大谷 英之; 操 徳智; 荻原 郁夫; 大谷 早苗; 高橋 幸利; 山川 和弘; 井上 有史  脳と発達  44-  (Suppl.)  S281  -S281  2012/05
• 微小核細胞融合技術を用いた新しいトリソミーマウスモデルの作製

  下畑充志; 天野賢治; 香月康宏; 押村光雄; 山川和弘  日本人類遺伝学会大会プログラム・抄録集  57th-  2012
• Dravet症候群の経過中急性脳症を発症した症例についての検討(第1報-脳症発症時の臨床経過)

  高山 留美子; 高橋 幸利; 伊藤 智城; 臼井 大介; 木村 暢佑; 那須 裕郷; 福山 哲広; 最上 友紀子; 大谷 英之; 池田 浩子; 今井 克美; 重松 秀夫; 廣瀬 伸一; 山川 和弘; 井上 有史  てんかん研究  29-  (2)  326  -326  2011/09
• てんかん患者に見出された電位依存性ナトリウムチャネルβ2(SCN2B)遺伝子のミスセンス変異

  山形 哲司; 真崎 恵美; 荻原 郁夫; 井上 有史; 山川 和弘  てんかん研究  29-  (2)  377  -377  2011/09
• Dravet症候群におけるSCN1A遺伝子プロモーター領域の欠失

  中山 東城; 井上 有史; 藤原 建樹; 大谷 英之; 小坂 仁; 植松 貢; 萩野谷 和裕; 土屋 滋; 山川 和弘  脳と発達  43-  (Suppl.)  S358  -S358  2011/05
• てんかんにおける新規責任遺伝子及び変異の網羅的探索

  兼子直; 菅原貴征; 菅原貴征; 吉田秀一; 吉田秀一; 菊地隆; 岡田元宏; 山川和弘; 石津棟暎; 小島俊男; 金井数明; 廣瀬伸一  てんかん治療研究振興財団研究年報  22-  2011
• The differences of the respiratory network between C57BL/6 and BALB/c in Dscam knockout mice

  Akiko Arata; Hideki Shimomura; Kenji Amano; Satoru Arata; Kazuhiro Yamakawa; Takakuni Tanizawa  NEUROSCIENCE RESEARCH  71-  E335  -E335  2011
• Immunochistochemical distribution of voltage gated sodium channel subunits in mouse brain

  Tetsushi Yamagata; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  71-  E316  -E316  2011
• Scn1a-GFP BAC transgenic mouse lines showed predominant Na(v)1.1 expression in parvalbumin-positive interneurons in neocortex and hippocampus

  Ikuo Ogiwara; Emi Mazaki; Shigeyoshi Itohara; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  71-  E294  -E294  2011
• Epilepsy protein myoclonin1 regulates endoplasmic reticulum calcium homeostasis

  Toshimitsu Suzuki; Kripamoy Aguan; Hideaki Mizuno; Takeshi Nakamura; Ikuyo Inoue; Katsuhiko Mikoshiba; Atsushi Miyawaki; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  71-  E295  -E295  2011
• 乳児重症ミオクロニーてんかんのマウスモデルにおけるスティリペントールの効果(Efficacy of stiripentol in a mouse model for severe myoclonic epilepsy in infancy)

  操 徳智; 大谷 英之; 荻原 郁夫; 大谷 早苗; 高橋 幸利; 山川 和弘; 井上 有史  てんかん研究  28-  (2)  279  -279  2010/09
• 難治てんかんに認められたde novo電位依存性ナトリウムチャネルα2(SCN2A)遺伝子変異

  荻原 郁夫; 眞崎 恵美; 井上 育代; 伊藤 公一; 金田 誠; 沢石 由記夫; 小坂 仁; 藤原 建樹; 井上 有史; 山川 和弘  てんかん研究  28-  (2)  342  -342  2010/09
• SMEIモデルマウスのHyperthermia-induced seizureに対するLVT、STP、CLBの抑制効果の検討

  大谷 英之; 荻原 郁夫; 高橋 幸利; 山川 和弘; 井上 有史  脳と発達  42-  (Suppl.)  S259  -S259  2010/05
• 電位依存性ナトリウムチャネルβ1(SCN1B)遺伝子にホモ接合型変異を認めたDravet症候群1症例

  荻原 郁夫; 中山 東城; 芳村 勝城; 藤原 建樹; 井上 有史; 山川 和弘  脳と発達  42-  (Suppl.)  S407  -S407  2010/05
• ダウン症マウスモデルの脳における神経伝達物質量の異常と代謝異常

  石原慶一; 石原慶一; ORNTHANALAI G. Veravej; 下畑充志; 天野賢治; 秋葉聡; 左合治彦; MURPHY P. Niall; 山川和弘  日本薬学会年会要旨集  130th-  (3)  2010
• Scn1a mice exhibit hyperactivity, autism-like behavioral deficits and learning impairments

  Ikuo Ogiwara; Susumu Ito; Kazuyuki Yamada; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  68-  E204  -E205  2010
• No visible abnormality of migrating neurons in Efhc1-deficient mouse, a model for juvenile myoclonic epilespy

  Kazuhiro Yamakawa; Toshimitsu Suzuki; Ikuyo Inoue  NEUROSCIENCE RESEARCH  68-  E420  -E420  2010
• Genes for epilepsy-updates

  山川 和弘  Japanese journal of clinical psychiatry  38-  (12)  1675  -1684  2009/12
• Dravet症候群の長期経過について

  高山 留美子; 藤原 建樹; 池上 真理子; 向田 壮一; 大谷 英之; 池田 浩子; 今井 克美; 重松 秀夫; 久保田 裕子; 高橋 幸利; 井上 有史; 山川 和弘  てんかん研究  27-  (2)  246  -246  2009/09
• 電位依存性ナトリウムチャンネルα1(SCN1A)遺伝子変異マウスについて

  大谷 英之; 荻原 郁夫; 眞崎 恵美; 高橋 幸利; 山川 和弘; 井上 有史  てんかん研究  27-  (2)  215  -215  2009/09
• 小児難治てんかんにおけるSCN1A遺伝子とその上流領域のヘテロ欠失・重複

  中山 東城; 荻原 郁夫; 眞崎 恵美; 井上 有史; 藤原 建樹; 小坂 仁; 萩野谷 和裕; 土屋 滋; 山川 和弘  てんかん研究  27-  (2)  252  -252  2009/09
• 難治性乳幼児てんかんに認められたde novo電位依存性ナトリウムチャネルα2遺伝子変異

  荻原 郁夫; 沢石 由記夫; 小坂 仁; 藤原 建樹; 井上 有史; 山川 和弘  脳と発達  41-  (Suppl.)  S240  -S240  2009/05
• Immunoliposome-based, non-viral gene delivery in a knock-out mouse model of Lafora inclusion body disease

  Eain Cornford; Shigeyo Hyman; Marcia Cornford; Toshimitsu Suzuki; Tetsushi Yamagata; Kazuhiro Yamakawa; Jennifer Rhee; Antonio Delgado-Escueta  MOLECULAR GENETICS AND METABOLISM  96-  (2)  S19  -S19  2009/02
• ダウン症モデルマウスの脳室拡大およびニューロン新生異常

  石原慶一; 石原慶一; 天野賢治; 高木栄一; 下畑充志; 左合治彦; 山川和弘  生化学  2009
• Analysis of voltage-gated sodium channel alpha 1 expression using BAC transgenic mice

  Ikuo Ogiwara; Natsuko Tokonami; Emi Mazaki; Ikuyo Inoue; Shigeyoshi Itohara; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  65-  S252  -S252  2009
• HYPERTHERMIA INDUCED EPILEPTIC SEIZURES IN MICE CARRYING A SCN1A MUTATION

  H. Ohtani; Y. Takahashi; S. Ohtani; I. Ogiwara; E. Mazaki; K. Yamakawa; T. Fujiwara; Y. Inoue  EPILEPSIA  50-  174  -174  2009
• GENETIC BACKGROUNDS AFFECT PERINATAL DEATH CAUSED BY DSCAM DEFICIENCY

  Kenji Amano; Morimitsu Fujii; Satoru Arata; Takuro Tojima; Masaharu Ogawa; Noriyuki Morita; Atsushi Shimohata; Teiichi Furuichi; Shigeyoshi Itohara; Hiroyuki Kamiguchi; Julie R. Korenberg; Akiko Arata; Kazuhiro Yamakawa  JOURNAL OF PHYSIOLOGICAL SCIENCES  59-  471  -471  2009
• P1-36 Efhc 1 mutant mice have frequent spontaneous myoclonus(The 42^ Congress of the Japan Epilepsy Society)

  Hensch Takao K.  Journal of the Japan Epilepsy Society  26-  (2)  352  -352  2008/09
• P2-10 SCN 2 A mutation in infantile spasms that evolve to severe symptomatlc generalized epilepsy(The 42^ Congress of the Japan Epilepsy Society)

  荻原 郁夫; 伊藤 公一; 真崎 恵美; 井上 育代; 金田 誠; 四家 達彦; 井上 有史; 藤原 建樹; 山川 和弘  Journal of the Japan Epilepsy Society  26-  (2)  363  -363  2008/09
• O2-35 Epileptic seizures induced by hyperthermia in mice carrying a SCN 1 A mutatlon(The 42^ Congress of the Japan Epilepsy Society)

  大谷 英之; 大谷 早苗; 高橋 幸利; 荻原 郁夫; 真崎 恵美; 山川 和弘; 井上 有史; 藤原 建樹  Journal of the Japan Epilepsy Society  26-  (2)  312  -312  2008/09
• 座談会 てんかん遺伝子研究から臨床へ

  廣瀬 源二郎; 兼子 直; 山川 和弘  Epilepsy  2-  (1)  7  -13  2008/05
• ダウン症モデルマウス(TslCje)の行動異常とダウン症責任遺伝子の1つであるCbr1との関係について

  下畑充志; 左合治彦; 山川和弘  日本人類遺伝学会大会プログラム・抄録集  53rd-  2008
• Abnormal facial nucleus activity in Dscam1-deficient mouse. A model for sudden infant death syndrome

  Kenji Amano; Morimitsu Fujii; Satoru Arata; Masaharu Ogawa; Shigeyoshi Itohara; Akiko Arata; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  61-  S164  -S164  2008
• Behavioral phenotyping of the Ts1Cje, a model for Down syndrome

  Atsushi Shimohata; Hiroko Omi; Ebrahim Abdul S; Kazuyuki Yamade; Epstein Charles J; Haruhiko Sago; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  61-  S136  -S136  2008
• Reduced seizure threshold in Efhc1 deficient mice

  Toshimitsu Suzuki; Ikuyo Inoue; Shigeyoshi Itohara; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  61-  S127  -S127  2008
• Increase of protein modification by by-products of lipid peroxidation in mouse model of Down syndrome

  Keiichi Ishihara; Noriko Shibazaki; Haruhiko Sago; Charles J. Epstein; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  61-  S130  -S130  2008
• Voltage-gated Na+ channel alpha 1 gene is transcribed from two widely separated promoters

  Ikuo Ogiwara; Koichi Ito; Emi Mazaki; Makoto Kaneda; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  61-  S82  -S82  2008
• P2-03 Increased seizure susceptibility in a mouse with Efhc1 deficiency(The 41^ Congress of the Japan Epilepsy Society)

  Delgado-Escueta Antonio V  Journal of the Japan Epilepsy Society  25-  (3)  348  -348  2007/09
• O1-04 Clinical features and EEG findings in mice bearing a heterozygous mutation in the SCN 1 A gene(The 41^ Congress of the Japan Epilepsy Society)

  大谷 英之; 田中 正樹; 高橋 幸利; 井上 有史; 藤原 建樹; 荻原 郁夫; 真崎 恵美; 山川 和弘  Journal of the Japan Epilepsy Society  25-  (3)  254  -254  2007/09
• 乳児重症ミオクロニーてんかんモデルマウスにおける大脳皮質抑制性神経細胞の異常

  荻原 郁夫; 森田 規之; アタポアナフィセ; 宮本 浩行; 井上 育代; 真崎 恵美; 柳川 右千夫; 小幡 邦彦; ヘンシュ 貴雄; 古市 貞一; 山川 和弘  てんかん研究  25-  (3)  246  -246  2007/09
• 電位依存性NaチャンネルSCN1A異常をもつ部分てんかんに関する研究

  四家 達彦; 藤原 建樹; 下村 次郎; 久保田 裕子; 高橋 幸利; 井上 有史; 山川 和弘  脳と発達  39-  (Suppl.)  S155  -S155  2007/06
• 【てんかんの分子病態への接近】 てんかんの責任遺伝子(イオンチャネルを中心に)

  荻原 郁夫; 山川 和弘  Medical Science Digest  33-  (4)  789  -792  2007/04
• ダウン症モデルマウス(Ts1Cje)に見られた活動亢進と行動抑制障害

  下畑充志; 尾見裕子; EBRAHIM A Shukkur; 山田一之; 左合治彦; 山川和弘  日本人類遺伝学会大会プログラム・抄録集  52nd-  2007
• Juvenile myoclonic epilepsy: Novel mutations in myoclonin1/EFHC1 in families, singletons and sporadics

  M. Medina; T. Suzuki; R. Duron; M. Alonso; Martinez-Juarez, I; J. Bailey; Y. Inoue; Yoshimura, I; S. Kaneko; A. Ochoa; A. Jara Prado; S. Fujimoto; M. Ito; S. Hamano; K. Sugita; Y. Ueda; M. Osawa; H. Oguni; K. Yamakawa; A. Delgado-Escueta  EPILEPSIA  48-  86  -86  2007
• EFHC1 short isoform-specific mutations in patients with epilepsy

  Toshimitsu Suzuki; Antonio V. Delgado-Escueta; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  58-  S238  -S238  2007
• Nav1.1 predominantly localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in Nav1.1-deficient mice

  I. Ogiwara; H. Miyamoto; N. Morita; N. Atapour; E. Mazaki; I. Inoue; Y. Yanagawa; K. Obata; T. Furuichi; T. K. Hensch; K. Yamakawa  NEUROSCIENCE RESEARCH  58-  S40  -S40  2007
• S1-3 若年性ミオクロニーてんかん遺伝子EFHC1(てんかんの分子遺伝学的研究,シンポジウム1,第40回 日本てんかん学会)

  山川 和弘  てんかん研究  24-  (3)  174  -174  2006/08
• P-32 Short isoform of EFHC 1 in human and monkey but not in mouse(The 40th Congress of the Japan Epilepsy Society)

  Antonio V. Delgado-Escueta  Journal of the Japan Epilepsy Society  24-  (3)  238  -238  2006/08
• O2-17 Either Nav 1.1 channel or SCN 1 A mRNA is predominantly expressed in caudal brain in immature mouse(The 40th Congress of the Japan Epilepsy Society)

  荻原 郁夫; 森田 規之; 井上 育代; 真崎 恵美; 古市 貞一; 山川 和弘  Journal of the Japan Epilepsy Society  24-  (3)  215  -215  2006/08
• 臨床経過に相違がみられた乳児重症ミオクロニーてんかんの一卵性双胎例

  三山 佐保子; 後藤 知英; 井上 有史; 山川 和弘  脳と発達  38-  (Suppl.)  S229  -S229  2006/05
• 新しい遺伝子変異を伴う熱性けいれんプラスを示す全般てんかん家系

  小坂 仁; 田上 幸治; 栗原 真紀子; 井合 瑞江; 山田 美智子; 山下 純正; 黒澤 健司; 岩本 弘子; 山川 和弘  脳と発達  38-  (3)  230  -230  2006/05
• SCN1A変異を有し経過中に部分発作が主体となった乳児重症ミオクロニーてんかん辺縁群

  四家 達彦; 高橋 幸利; 久保田 裕子; 下村 次郎; 福島 克之; 重松 秀夫; 大谷 英之; 井上 有史; 藤原 建樹; 山川 和弘  日本小児科学会雑誌  110-  (2)  175  -175  2006/02
• Homophilic binding of Dscam accelerates neurite extension

  Kenji Amano; Takuro Tojima; Masaharu Ogawa; Atsushi Shimohata; Shigeyoshi Itohara; Hiroyuki Kamiguchi; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  55-  S89  -S89  2006
• Abnormality of central respiratory network in Dscam knock-out mouse

  Morimitsu Fujii; Kenji Amano; Satoru Arata; Atsushi Shimohata; Kazuhiro Yamakawa; Akiko Arata  NEUROSCIENCE RESEARCH  55-  S89  -S89  2006
• A-type potassium channel truncation mutation in temporal lobe epilepsy

  Kazuhiro Yamakawa; Baljinder Singh; Ikuo Ogiwara; Natsuko Tokonami; Emi Mazaki; Koichi Baba; Kazumi Matsuda; Yushi Inoue; Makoto Kaneda  NEUROSCIENCE RESEARCH  55-  S136  -S136  2006
• Tau hyperphosphorylation in Ts1Cje, a partial trisomy 16 mouse model for Down syndrome

  Ebralum Abdul; A. Shimohata; W. Yu; M. Yamaguchi; M. Murayama; D. Chui; T. Akagi; T. Takeuchi; K. Amano; H. S. Karthik; T. Hashikawa; H. Sago; C. J. Epstein; A. Takaswma; K. Yamakawa  NEUROSCIENCE RESEARCH  55-  S256  -S256  2006
• Sodium channel alpha subunit type I, Nav1.1, is localized to axons in mouse brain

  Ikuo Ogwiara; Noriyuki Morita; Ikuyo Inoue; Emi Mazaki; Teiichi Furuichi; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  55-  S142  -S142  2006
• FDG-pet study of genetically confirmed patients with severe myoclonic epilepsy in infancy

  Kazuhiro Haginoya; Noriko Togashi; Taro Kitamura; Yosuke Kakisaka; Keisuke Wakusawa; Naomi Fukuyo; Mamiko Ishitobi; Kazuie Iinuma; Shigeru Tsuchiya; Kazuhiro Yamakawa  EPILEPSIA  47-  82  -83  2006
• Increased oxidative stress and mitochondrial dysfunction in Ts1Cje, a Down syndrome mouse model

  Atsushi Shimohata; A. S. Ebrahim; M. Yamaguchi; W. Yu; H. Sago; C. J. Epstein; K. Yamakawa  NEUROSCIENCE RESEARCH  55-  S256  -S256  2006
• JME: Novel mutations in myoclonin1/EFHC1

  Marco T. Medina; Toshimitsu Suzuki; Reyna M. Duron; Maria E. Alonso; Julia N. Bailey; Iris E. Martinez-Juarez; Dongsheng Bai; Yushi Inoue; Ihoko Yoshimura; Sunao Kaneko; Maria C. Montoya; Astrid Rasmussen; Adriana Ochoa; Aurelio Jara-Prado; Miyabi Tanaka; Jesus Machado-Salas; Kazuhiro Yamakawa; Antonio V. Delgado-Escueta; Tegucigalpa Honduras  ANNALS OF NEUROLOGY  60-  S90  -S90  2006
• Immunocytochemistry of the neurocytoskeleton and Lafora bodies in an epilepsy model

  Jesus Machado-Salas; Patricia Guevara; Dongsheng Bai; Reyna Duron; K. Amano; T. Suzuki; Kazuhiro Yamakawa  EPILEPSIA  47-  314  -314  2006
• SCN1Aの変異を確認した重症ミオクロニーてんかん患者のFDG-PETによる脳代謝の検討

  萩野谷和裕; 冨樫紀子; 北村太郎; 柿坂庸介; 涌澤圭介; 福與なおみ; 石飛真美子; 飯沼一宇; 土屋滋; 山川和弘  てんかん研究  24-  (3)  224  -224  2006
• てんかんとナトリウムチャネル遺伝子変異 (特集・Naチャネル)

  山川 和弘  生体の科学  56-  (3)  235  -240  2005/05
• てんかん分子遺伝学研究の進展 (特集 てんかんの基礎と臨床)

  山川 和弘  脳と神経  57-  (3)  181  -194  2005/03
• Juvenile myoclonic epilepsy: Myoclonin 1 and 2

  AV Delgado-Escueta; A Daga; T Suzuki; IE Martinez-Juarez; ME Alonso; RA Duron; DS Bai; MT Medina; JN Bailey; A Ochoa; A Jara-Prado; A Rasmussen; F Rubio-Donnadieu; K Yamakawa  NEUROLOGY  64-  (6)  A135  -A135  2005/03
• 若年性ミオクロニーてんかん(JME)責任遺伝子の同定

  鈴木 俊光; Delgado-Escueta A.V; Aguan Kripamoy; Shi Jun; 原 雄二; 西田 基宏; 沼田 朋大; 竹内 環; Bai Dongsheng; 井上 有史; 大澤 真木子; 兼子 直; 小国 弘量; 森 泰生; 山川 和弘  てんかん研究  23-  (1)  43  -44  2005/02
• A novel missense mutation of the sodium channel alpha 1-subunit (SCN1A) gene in one family with generalized epilepsy with febrile seizures plus (GEFS+).

  E Yamazaki; T Sugawara; E Mazaki; T Fujiwara; K Yagi; K Yamakawa; Y Inoue  EPILEPSIA  46-  13  -13  2005
• Juvenile myoclonic epilepsy: Antelepsini 1/EFHC1 functions

  AV Delgado-Escueta; A Daga; T Suzuki; IE Martinez-Juarez; RM Duron; ME Alonso; JN Bailey; D Bai; MT Medina; A Ochoa; AJ Prado; A Rasmussen; F Rubio-Donnadieu; K Yamakawa  EPILEPSIA  46-  256  -256  2005
• Neurocytoskeletal features in Lafora disease null mutant mice

  J Machado-Salas; P Guevara; J Guevara; Martinez, I; R Duron; D Bai; S Ganesh; K Yamakawa; T Suzuki; K Amano; E Comford; AV Delgado-Escueta  EPILEPSIA  46-  75  -75  2005
• Novel juvenile myoclonic epilepsy mutation in myoclonin 1/EFHC1 in one large family from Honduras

  MT Medina; T Suzuki; RM Duron; D Bai; JN Bailey; K Yamakawa; MC Montoya; M Tanaka; AV Delgado-Escueta  EPILEPSIA  46-  79  -79  2005
• ミオクローヌスてんかんの遺伝子 (特集 第39回脳のシンポジウム) -- (てんかんの分子生物学)

  山川 和弘  神経研究の進歩  48-  (6)  906  -915  2004/12
• 重篤な知能障害を伴う難治てんかん患者に観察された異常ナトリウムチャネルの電気生理学的解析(Biophysical Analyses of Voltage-gated Na+-Channel Gene Mutations Identified in Intractable Epilepsies with Severe Mental Decline)

  荻原 郁夫; 神谷 和作; 真崎 恵美; 岡村 奈美; 菅原 隆; Montal Mauricio; 蒔田 直昌; 藤原 建樹; 井上 有史; 金田 誠; 山川 和弘  神経化学  43-  (2-3)  511  -511  2004/08
• 若年性ミオクローヌスてんかん原因遺伝子の単離に向けて(Towards the identification of genes responsible for juvenile myoclonic epilepsy)

  鈴木 俊光; Delgado-Escueta Av; Aguan K; 原 雄二; 西田 基宏; Numata T; 竹内 環; Bai D; 井上 有史; 大沢 真木子; 兼子 直; 小国 弘量; 森 泰生; 山川 和弘  神経化学  43-  (2-3)  512  -512  2004/08
• Is Lafora disease a disorder of protein degradation and clearance?

  J Machado-Salas; DS Bai; MR Avila; S Ganesh; K Yamakawa; T Suzuki; K Amano; E Cornford; AV Delgado-Escueta  NEUROLOGY  62-  (7)  A253  -A254  2004/04
• 新しいナトリウムイオンチャンネルα1-subunit(SCN 1A)の変異を認めたGeneralized epilepsy with febrile seizures plus(GEFS+)の一家系

  山崎 悦子; 菅原 隆; 真崎 恵美; 藤原 建樹; 八木 和一; 山川 和弘; 井上 有史  てんかん研究  22-  (1)  58  -59  2004/02
• Autosomal dominant epilepsy with febrile seizure plus.

  M Ito; H Nagafuji; G Fukuma; S Hirose; T Sugawara; E Mazaki; K Yamakawa; Y Shirasaka; T Okuno; T Miyajima; A Mitsudome; K Wada; S Kaneko  EPILEPSIA  45-  61  -61  2004
• The genetics of juvenile myoclonic epilepsy: where are we going?

  AV Delgado-Escueta; T Suzuki; ME Alonso; MT Medina; D Bai; JN Bailey; A Ochoa; AJ Prado; A Rasmussen; FR Donnadieu; A Daga; K Yamakawa  EPILEPSIA  45-  28  -28  2004
• Missense mutations of the voltage-gated Na+ channel alpha(i) and alpha(ii) subunit genes (Na(v)1.1, Na(v)1.2) in patients with febrile and afebrile seizures.

  T Sugawara; Y Tsurubuchi; KL Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa  EPILEPSIA  45-  58  -59  2004
• An update on the genetics of juvenile myoclonic epilepsy

  A Delgado-Escueta; T Suzuki; MT Medina; ME Alonso; R Morita; DS Bai; Y Inoue; M Osawa; S Kaneko; H Oguni; K Yamakawa  EPILEPSIA  44-  21  -21  2003
• Cell death in transgenic mice model of Lafora's disease

  J Machado-Salas; MR Avila; K Yamakawa; T Sakamato; Y Hoshii; T Akagi; H Gomi; T Suzuki; K Amano; KL Agarwala; Y Hasegawa; DS Bai; T Ishihara; T Hashikawa; S Itohara; E Cornford; H Niki; AV Delgado-Escueta  ANNALS OF NEUROLOGY  54-  S54  -S54  2003
• Research on the trial of gene diagnosis setting of febrile convulsion, autosome dominance epilepsy febrile convulsion plus and infant seriousness myoclonus epilepsy.

  兼子直; 岡田元宏; 伊藤正利; 宮島祐; 白坂幸義; 松尾宗明; 山川和弘; 若井周二; 和田一丸  厚生労働省精神・神経疾患研究委託費による研究報告集 平成14年度 (2年度班・初年度班)  14  2003
• P-47 新しいナトリウムイオンチャンネル α1-subunit (SCN1A) の変異を認めた GEFS+ の一家系

  山崎 悦子; 菅原 隆; 真崎 恵美; 藤原 建樹; 八木 和一; 山川 和弘; 井上 有史  日本てんかん学会プログラム・予稿集  (37)  172  -172  2003
• A gene mutated in juvenile myoclonic epilepsy encodes a protein with EF-hand

  T Suzuki; AV Delgado-Escueta; ME Alonso; R Morita; MT Medina; S Ganesh; D Bai; T Sugimoto; JN Bailey; A Ochoa; JA Prado; A Rasmussen; Peek, JR; S Cordova; F Rubio-Donnadieu; Inoue, X; M Osawa; S Kaneko; H Oguni; K Yamakawa  ANNALS OF NEUROLOGY  52-  (6)  865  -865  2002/12
• てんかんとナトリウムチャネル変異 (特集 一価チャンネル)

  山川 和弘  生体の科学  53-  (4)  312  -315  2002/07
• 乳児重症ミオクロニーてんかんの遺伝型と表現型に関する検討

  藤原 建樹; 菅原 隆; 福島 克之; 高橋 幸利; 渡辺 雅子; 原 啓太; 八木 和一; 山川 和弘; 井上 有史  脳と発達  34-  (Suppl.)  S131  -S131  2002/06
• I C11 Hunting the disease gene for juvenile myoclonic epilepsy(JME)

  Suzuki Toshimitsu; Morita Ryoji; Ganesh Subramaniam; Sugimoto Yoshihisa; Inazawa Johji; Delgado-Escueta Antonio V.; Yamakawa Kazuhiro  日本てんかん学会プログラム・予稿集  (36)  135  -135  2002
• Juvenile myoclonic epilepsy in chromosome 6p12: Clinical and genetic advances,Epilepsia mioclónica juvenil en el cromosoma 6p12: Avances clínicos y genéticos

  Delgado-Escueta, A.V.; Bai, D.; Bailey, J.; Medina, M.T.; Alonso, M.E.; Morita, R.; Suzuki, T.; Ganesh, S.; Sugimoto, T.; Yamakawa, K.; Ochoa, A.; Jara-Prado, A.; Rasmussen, A.; Ramos-Peek, J.; Cordova, S.; Rubio-Donnadieu, F.  Revista de Neurologia  35-  (1)  82  -86  2002  [Refereed]
  
• Influence of X-chromosome inactivation on Rett syndrome phenotypes.

  T Kubota; Y Nomura; K Amano; K Oshina; K Yamakawa; M Segawa; Y Goto  AMERICAN JOURNAL OF HUMAN GENETICS  69-  (4)  186  -186  2001/10
• Juvenile myoclonic epilepsy in chromosome 6p11: Recombinations and haplotype sharing reduce the candidate region to 500 kb.

  R Morita; DS Bai; ME Alonso; T Suzuki; Y Sugimoto; K Amano; MT Medina; JN Bailey; A Rasmussen; J Ramos-Peek; S Cordova; F Rubio-Donnadieu; J Inazawa; A Jara-Prada; A Ochoa; K Yamakawa; AV Delgado-Escueta  AMERICAN JOURNAL OF HUMAN GENETICS  69-  (4)  534  -534  2001/10
• A-6 Autosomal dominant epilepsy with febrile seizure plus :

  伊藤 正利; 長藤 洋; 福間 五龍; 廣瀬 伸一; 菅原 隆; 真崎 恵美; 山川 和弘; 白坂 幸義; 奥野 毅彦; 宮嶋 智子; 満留 昭久; 和田 一丸; 兼子 直  日本てんかん学会プログラム・予稿集  (35)  103  -103  2001
• D-21 若年性ミオクローヌてんかん遺伝子(EJM1)領域の物理地図作成と候補遺伝子の同定、解析

  鈴木 俊光; 森田 良治; 杉本 義久; Bai Dong-Sheng; Delgado-Escueta Antonio V.; 山川 和弘  日本てんかん学会プログラム・予稿集  (35)  159  -159  2001
• H-6 ラフォーラ病原因遺伝子EPM2Aの発生過程における発現の解析及び系統学的比較

  鶴谷 直美; Ganesh Subramaniam; 天野 賢治; 鈴木 俊光; Delgado-Escueta Antonio V.; 山川 和弘  日本てんかん学会プログラム・予稿集  (35)  188  -188  2001
• D-22 熱性けいれんを伴う全般てんかん或いは部分発作臨床例のNaチャネル・α-サブユニットの変異解析

  菅原 隆; 鶴渕 雄士; 伊藤 正利; 福間 五龍; 真崎 恵美; 長藤 洋; 野田 昌晴; 井本 啓二; 和田 一丸; 満留 昭久; 兼子 直; Montal Mauricio; 永田 啓一; 廣瀬 伸一; 山川 和弘  日本てんかん学会プログラム・予稿集  (35)  159  -159  2001
• Evolutionary conservation and differential expression of EPM2A gene.

  S Ganesh; K Shoda; AV Delgado-Escueta; K Yamakawa  AMERICAN JOURNAL OF HUMAN GENETICS  67-  (4)  178  -178  2000/10
• Childhood absence epilepsy in 8q24: Refinement of candidate region and construction of physical map.

  Y Sugimoto; R Morita; K Amano; CYG Fong; PU Shah; IP Castroviejo; S Khan; AV Delgado-Escueta; K Yamakawa  AMERICAN JOURNAL OF HUMAN GENETICS  67-  (4)  302  -302  2000/10
• Lafora病の分子遺伝学 (5月第1土曜特集 てんかん--分子遺伝学の展開) -- (臨床の進歩と分子遺伝学の展開--てんかん関連疾患)

  山川 和弘  医学のあゆみ  193-  (6)  565  -569  2000/06
• D-16 ハプロタイプ解析による8q24小児欠神てんかん(CAE)遺伝子領域の同定

  杉本 義久; 森田 良治; 宮崎 恵美; 新田 あずさ; 堤 享枝; Antonio V Delgado-Escueta; 山川 和弘  日本てんかん学会プログラム・予稿集  (34)  139  -139  2000
• D-17 ラフォーラ病原因遺伝子EPM2Aがコードする蛋白の細胞内局在部位の検討

  山川 和弘; Subramaniam Ganesh; Lal Agarwala Kishan; 上田 和則; 臼井 健郎; 庄田 恵子; Antonio Delgado-Esqueta  日本てんかん学会プログラム・予稿集  (34)  140  -140  2000
• D-18 若年性ミオクローヌスてんかん遺伝子(EJM1)領域の物理地図作成と候補遺伝子の探索

  森田 良治; 杉本 義久; 鈴木 俊光; Sheng Bai Dong; Antonio Delgado-Escueta; 山川 和弘  日本てんかん学会プログラム・予稿集  (34)  140  -140  2000
• Childhood absence epilepsy in 8q24: haplotypes, recombinations, and construction of physical map.

  R Morita; Y Sugimoto; GCY Fong; PU Shah; IP Castroviejo; S Khan; K Yamakawa; AV Delgado-Escueta  AMERICAN JOURNAL OF HUMAN GENETICS  65-  (4)  A436  -A436  1999/10
• The human and mouse homologues of the epilepsy gene, EPM2A: Isolation and characterization of full-length transcripts and mutation detection in Lafora disease families.

  S Ganesh; K Shoda; K Amano; A Uchiyama; S Kumada; AV Delgado-Escueta; K Yamakawa  AMERICAN JOURNAL OF HUMAN GENETICS  65-  (4)  A297  -A297  1999/10
• Novel polymorphisms in the promoter region of the neurotrophin-3 gene: Possible role in the pathogenesis of schizophrenia?.

  A Akahane; M Hattori; H Kunugi; R Morita; K Yamakawa; S Nanko  MOLECULAR PSYCHIATRY  4-  S30  -S30  1999/09
• A-3 小児欠神てんかん(CAE)遺伝子領域8q24における候補遺伝子の探索

  杉本 義久; 森田 良治; 宮崎 恵美; 新田 あずさ; 堤 享枝; Delgado-Escueta A.V.; 山川 和弘  日本てんかん学会プログラム・予稿集  (33)  106  -106  1999
• A-2 ラフォーラ型進行性ミオクローヌスてんかん原因遺伝子EPM2Aの完全長cDNAクローン、5'alternative splicing product、マウスホモログの単離解析と患者における変異の検索

  菅原 隆; Ganesh Subramaniam; 庄田 恵子; 天野 賢治; 熊田 聡子; 内山 晃; Delgado-Esqueta Antonio V.; 山川 和弘  日本てんかん学会プログラム・予稿集  (33)  105  -105  1999
• D-33 ラフォーラ型進行性ミオクローヌスてんかん遺伝子領域6q24における物理地図の作成および候補遺伝子の単離

  山川 和弘; Ganesh S.; 森田 良治; 宮崎 恵美; 神田 あずさ; Fong C.Y.G.; Escueta A.V Delgado  日本てんかん学会プログラム・予稿集  (32)  162  -162  1998
• D-32 小児欠神てんかん(CAE)遺伝子領域8q24における物理地図の作成および候補遺伝子の単離

  杉本 義久; 森田 良治; 宮崎 恵美; 神田 あずさ; Fong C.Y.G.; Escueta A.V.Delgado; 山川 和弘  日本てんかん学会プログラム・予稿集  (32)  161  -161  1998
• IMPROVED METHODS FOR CHARACTERIZATION OF YAC CLONES AND THEIR USE IN CONSTRUCTION OF YAC CONTIGS ON HUMAN CHROMOSOME-3Q

  LA JAMES; K YAMAKAWA; Y NAKAMURA; DJ OGILVIE  AMERICAN JOURNAL OF HUMAN GENETICS  53-  (3)  1785  -1785  1993/09
• IDENTIFICATION AND CHARACTERIZATION OF A 9-KB SOMATIC HOMOZYGOUS DELETION AT 3P21.3-P22 IN A LUNG-CANCER CELL-LINE

  K YAMAKAWA; Y MURATA; M TAMARI; T TAKAHASHI; Y HORIO; K HIBI; S YOKOYAMA; J INAZAWA; T TAKAHASI; Y NAKAMURA  AMERICAN JOURNAL OF HUMAN GENETICS  53-  (3)  390  -390  1993/09
• CONSTRUCTION OF A GENETIC-LINKAGE MAP OF HUMAN CHROMOSOME-3, AND ITS APPLICATION TO ANALYSIS OF RENAL-CELL CARCINOMA

  K YAMAKAWA; EI TAKAHASHI; R MORITA; Y NAKAMURA  CYTOGENETICS AND CELL GENETICS  58-  (3-4)  1883  -1883  1991

Research Grants & Projects

• ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 2024/02 -2026/03 

  Author : 山川 和弘
• ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 2023/04 -2026/03 

  Author : 山川 和弘
• SCN2A neurodevelopmental disorders and environments

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2020/04 -2023/03 

  Author : Yamakawa Kazuhiro

   

  Investigation of Nav1.2 distribution on Scn1a-GFP transgenic mouse revealed that in neocortex Nav1.2 is expressed in cortico-striatal, cortico-thalamic and cortico-cortical projection neurons, while Nav1.1 is expressed in pyramidal tract projections. Conditional eliminations of Scn2a in mPFC (medial prefrontal cortex) and VTA (ventral tegmental area) regions revealed that the elimination in mPFC decreased PPI (prepulse inhibition) while that in VTA accelerates PPI. These results indicate that eliminations in these regions have opposite effects for schzophrenia-related social behaviors.
• Comprehensive analysis of unmyelinated fibers in central nervous system

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2017/04 -2022/03 

  Author : Nukina Nobuyuki

   

  Unmyelinated fibers in the central nervous system are known to exist in hippocampal mossy fibers, cerebellar parallel fibers and striatal projection fibers. Previously, we and others reported diffuse distribution of Nav1.2, a voltage-gated sodium channel α-subunit encoded by the SCN2A gene, on unmyelinated striatal projection fibers. Mutations in the SCN2A gene are associated with epilepsies and autism. In this study, we investigated the distribution of Nav1.2 on the unmyelinated fibers in the corpus callosum and stria terminalis by immunohistochemistry and immunoelectron microscopy analysis, suggesting that diffuse localization of Nav1.2 on mid-axonal regions can be a useful marker for unmyelinated fibers. Furthermore, Scn2a KO/+ mice exhibited t a spectrum of phenotypes commonly observed in models of schizophrenia and autism spectrum disorder, suggesting that Nav1.2 has a pathological role in psychiatric disorders.
• Epilepsy mechanism investigation and therapy development

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2013/05 -2018/03 

  Author : Yamakawa Kazuhiro; SUZUKI Toshimitsu

   

  Juvenile myoclonic epilepsy (JME) is the most frequent epilepsy. In this study, we identified ICK (intestinal cell kinase) as the gene responsible for JME, the disease mutations interfere neuronal migration, and Ick knockout mouse showed an increased siesure susceptibility to isoflirane（Bailey et al, New Eng J Med 378:1018-28, 2018). Similarly to the EFHC1 that we previously reported as a JME gene, ICK also play roles in microtubule regulation and neural cell migration suggesting an overlapping pathomechanism for JME.
• Munc18-1異常によるてんかん発症メカニズムの解明

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 2012 -2013 

  Author : 山川 和弘; MALINTAN Nancy T

   

  神経シナプス蛋白Munc18-1はsyntaxin-1に結合し、シナプス小胞の膜への輸送を制御しているたんぱくであり、それをコードする遺伝子Stxbp1の変異は重篤な早期発症てんかん性脳症である大田原症候群の患者で高頻度に見いだされている。Munc18-1の欠損はsyntaxin-1の膜移送を阻害し、シナプス小胞の膜への融合そのものの阻害につながり、これが大田原症候群の発症の背景にあると考えられる。しかしながら、Munc18-1の詳細な組織内分布や神経細胞種(興奮性、抑制性、さらにはそのサブクラス)における分布やその態様など、その詳細は未だ明らかではなく、更には、何故Munc18-1の機能異常が重篤な難治てんかんを引き起こすのかは全く不明である。これらを明らかにすべく、Munc18-1スタンダード欠損マウスおよびStxbp1-floxedマウスを導入した。更に、Stxbp1-floxedマウスと大脳皮質/海馬興奮性神経細胞特異的に組み替え酵素Creリコンビナーゼを発現するEmx1-Creトランスジェニックマウスと掛け合わせることにより大脳皮質/海馬興奮性神経細胞特異的にMunc18-1を欠損したマウスを作成した。また、Stxbp1-floxedマウスと抑制性神経細胞特異的に組み替え酵素Creリコンビナーゼを発現するVGAT-Creトランスジェニックマウスと掛け合わせることにより抑制性神経細胞特異的にMunc18-1を欠損したマウスを作成した。これらのマウスモデルの解析途上で、採用研究員ナンシー・マリンタンの私的事情による退職により研究中断となった。現在までに、外部に発表するに足る成果は得られていない。受け入れ研究室としては、後継研究者を見いだし次第、本研究を再開・継続する予定である。
• Investigation of molecular pathology of Down syndrome by high efficient system

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2010 -2012 

  Author : YAMAKAWA Kazuhiro

   

  To understand the molecular pathology of Down syndrome, we established a high efficient system in that mouse models with partial trisomy 16 which is syntenic to human chromosome 21. We successfully established 1) Avian cells harboring partial mouse chromosome 16 segments, 2) Mouse ES cells harboring extra partial mouse chromosome 16 derived from the avian cells, and 3) Mice from those ES cells. These resources should greatly contribute to Down syndrome studies.
• Analysis of molecular biology of epilepsy

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2004 -2008 

  Author : KANEKO Sunao; WADA Kazumaru; OKADA Motohiro; YASUI-FURUKORI Norio; SHIMIZU Toshio; KOJIMA Toshio; UENO Shinya; FUKUSAWA Masashi; NAKAGAWA Kazuko; HIROSE Shinichi; YAMAKAWA Kazuhiro; SATOH Kei; TSUJI Shoji; KUWANO Ryozo; ARAKI Kimi; WAKABAYASHI Koichi

   

  (1)各種てんかん類型の責任遺伝子を同定し、モデル動物の基準を満たす世界初のヒトてんかん遺伝子導入モデル動物作出に成功した。このラットを用い、分子病態を解析し、病態補正の可能性、その臨界期の存在を明らかにし、根治療法開発への突破口を開いた。(2)遺伝情報から最適の抗てんかん薬(AED)の種類と至適量を選択する個別化治療開発の基本フレームを提案した。(3)てんかんの遺伝子診断用DNA chip(プロトタイプ)を世界に先駆けて開発した。
• Investigation of modifiers for epilepsy by using mouse models

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2006 -2007 

  Author : YAMAKAWA Kazuhiro; YAMAGATA Tetsshi

   

  Severe myoclonic epilepsy in infancy (SMEI) is caused by mutations in the SCN1A gene encoding a voltage-gated sodium channel alpha-subunit type-1, Nav1.1. The mouse with Scnla nonsence mutation (Scnla-KI) that we recently generated and reported (Ogiwara, et. al., J Neurosci 22: 5903-5914, 2007) shows severe epileptic seizures and the homozygote die within 2 weeks. In Scnla-KI mouse, no Nav1.1 protein is detected indicating that haploinsufficiency, rather than dominant-negative effects of truncated Nav1.1 proteins, is the pathological basis for SMEI. We also showed the functional defects specifically in inhibitory neurons and not in excitatory neurons. Furthermore, we found that in wild-type mouse Nev1.1 is localized at axon and somata of a subclass of inhibitory neurons, parvalbumin-positive basket cells. The Scnla-KI with B6 genetic background shows severee phenotypes compared to that wit 129 background. By using MSM mice, we identified the modifier gene locus at X-chromosome, and narrowed the region by usin the consomic mouse developed by Dr. Toshihiko Shiroishi.
• Investigation of the pathology for epileptic sodium channelopathy

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2004 -2005 

  Author : YAMAKAWA Kazuhiro; OGIWARA Ikuo

   

  Recently, multiple mutations of voltage-gated sodium channel genes have been reported in patients with epilepsies including generalized epilepsy with febrile siezures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI). Many of the mutations were reported in the SCN1A gene, but previously we reported a missense mutation of SCN2A gene in a patient with GEFS+. In this research project, we found a truncation mutation of SCN2A gene in a patient with intractable epilepsy with severe mental decline and reported in a internationally reputed journal (Kamiya et al., 2004). We also found that the truncated protein has a dominant-negative effect that possibly elucidate the disease mechanism. In order to further investigate the mechanism, we are trying to make a knock-in mouse with the SCN2A truncation mutation. The construction of the targeting vector was completed and the generation of the mice are now in trial. For the SCN1A studies, we reported a functional analysis of a mutation found in an atypical SMEI, ICEGTC (Rhodes et al., 2005). We also reported a familial case of SMEI (Kimura et al., 2005) and a new case of GEFS+ (Nagao et al., 2005).
• Investigation of pathology for progressive myoclonus epilepsy

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2002 -2003 

  Author : YAMAKAWA Kazuhiro

   

  LD is a fatal autosomal recessive epilepsy characterized by stimuli sensitive myoclonus, grand mal seizures, and progressive intellectual and neurological deterioration. The EPM2A gene has been reported to be responsible for LD. We found multiple disease mutations of EPM2A in LD patients, and also identified a subclass of LD who shows an early onset cognitive defect and correlated with EPM2A exon 1 mutations. We reported that the laforin protein encoded by the EPM2A gene has a dual-specificity phosphatase activity, associates with polyribosome, and interacts with the HIRIP5 protein with NifU-like domain. We recently generated and reported the EPM2A KO mice those develop neurodegeneration and other features similar to those of LD patients.
• 乳児重症ミオクロニーてんかん発症機構及び薬理学的対症法の検討

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 2002 -2003 

  Author : 菅原 隆; 山川 和弘

   

  乳児重症ミオクロニーてんかん(SMEI)は、0歳児の半ばに発症し、日或いは週単位の全般性強直間代発作や易変性ミオクロニー・側交代性片側間代発作等を有する重篤なてんかんである。2001年にClaesらは、7人の患者全例の電位依存性Naチャネルα-サブユニットのタイプIに遺伝子異常があることを報告した。他の調査でも非常に高い割合(70%以上)で遺伝子異常が発見され、病因遺伝子として認められた。中枢神経系の神経細胞体に発現する電位依存性Naチャネルの大多数を占めるサブタイプIのナンセンス変異やフレームシフト等の遺伝子異常は、チャネル機能を著しく欠損させ、小児期の精神運動発達に大きな影響を及ぼすと容易に推定される。しかしながら発作を誘発するメカニズムは明らかではなく、最初に遺伝子異常がもたらすチャネル機能の変化を調べる必要があった。 我々は、ライブラリースクリーニング等で採取した全長cDNAをベクターに組み込み、mutagenesis法を用いて遺伝子変異を持つナンセンス変異3種類;ミスセンス変異3種類、計6種類の変異チャネルを作成した。この変異チャネルをヒト胎児細胞に発現させ、機能異常について調べた。 パッチクランプ法を用いた電気生理学的な実験では、6種類の変異全てがNa^+電流を大きく減少させる効果を持つことを世界で初めて明らかにした。これは、同じ電位依存性Naチャネルα-サブユニットのタイプIに遺伝子異常が報告されている熱性痙攣プラスを伴う全般てんかん(GEFS+)でいわれているNa^+イオンの過剰流入と逆の変化である。この違いがSMEI特有の症状である精神運動発達遅滞や薬剤に対する耐性の誘因であるということが推定される。
• Identification of the responsible genes for child epilepsy targeting abnormalities in the pore region of ion channels expressed in the central nerve system

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2000 -2002 

  Author : HIROSE Shinichi; KANEKO Sunao; YAMAKAWA Kazuhiro; MITSUDOME Akihisa; WADA Kazumaru

   

  We have made the following discoveries based on the genetic analyses searching mutations of genes encoding ion channels expressed in the central nerve system. The specimens used were in the bank holding DNA samples obtained from patients with various epilepsy syndrome. Two novel mutations have been identified in the gene encoding a1 subunit of Na+ channel, SCN1A in patients with generalized epilepsy with febrile seizures plus (GEFS+). Furthermore, we found that the gene encoding a2 subunit of Na+ channel, SCN2A is associated with autosomal dominant epilepsy with febrile seizures plus. The mutation result in slow inactivation in the channel function thereby cause hyper inimitability of the channel. A number of mutations of SCN1A were also identified in Japanese patients with severe myoclonic epilepsy in infancy. We have done parallel studies where channel function harboring the mutations identified in the above series of study in in vitro system and transgenic animals were also generated.
• Genetic study of epilepsies and febrile convulsions

  Japan Society for the Promotion of Science：Grants-in-Aid for Scientific Research

  Date (from‐to) : 2000 -2002 

  Author : KANEKO Sunao; MITSUDOME Akihisa; SANO Akira; TSUJI Shoji; ITO Masatoshi; YAMAKAWA Kazuhiro

   

  This report summarizes our own discoveries of novel mutations in the genes of various epilepsy phenotypes, and of the main results of functional analyses of the mutated genes. As a cause of benign familial neonatal convulsions (BFNC), we identified mutations of KCNQ2 and KCNQ3. The pathogenic mechanisms of age-dependent development and spontaneous remission of BFNC are associated with the interaction between age-dependent reduction of inhibitory KCNQ-channel activity and age-dependent functional switching of GABAergic-system from excitatory to inhibitory action in neonatal CNS. A mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with autosomal dominant nocturnal frontal lobe epilepsy caused faster desensitization of rat receptor expressed in oocytes. We identified a novel gene in the EJM1 region on chromosome 6p12-p11 in families with JME (in contribution), and also identified a previously unknown, full-length of cDNA encoding a presumably structural protein, which we named chorein, in patients with chorea-acanthocytosis. We reported that autosomal dominant epilepsy with febrile seizure plus and severe myoclonic epilepsy of infancy were associated with various mutations of genes encoding both Na^+ channel subunit (SCN1A, SCN2A) and γ2-subunit of the GABA-A receptor (GABRG2). Laforin (a cytoplasmic protein associated primarily with polyribosome) is a dual-specificity phosphatase coded by the EPM2A gene defective in Lafora's disease. Exon 1 mutations of EPM2A was associated with an early-onset cognitive deficit subphenotype. Genes responsible for common phenotypes of epilepsy have been uncovered yet, however, these will undoubtedly be discovered soon.
• 肺癌の発生機序と肺癌細胞の特性-病理組織学的.分子生物学的解析-

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 1991 -1993 

  Author : 土屋 永寿; 河嶋 和子; 井内 康輝; 高橋 隆; 山川 和弘; 下里 幸雄

   

  1.肺癌発生機序に関する成果として、(1)肺癌株化細胞において第3染色体短腕の共通欠失領域3p21.3-22内に数Mbのホモ欠失領域を同定し、この領域より複数の癌抑制遺伝子候補のcDNAを単離した。そのなかには、細胞接着インテグリン分子の新しいサブユニット遺伝子も含まれており、現在これらの遺伝子につきヒト肺癌例における変異の有無を解析中で、真の癌抑制遺伝子同定もまじかいものと思われる。(2)肺癌の癌抑制遺伝子として、RB,p53,および染色体3p上の遺伝子以外に、新たに染色体9q上に扁平上皮癌の、8q上に腺癌の発生増殖と関係する癌抑制遺伝子の存在が示唆された。(3)気道上皮の分化、増殖にはビタミンAが深く関わっていることが明瞭となり、血清無添加培養による化生の誘導にもビタミンAの関与が推察された。(4)気道異型上皮の遺伝子変異の解析は、マスタードガス障害者例のような長期ホルマリン固定材料では困難であるが、最近のホルマリン固定手術例では可能なことが明かとなった。(5)アスベスト量と発癌の間には関連が認められた。 2.癌細胞の特性に関する成果として、(1)肺癌の悪性度はp53遺伝子変異の有無、L-mycのRFLP、3pの欠失、クララ細胞分泌蛋白の発現などど関係しており、これらの遺伝子変異や蛋白質発現の検索が、がんの早期診断、術後患者における高危険群の同定、治療方針の選択などに有用である可能性が示唆された。(2)HuD抗原が小細胞癌の診断マーカーとして有効か、その発現量が小細胞癌の臨床病理学的特異性と相関するか、などに関してはさらなる検索が必要がある。(3)クララ型と 型腺癌では、クララ細胞分泌蛋白陽性例が陰性例よりも予後が良好であった。 3.L-myc遺伝のタンパク質翻訳開始部位を標的としたアンチセンスDNA分子による細胞増殖の抑制は、mRNAの発現抑制ではなく、L-mycタンパク質翻訳過程の制御によるものと考えられた。
• 癌抑制遺伝子の解明

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 1990 -1993 

  Author : 中村 祐輔; 江見 充; 堀井 明; 山川 和弘

   

  APC遺伝子の発癌過程における役割を調べるために家族性大腸腺腫症(FAP)患者に生じた多数の腺腫におけるAPC遺伝子の体細胞レベルでの異常を検索した。腺腫を大きさや異型度にしたがって3群に分類して比較したところ、APCの変異はいずれの群においても同程度に認められたことから、APCのtwo-hit変異が腫瘍の発生の初期段階において非常に重要な役割を果たしていることが明らかとなった。また、同一患者の10個の腫瘍に認められた変異はすべて異なっていたにも関わらず、わずかに15塩基の領域(APCの全翻訳領域は8529塩基)に集中していることや正常APC遺伝子を含む染色体欠失が特定の個人にのみ認められたことから、体細胞での変異はランダムに生ずるのではなく、何らかの機序に左右されていることが示唆された。また、胃においても腺腫の段階でAPC遺伝子の異常が認められ、胃癌の発生段階においてもAPCの不活性化は早期の段階で重要な役割をはたしているものと考えられる。APCに関しては、さらに、FAP患者の発症前診断に利用するため、PCRにて簡単に診断できる12システムを確立した。このいずれかの系を用いることによってFAP家系の約40%が診断可能となった。第8染色体短腕のp21.3-p22領域にある大腸癌・肝癌・肺癌の発生・進展に関与する癌抑制遺伝子については遺伝子を約600kbの範囲に絞り込みその領域からエキソントラッピング法によってすでに50個近い断片を単離しており癌における再構成や変異の有無を検索している。第3染色体p21.3領域の肺癌・腎癌・卵巣癌・子宮癌に関与する癌抑制遺伝子についても約900kbの領域に限局化し、この領域から複数の候補遺伝子を単離している。乳癌についても第17染色体q21.3から2症例において再構成のおこっているcDNA(MDC遺伝子)を単離した。
• 肺癌の発生機序と肺癌細胞の特性ー病理組織学的・分子生物学的解析ー

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 1991 -1992 

  Author : 土屋 永寿; 鈴塚 五郎; 高橋 隆; 横田 淳; 山川 和弘; 下里 幸雄

   

  A.肺癌発生機序に関する成果として、1)肺癌の第3染色体短腕(3p)の共通欠失領域3p21.3-3p22にマップされた2つのコスミドマーカーにより肺癌株化細胞でホモ欠失領域を検出した。これにより同領域の標的癌抑制遺伝子の単離は近い。2)RB遺伝子及びp53遺伝子を各々の遺伝子に異常を持つ肺癌株化細胞に導入実験した結果、正常のRB遺伝子、p53遺伝子にのみ増殖抑制効果があることを確認した。3)L-myc遺伝子に対するアンチセンスDNAを合成し小細胞癌株に対する増殖効果を検討した結果、L-myc俗伝子発現制御が株化細胞の増殖を制御すること、その作用部位がL-myc遺伝子の転写過程より後ろであることを明らかにした。4)脱上皮器官移植実験により、vitaminA欠乏時出現する化生性変化の細胞発生を明らかにし、またvitamina欠乏の4NQO誘発mouse肺腫瘍発生への影響を明らかにした。B.癌細胞の特性に関する成果として、1)肺癌原発巣とリンパ節転移巣のヘテロ接合性の消失の比較により肺癌転移抑制遺伝子の存在の可能性が示唆された。2)ホルマリン固定パラフィン包埋組織の癌組織や微小な非癌部粘膜上皮病変から、p53遺伝子異常の検索が可能であることをしめした。3)小細胞癌や扁平上皮癌ではテロメア長の変化が細胞増殖の指標になることが示唆されたが、腺癌では細胞増殖の指標にはならなかった。4)肺癌切除例でras遺伝子やp53遺伝子に変異を有する群では有意に予後不良であること、またTGF高発現群は有意に予後良好であることを示した。5)NCAMはヒト肺癌組織においても神経内分泌腫瘍の形態診断の助けとして有用なマーカーであることが確認された。6)クララ細胞様腫瘍組織形態とCC10(クララ特異的蛋白)の発現がよく相関し、クララ細胞が肺腺癌の発生母細胞の一つである可能性が示唆された。7)アスベストとベンツピレン投与によりハムスターに発生した肺腫瘍は異型度の増加につれAgNORの個数が優位に増加した。
• 乳癌・大腸癌における癌抑制遺伝子の単離

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 1990 -1992 

  Author : 中村 祐輔; 谷上 信; 山川 和弘; 堀井 明; 佐藤 孝明

   

  遺伝性大腸癌の1種であり、数千ものポリープが生じ大腸癌が多発する家族性大腸ポリポーシス症(FAP)の原因遺伝子(APC遺伝子)を昨年度単離した。この2843アミノ酸からなる蛋白の金翻訳領域について150例のFAP患者における異常を検索し、97例についてのAPC遺伝子の変異を明らかにした。6例のミスセンス変異を除く91例は蛋白の合成を中断する変異であり、このうち3分の2は塩基の挿入・欠失によるフレイムシフトによって起こっていた。この情報をもとに100%確実な発症前診断法を確立した。これによって、正常と診断された人は、頻回に検査を受ける必要がなくなるだけでなく、病気になるのではとの不安から解放されるようになった。また、不幸にして異常遺伝子を受け継ぎ、将来、発症すると診断された人でも、リスクを知ることによって確実に早期発見・治療を行うことによって、患者を癌死から救うことにつながるものと期待される。さらに、APC遺伝子が一般に見られる散発性の大腸のポリープや癌においても高頻度に異常を起こしていることを明らかにし、この遺伝子の異常が大腸癌発生の非常に初期の段階で重要な役割を果たしていることを明らかにした。他の癌におけるAPC遺伝子の関与の有無を調べるため、胃癌・肺癌・肝癌・腎癌・膵癌における異常を検索したところ、肺癌・肝癌・腎癌・では異常は検出されなかったが、腸上皮化生を伴う胃癌や膵癌においては変異を起こしていることが明かとなり、APC遺伝子の異常が消化管の腺癌に共通したものであることが示唆された。乳癌に関しては、多数の乳癌症例における染色体欠失を詳細に調べることによって第11染色体の短腕と第17染色体の短腕の欠失が乳癌のリンパ節転移に強く相関していることを明らかにするとともに、第17染色体長腕に存在している遺伝性乳癌の原因遺伝子を約2、000kbの領域にまで限局することができた。

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