SUZUKI Toshimitsu

Researcher Information

Degree

• Ph.D.（2005/09 Tokyo Medical and Dental University）

URL

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

ORCID ID

•  https://orcid.org/0000-0003-0585-5692

J-Global ID

• 201801001730401234

Research Interests

• neurodevelopmental disorder   autism spectrum disorder   epilepsy   疾患責任・関連遺伝子の同定   疾患の発症機序の解明   

Research Areas

• Life sciences / Neuroscience - general
• Life sciences / Psychiatry
• Life sciences / Genetics

Academic & Professional Experience

• 2021/03 - Today  Institute of Brain Sciences, Nagoya City University Graduate School of Medical SciencesDepartment of Neurodevelopmental Disorder GeneticsLecturer
• 2019/10 - 2021/02  Institute of Brain Sciences, Nagoya City University Graduate School of Medical SciencesDepartment of Neurodevelopmental Disorder GeneticsAssistant Professor
• 2018/04 - 2019/09  RIKEN Center for Brain ScienceLab. for NeurogeneticsResearch Scientist
• 2009/04 - 2018/03  RIKEN Brain Science InstituteLab. for NeurogeneticsResearch Scientist
• 2006/04 - 2009/03  RIKEN Brain Science InstituteLab. for NeurogeneticsSpecial Postdoctoral Researcher
• 2002/10 - 2006/03  RIKEN Brain Science InstituteLab. for NeurogeneticsResearch Associate
• 1999/04 - 2002/09  RIKEN Brain Science InstituteLab. for NeurogeneticsTechnical stuff

Published Papers

• Epilepsy protein myoclonin1 interacts with inositol 1,4,5-trisphosphate receptor and reduces calcium ions stored in endoplasmic reticulum

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

  Exploration of Neuroscience Open Exploration Publishing 4 2025/07 [Refereed]
  
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• 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; Elisabetta Amadori; Danielle M. Andrade; Grazia Annesi; Ganna Balagura; Simona Balestrini; Carmen Barba; Karen Barboza; Tobias H. Baumgartner; Betül Baykan; Nerses Bebek; Felicitas Becker; Caitlin A. Bennett; Samuel F. Berkovic; Ahmad Beydoun; Francesca Bisulli; Ingo Borggräfe; Christian Bosselmann; Robyn M. Busch; Laura Canafoglia; Barbara Castellotti; I-Jun Chou; Seo-Kyung Chung; Chris Cotsapas; Orrin Devinsky; Dennis J. Dlugos; Viola Doccini; Colin P. Doherty; Colin A. Ellis; Hany El-Naggar; Meghan Evans; Thomas N. Ferraro; Mark Fitzgerald; Francesco Fortunato; Jacqueline A. French; Elena Freri; Monica Gagliardi; Antonio Gambardella; Alica Goldman; Tiziana Granata; Namrata Gupta; Kevin Haas; Shinichi Hirose; Olivia Hoeper; Po-Chen Hung; Michael R. Johnson; Nathalie Khoueiry-Zgheib; Jean Khoury; Karl Martin Klein; Susanne Knake; Andreas Koupparis; Ioanna Kousiappa; Roland Krause; Wolfram S. Kunz; Ruben I. Kuzniecky; Patrick Kwan; Angelo Labate; Austin Lacey; Dennis Lal; Stephan Lauxmann; Charlotte Lawthom; Holger Lerche; Costin Leu; David Lewis-Smith; Calwing Liao; Chih-Hsiang Lin; Kuang-Lin Lin; Tarja Linnankivi; Daniel H. Lowenstein; Colin H.T. Lui; Francesca Madia; Stefania Magri; Louis Maillard; Lorella Manna; Paula Marques; Thomas Mayer; Christopher M. McGraw; Kimford J. Meador; Davide Mei; Raffaella Minardi; Barbara Mostacci; Lorenzo Muccioli; Karen Müller-Schlüter; Wassim Nasreddine; Benjamin M. Neale; Bernd A. Neubauer; Savvas S. Papacostas; Elena Parrini; Manuela Pendziwiat; Slavé Petrovski; William O. Pickrell; Robert H.W. Powell; Francesca Ragona; Mark I. Rees; Sylvain Rheims; Antonella Riva; Felix Rosenow; Philippe Ryvlin; Lynette G. Sadleir; Barış Salman; Andrea Salmon; Ilaria Sammarra; Marcello Scala; Ingrid E. Scheffer; Susanne Schubert-Bast; Andreas Schulze-Bonhage; Beth R. Shiedley; Sanjay M. Sisodiya; Michael R. Sperling; Bernhard J. Steinhoff; Ulrich Stephani; Pasquale Striano; Adam Strzelczyk; Rainer Surges; Toshimitsu Suzuki; Mariagrazia Talarico; Randip S. Taneja; George A. Tanteles; Meng-Han Tsai; Birute Tumiene; Dilsad Turkdogan; Luc Valton; Andreas van Baalen; Annalisa Vetro; Randi von Wrede; Ryan G. Wagner; Yvonne G. Weber; Sarah Weckhuysen; Peter Widdess-Walsh; Samuel Wiebe; Stefan Wolking; Kazuhiro Yamakawa; Zuhal Yapıcı; Felix Zahnert; Federico Zara; Milena Zizovic; Gábor Zsurka; Quratulain Zulfiqar Ali; Pauls Auce; Andreja Avbersek; Rudi Balling; Felicitas Becker; Bianca Berghuis; Mojgansadat Borghei; Martin J. Brodie; Ellen Campbell; Gianpiero L. Cavalleri; Krishna Chinthapalli; Antonietta Coppola; John Craig; Norman Delanty; Rita Demurtas; Chantal Depondt; Ben Francis; Antonio Gambardella; Lárus J. Gudmundsson; Kristin Heggeli; Christian Hengsbach; Jane L. Hutton; Andrés Ingason; Michael R. Johnson; Andrea Jorgensen; Karl M. Klein; Bobby P.C. Koeleman; Roland Krause; Martin Krenn; Wolfram S. Kunz; Sarah R. Langley; Holger Lerche; Costin Leu; Anthony G. Marson; Mark McCormack; Rikke S. Møller; Andrew Morris; Hiltrud Muhle; Marina Nikanorova; Terence J. O'Brien; Slave Petrovski; Sarah Rau; Zvonka Rener-Primec; Josemir W. Sander; Narek Sargsyan; Reinhard Schneider; Graeme J. Sills; Sanjay M. Sisodiya; Doug Speed; Prashant K. Srivastava; Hreinn Stefansson; Kári Stefánsson; Pasquale Striano; Marian Todaro; Yvonne G. Weber; Sarah Weckhuysen; Joseph Willis; Stefan Wolking; Federico Zara; Fritz Zimprich; Sanjay M. Sisodiya

  eBioMedicine Elsevier BV 105675 - 105675 2352-3964 2025/04 [Refereed]
  
• 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 [Refereed]
  
• 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 Springer Science and Business Media LLC 61 (2) 622 - 634 0893-7648 2023/08 [Refereed]
  
• 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 55 (9) 1471 - 1482 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) 4392  2023/07 [Refereed]
  
• 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; Epi 25 Collaborative (including Suzuki T)

  The American Journal of Human Genetics Elsevier BV 110 (7) 1110 - 1122 0002-9297 2023/07 [Refereed]
  
• 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 e87495  2023/05 [Refereed]
  
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• 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 2022/09 [Refereed]
  
• Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder

  Itaru Kushima; Masahiro Nakatochi; Branko Aleksic; Takashi Okada; Hiroki Kimura; Hidekazu Kato; Mako Morikawa; Toshiya Inada; Kanako Ishizuka; Youta Torii; Yukako Nakamura; Satoshi Tanaka; Miho Imaeda; Nagahide Takahashi; Maeri Yamamoto; Kunihiro Iwamoto; Yoshihiro Nawa; Nanayo Ogawa; Shuji Iritani; Yu Hayashi; Tzuyao Lo; Gantsooj Otgonbayar; Sho Furuta; Nakao Iwata; Masashi Ikeda; Takeo Saito; Kohei Ninomiya; Tomo Okochi; Ryota Hashimoto; Hidenaga Yamamori; Yuka Yasuda; Michiko Fujimoto; Kenichiro Miura; Masanari Itokawa; Makoto Arai; Mitsuhiro Miyashita; Kazuya Toriumi; Kazutaka Ohi; Toshiki Shioiri; Kiyoyuki Kitaichi; Toshiyuki Someya; Yuichiro Watanabe; Jun Egawa; Tsutomu Takahashi; Michio Suzuki; Tsukasa Sasaki; Mamoru Tochigi; Fumichika Nishimura; Hidenori Yamasue; Hitoshi Kuwabara; Tomoyasu Wakuda; Takahiro A. Kato; Shigenobu Kanba; Hideki Horikawa; Masahide Usami; Masaki Kodaira; Kyota Watanabe; Takeo Yoshikawa; Tomoko Toyota; Shigeru Yokoyama; Toshio Munesue; Ryo Kimura; Yasuko Funabiki; Hirotaka Kosaka; Minyoung Jung; Kiyoto Kasai; Tempei Ikegame; Seiichiro Jinde; Shusuke Numata; Makoto Kinoshita; Tadafumi Kato; Chihiro Kakiuchi; Kazuhiro Yamakawa; Toshimitsu Suzuki; Naoki Hashimoto; Shuhei Ishikawa; Bun Yamagata; Shintaro Nio; Toshiya Murai; Shuraku Son; Yasuto Kunii; Hirooki Yabe; Masumi Inagaki; Yu-ichi Goto; Yuto Okumura; Tomoya Ito; Yuko Arioka; Daisuke Mori; Norio Ozaki

  Biological Psychiatry Elsevier BV 92 (5) 362 - 374 0006-3223 2022/09 [Refereed]
  
• 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 (including Suzuki T); 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 [Refereed]
  
• 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 (including Suzuki T)

  eBioMedicine Elsevier BV 81 104098 - 104098 2352-3964 2022/06 [Refereed]
  
• 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 Cold Spring Harbor Laboratory 12 6505  2022/05 [Refereed]
  
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• 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; Epi25 Collaborative (including Suzuki T)

  EBioMedicine Elsevier BV 72 103588 - 103588 2352-3964 2021/10 [Refereed]
  
• 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. KoelemanC; International League Against; Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative (including Suzuki T)

  Epilepsia Wiley 62 (7) 1518 - 1527 0013-9580 2021/05 [Refereed]
  
• 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 108 (6) 965 - 982 0002-9297 2021/04 [Refereed]
  
• 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 62 (6) 1391 - 1400 0013-9580 2021/04 [Refereed]
  
• 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

  bioRxiv Cold Spring Harbor Laboratory 2021/03
• 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) 22076  2020/12 [Refereed]
  
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• 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) 421 - 421 2020/12 [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; Epi25 Collaborative (including Suzuki T); 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]
  
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• 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) 143 (7) 2106 - 2118 0006-8950 2020/06 [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]
  
• 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) 1917 - 1917 2019/04 [Refereed]
  
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• 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 : EJHG 27 (3) 378 - 383 2019/03 [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 24 (11) 2838 - 2856 2018/09 [Refereed]
  
• Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

  Julia N Bailey; Laurence de Nijs; Dongsheng Bai; Toshimitsu Suzuki (co-first author); 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 2018/03 [Refereed]
  
• Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

  Hiroyuki Miyamoto; Atsushi Shimohata; Manabu Abe; Teruo Abe; Emi Mazaki; Kenji Amano; Toshimitsu Suzuki; Tetsuya Tatsukawa; Shigeyoshi Itohara; Kenji Sakimura; Kazuhiro Yamakawa

  HUMAN MOLECULAR GENETICS 26 (24) 4961 - 4974 0964-6906 2017/12 [Refereed]
  
• EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

  Julia N. Bailey; Christopher Patterson; Laurence de Nijs; Reyna M. Duron; Viet-Huong Nguyen; Miyabi Tanaka; Marco T. Medina; Aurelio Jara-Prado; Iris E. Martinez-Juarez; Adriana Ochoa; Yolli Molina; Toshimitsu Suzuki; Maria E. Alonso; Jenny E. Wight; Yu-Chen Lin; Laura Guilhoto; Elza Marcia Targas Yacubian; Jesus Machado-Salas; Andrea Daga; Kazuhiro Yamakawa; Thierry M. Grisar; Bernard Lakaye; Antonio V. Delgado-Escueta

  GENETICS IN MEDICINE 19 (2) 144 - 156 1098-3600 2017/02 [Refereed]
  
• The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex

  Masoumeh Nozari; Toshimitsu Suzuki; Marcello G. P. Rosa; Kazuhiro Yamakawa; Nafiseh Atapour

  DEVELOPMENTAL PSYCHOBIOLOGY 59 (1) 39 - 47 0012-1630 2017/01 [Refereed]
  
• Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes

  Eain M. Cornford; Shigeyo Hyman; Marcia E. Cornford; Gabriela Chytrova; Jennifer Rhee; Toshimitsu Suzuki; Tetsushi Yamagata; Kazuhiro Yamakawa; Manuel L. Penichet; William M. Pardridge

  JOURNAL OF DRUG TARGETING 24 (1) 58 - 67 1061-186X 2016/01 [Refereed]
  
• Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures

  Naoko H. Tomioka; Hiroki Yasuda; Hiroyuki Miyamoto; Minoru Hatayama; Naoko Morimura; Yoshifumi Matsumoto; Toshimitsu Suzuki; Maya Odagawa; Yuri S. Odaka; Yoshimi Iwayama; Ji Won Um; Jaewon Ko; Yushi Inoue; Sunao Kaneko; Shinichi Hirose; Kazuyuki Yamada; Takeo Yoshikawa; Kazuhiro Yamakawa; Jun Aruga

  Nature Communications 5 (1) 2041-1723 2014/07 [Refereed]
  
• Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody - Nonspecific?

  Kazuhiro Yamakawa; Toshimitsu Suzuki

  EPILEPSY & BEHAVIOR 28 S61 - S62 1525-5050 2013/07 [Refereed]
  
• Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

  Keishi Narita; Hiroko Kozuka-Hata; Yuta Nonami; Hiroko Ao-Kondo; Toshimitsu Suzuki; Hideki Nakamura; Kazuhiro Yamakawa; Masaaki Oyama; Takafumi Inoue; Sen Takeda

  BIOLOGY OPEN 1 (8) 815 - 825 2046-6390 2012/08 [Refereed]
  
• The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death

  Masahiro Katano; Tomohiro Numata; Kripamoy Aguan; Yuji Hara; Shigeki Kiyonaka; Shinichiro Yamamoto; Takafumi Miki; Seishiro Sawamura; Toshimitsu Suzuki; Kazuhiro Yamakawa; Yasuo Mori

  CELL CALCIUM 51 (2) 179 - 185 0143-4160 2012/02 [Refereed]
  
• Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease

  Rajat Puri; Toshimitsu Suzuki; Kazuhiro Yamakawa; Subramaniam Ganesh

  HUMAN MOLECULAR GENETICS 21 (1) 175 - 184 0964-6906 2012/01 [Refereed]
  
• Hyperphosphorylation and Aggregation of Tau in Laforin-deficient Mice, an Animal Model for Lafora Disease

  Rajat Puri; Toshimitsu Suzuki; Kazuhiro Yamakawa; Subramaniam Ganesh

  JOURNAL OF BIOLOGICAL CHEMISTRY 284 (34) 22657 - 22663 0021-9258 2009/08 [Refereed]
  
• DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy

  Dongsheng Bai; Julia N. Bailey; Reyna M. Duron; Maria E. Alonso; Marco T. Medina; Iris E. Martinez-Juarez; Toshimitsu Suzuki; Jesus Machado-Salas; Ricardo Ramos-Ramirez; Miyabi Tanaka; Ramon H. Castro Ortega; Minerva Lopez-Ruiz; Astrid Rasmussen; Adriana Ochoa; Aurelio Jara-Prado; Kazuhiro Yamakawa; Antonio V. Delgado-Escueta

  EPILEPSIA 50 (5) 1184 - 1190 0013-9580 2009/05 [Refereed]
  
• Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

  Toshimitsu Suzuki; Hiroyuki Miyamoto; Takashi Nakahari; Ikuyo Inoue; Takahiro Suemoto; Bin Jiang; Yuki Hirota; Shigeyoshi Itohara; Takaomi C. Saido; Tadaharu Tsumoto; Kazunobu Sawamoto; Takao K. Hensch; Antonio V. Delgado-Escueta; Kazuhiro Yamakawa

  HUMAN MOLECULAR GENETICS 18 (6) 1099 - 1109 0964-6906 2009/03 [Refereed]
  
• 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 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 367 (1) 226 - 233 0006-291X 2008/02 [Refereed]
  
• 若年性ミオクロニーてんかんの分子遺伝学

  Suzuki T; Yamakawa K

  Clinical Neuroscience 26 (1) 25 - 28 2008/01
• Cytogenetic study of the induction mechanism of chromosome-type aberrations by 1-beta-D-arabinofuranosylcytosine

  Koichi Sekizawa; Toshimitsu Suzuki; Kunikazu Kishi

  MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS 619 (1-2) 1 - 8 0027-5107 2007/06 [Refereed]
  
• Mutational analysis of CACNA1G in 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]
  
• Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

  Toshimitsu Suzuki; Antonio V. Delgado-Escueta; Maria E. Alonso; Ryoji Morita; Nami Okamura; Yoshihisa Sugimoto; Dongsheng Bai; Marco T. Medina; Julia N. Bailey; Astrid Rasmussen; Jaime Ramos-Peek; Sergio Cordova; Francisco Rubio-Donnadieu; Adriana Ochoa; Aurelio Jara-Prado; Johji Inazawa; Kazuhiro Yamakawa

  Neuroscience Letters Elsevier BV 405 (1-2) 126 - 131 0304-3940 2006/09 [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 50 (7) 347 - 352 1435-232X 2005/07 [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
• Mutations in EFHC1 cause juvenile myoclonic epilepsy

  T Suzuki; AV Delgado-Escueta; K Aguan; ME Alonso; J Shi; Y Hara; M Nishida; T Numata; MT Medina; T Takeuchi; R Morita; DS Bai; S Ganesh; Y Sugimoto; J Inazawa; JN Bailey; A Ochoa; A Jara-Prado; A Rasmussen; J Ramos-Peek; S Cordova; F Rubio-Donnadieu; Y Inoue; M Osawa; S Kaneko; H Oguni; Y Mori; K Yamakawa

  NATURE GENETICS 36 (8) 842 - 849 1061-4036 2004/08 [Refereed]
  
• The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies

  S Ganesh; N Tsurutani; T Suzuki; Y Hoshii; T Ishihara; AV Delgado-Escueta; K Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 313 (4) 1101 - 1109 0006-291X 2004/01 [Refereed]
  
• Recent Developments in the Quest for Myoclonic Epilepsy Genes

  Antonio V. Delgado-Escueta; Katerina B. Perez-Gosiengfiao; Dongsheng Bai; Julia Bailey; Marco T. Medina; Ryoji Morita; Toshimitsu Suzuki; Subramaniam Ganesh; Toshihisa Sugimoto; Kazuhiro Yamakawa; Adriana Ochoa; A. Jara-Prado; Astrid Rasmussen; J. Ramos-Peek; Sergio Cordova; Francisco Rubio-Donnadieu; Maria Elisa Alonso

  Epilepsia Wiley 44 13 - 26 0013-9580 2003/10 [Refereed]
  
• The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NIfU-like domain

  S Ganesh; N Tsurutani; T Suzuki; K Ueda; KL Agarwala; H Osada; AV Delgado-Escueta; K Yamakawa

  HUMAN MOLECULAR GENETICS 12 (18) 2359 - 2368 0964-6906 2003/09 [Refereed]
  
• Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5

  T Suzuki; R Morita; Y Sugimoto; T Sugawara; DS Bai; ME Alonso; MT Medina; JN Bailey; A Rasmussen; J Ramos-Peek; S Cordova; FR Donnadieu; A Ochoa; A Jara-Prado; J Inazawa; AV Delgado-Escueta; K Yamakawa

  EPILEPSY RESEARCH 50 (3) 265 - 275 0920-1211 2002/08 [Refereed]
  
• Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances

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

  Rev Neurol . 35 (1) 82 - 86 2002/07 [Refereed]
  
• Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

  S Ganesh; A Delgado-Escueta; T Suzuki; S Francheschetti; C Riggio; G Avanzini; A Rabinowicz; S Bohlega; J Bailey; ME Alonso; A Rasmussen; AE Thomson; A Ochoa; AJ Prado; MT Medina; K Yamakawa

  HUMAN MOLECULAR GENETICS 11 (11) 1263 - 1271 0964-6906 2002/05 [Refereed]
  
• Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

  S Ganesh; AV Delgado-Escueta; T Sakamoto; MR Avila; J Machado-Salas; Y Hoshii; T Akagi; H Gomi; T Suzuki; K Amano; KL Agarwala; Y Hasegawa; DS Bai; T Ishihara; T Hashikawa; S Itohara; EM Cornford; H Niki; K Yamakawa

  HUMAN MOLECULAR GENETICS 11 (11) 1251 - 1262 0964-6906 2002/05 [Refereed]
  
• Alternative splicing modulates subcellular localization of laforin

  S Ganesh; T Suzuki; K Yamakawa

  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 291 (5) 1134 - 1137 0006-291X 2002/03 [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 66 (3) 337 - 346 0360-4012 2001/11 [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 288 (3) 626 - 636 0006-291X 2001/11 [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 285 (3) 760 - 772 0006-291X 2001/07 [Refereed]
  
• 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 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 281 (3) 697 - 705 0006-291X 2001/03 [Refereed]
  

MISC

• Identification of responsible genes for temporal lobe epilepsy and investigation of pathological cascade

  Suzuki T; Yamakawa K  第56回日本てんかん学会 (新宿)  2023/10
• Inversed effects of Nav1.2 deficiency at medial prefrontal cortex and ventral tegmental area for prepulse inhibition in acoustic startle response.

  Suzuki T; Yamakawa K  Molecular neurobiology  2023/08
• Pathomechanisms of neurodevelopmental disorders caused by sodium channel gene SCN2A mutations.

  Yamakawa K; Yamagata T; Suzuki T  第65回日本小児神経学会学術集会 (岡山)  2023/05
• 側頭葉てんかん責任遺伝子の同定と発症メカニズムの解明

  鈴木 俊光  名古屋大学脳とこころの研究センター 第7回拡大ワークショップ (Web開催)  2022
• Elimination of EFHC1 in brain ventricle ependymal cells reproduces epileptic phenotypes of systemic deficient mouse.

  Yamakawa K; Suzuki T  第67回 日本人類遺伝学会 (横浜)  2022
• ナトリウムチャネルNav1.1の大脳皮質5層錐体路投射細胞 における発現はドラべ症候群における突然死神経回路を明らかにする

  Kazuhiro Yamakawa; Toshimitsu Suzuki; Tetsushi Yamagata  第45回日本神経科学大会 (沖縄)  2022
• 側頭葉てんかん原因遺伝子同定と発症機構の解明

  Yamakawa K; Suzuki T  日本人類遺伝学会第66回大会 (横浜)  2021
• Juvenile myoclonic epilepsy responsible protein is expressed in cells with motile cilia but not in neurons

  Toshimitsu Suzuki; Ikuo Inoue; Kazuhiro Yamakawa  第54回 日本てんかん学会 (Web開催)  2021
• De Novo Missense and Truncating Variants in ZMYND8 Result in a Distinctive Neurodevelopmental Disorder.

  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 Moorwoo; Matthew N. Bainbridge; Jennifer Friedma; John G. Pappa; Rachel Rabin; Catherine Nowak; Jessica Douglas; Theodore Wilso; Erin Torti; Megan Cho; Edwin P Kirk; Jason Pinner; Matthew Edwards; Arthavan Selvanatha; Francesca Montanari; Claudio Graziano; Tommaso Pippucci; Bri Dingma; Heather C. Meffo; Takeyoshi Shimoji; Toshimitsu Suzuki; Kazuhiro Yamakaw; Haley Stref; Christian P. Schaa; Anne Slavotinek; Irina Voineagu; John C. Carey; Michael Buckley; Annette Schenck; Robert J. Harvey; Tony Roscioli  The American Society of Human Genetics Annual Meeting (Virtual meeting)  2021
• Mice with Scn2a deficiency specifically in striatal medium spiny neurons displayed decreased anxiety and mild impairments of social behavior.

  Suzuki T; Tatsukawa T; Hisatsune C; Miloshiba K; Yamakawa K  第44回日本神経科学大会 (Web開催)  2021
• Myoclonin1 deficiency in ependymal cells increases seizure susceptibility.

  Suzuki T; Yamakawa K  第43回日本神経科学大会 (Web開催)  2020
• 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
• Alteration in a number of GABAergic interneurons in model mouse for juvenile myoclonic epilepsy.

  Suzuki T; Yamakawa K  第60回 日本人類遺伝学会 (新宿)  2015
• Epilepsy gene EFHC1 and calcium homeostasis.

  Suzuki T; Aguan K; Mizuno H; Nakamura T; Mikoshiba K; Miyawaki A; Yamakawa K  第38回日本神経科学大会 (神戸)  2015
• A Novel Gene (Myclonin 3) for Classic Juvenile Myoclonic Epilepsy.

  Bai D; Medina M; Duron R; Bailey J; Alonso M; Suzuki T; Tanaka M; Martinez-Juarez I; Ochoa A; Jara-Prado A; Serratosa J; Yamakawa K; Delgado-Escueta A  American Academy of Neurology 66th Annual Meeting (Philadelphia, PA)  2014
• Role of Elfn1 in hippocampal inhibitory neural circuits containing somatostatin-positive neurons.

  Tomioka N; Miyamoto H; Hatayama M; Morimura N; Matsumoto Y; Suzuki T; Odagawa M; Odaka Y; Iwayama Y; Yamada K; Yoshikawa T; Yamakawa K; Aruga J  第36回 日本神経科学大会 (京都)  2013
• Epilepsy protein myoclonin1 dysfunction causes altered intracellular Ca2+ signaling.

  Suzuki T; Aguan K; Mizuno H; Nakamura T; Inoue I; Mikoshiba K; Miyawaki A; Yamakawa K  Society for Neuroscience. 41st Annual Meeting (Washington DC)  2011
• A Genome-wide association study identifies susceptibility loci for epilepsy.

  Suzuki T; Kubo M; Nakamura Y; Yamakawa K  Nat. Genet.  43-  1108  -1113  2011
• Genome-wide association study to identify susceptibility genes for epilepsy in the Japanese population.

  Yamakawa K; Kubo M; Suzuki T; Nakamura Y  Society for Neuroscience. 41st Annual Meeting (Washington DC)  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
• No visible immunohistochemical abnormality of migrating neurons in Efhc1-deficient mouse.

  Suzuki T; Inoue I; Yamakawa K  Society for Neuroscience. 40th Annual Meeting (San Diego, CA)  2010
• Epilepsies caused by the EFHC1 mutations.

  Suzuki T; Yamakawa K  3rd JES-KES Joint Symposium (Seoul)  2010
• EFHC1, myoclonin1 and epilepsy.

  Yamakawa K; Suzuki T  The 2010 Gordon Conference on Mechanisms of Epilepsy & Neuronal Synchronization (Waterville, ME)  2010
• No histological evidence of abnormal neuronal migration in embryonic brains from Efhc1-deficient mouse.

  Suzuki T; Inoue I; Yamakawa K  第44回 日本てんかん学会 (岡山)  2010
• Epilepsies caused by the EFHC1 mutations.

  Yamakawa K; Suzuki T; Inoue I  第55回 日本人類遺伝学会 (大宮)  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
• 小児欠神てんかん(CAE)から見つかった新規EFHC1変異(A novel EFHC 1 mutation in childhood absence epilepsy (CAE))

  鈴木 俊光; 眞崎 恵美; 井上 育代; 井上 有史; 浜野 晋一郎; 廣瀬 伸一; 小国 弘量; 大澤 眞木子; 高橋 幸利; 森本 昌史  てんかん研究  27-  (2)  328  -328  2009/09
• 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
• A novel EFHC1 mutation in childhood absence epilepsy.

  Suzuki T; Mazaki E; Inoue I; Inoue Y; Hamano S; Hirose S; Oguni H; Osawa M; Takahashi Y; Morimoto M; Yamakawa K  第43回 日本てんかん学会 (弘前)  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
• Mice lacking epilepsy gene, Efhc1, cause spontaneous myoclonus.

  Suzuki T; Miyamoto H; Inoue I; Itohara S; Hensch T; Delgado-Escueta A.V; Yamakawa K  Society for Neuroscience. 38th Annual Meeting (Washington DC)  2008
• Efhc1 mutant mice have frequent spontaneous myoclonus.

  Suzuki T; Miyamoto H; Inoue I; Itohara S; Hensch T; Yamakawa K  第42回 日本てんかん学会 (東京)  2008
• Novel disease-associated mutations of EFHC1 in patients with juvenile myoclonic epilepsy.

  Yamakawa K; Suzuki T; Delgado-Escueta A.V  第53回 日本人類遺伝 (横浜)  2008
• Reduced seizure threshold in Efhc1 deficient mice

  Toshimitsu Suzuki; Ikuyo Inoue; Shigeyoshi Itohara; Kazuhiro Yamakawa  NEUROSCIENCE RESEARCH  61-  S127  -S127  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
• Increased seizure susceptibility and enlarged lateral ventricles in Efhc1 deficient mice, a model of juvenile myoclonic epilepsy.

  Suzuki T; Delgado-Escueta A.V; Inoue I; Itohara S; Suemoto T; Saido T.C; Yamakawa K  Society for Neuroscience. 37th Annual Meeting (San Diego)  2007
• Increased seizure susceptibility in a mouse with Efhc1 deficiency.

  Suzuki T; Delgado-Escueta A.V; Inoue I; Itohara S; Suemoto T; Saido T.C; Yamakawa K  第41回日本てんかん学会 (福岡)  2007
• Transplacental, in utero Gene Delivery to the Fetal Mouse Brain after Intravenous Injection into the Maternal Circulation.

  Cornford E.M; Hyman S; Cornford M.E; Suzuki T; Yamakawa K; Delgado-Escueta A.V  25th International Australasian Winter Conference on Brain Research  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
• 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
• Short isoform of EFHC1 in human and monkey but not in mouse.

  Suzuki T; Delgado-Escueta A.V; Yamakawa K  The 56th Annual Meeting of The American Society of Human Genetics (New Orieans)  2006
• Short isoform of EFHC1 in human and monkey but not in mouse.

  Suzuki T; Delgado-Escueta A.V; Yamakawa K  第40回日本てんかん学会 (金沢)  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
• 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
• New mutations of EFHC1 in juvenile myoclonic epilepsy (JME).

  Suzuki T; Delgado-Escueta A.V; Bai D; Kaneko S; Inoue Y; Yamakawa K  第39回 日本てんかん学会 (旭川)  2005
• An Association Study on Juvenile Myoclonic Epilepsy and EFHC1 Polymorphisms.

  Bai D; Bailey J.N; Alonso M.E; Medina M.T; Martinez-Juarez I; Duron R.M; Tanaka M; Cordova S; Rasmussen A; Ramos-Peek J; Ochoa A; Jara A; Donnadieu F.R; Suzuki T; Yamakawa K; Delgado-Escueta A.V  American Epilepsy Society and American Clinical Neurophysiology Society Joint Annual Meeting. (Washington, DC)  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
• 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  NEUROSCIENCE RESEARCH  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
• A new mutation of EFHC1 associating with juvenile myoclonic epilepsy.

  Suzuki T; Delgado-Escueta A.V; Aguan K; Alonso M.E; Shi J; Medina M.T; Takeuchi T; Bai D; Bailey J; Ochoa A; Jara-Prado A; Rasmussen A; Rubio-Donnadieu F; Yamakawa K  The 54th Annual Meeting of The American Society of Human Genetics (Toronto)  2004
• EFHC1 gene product interacts with Hsp70 and caspase.

  Aguan K; Suzuki T; Delgado-Escueta A.V; Yamakawa K  The 54th Annual Meeting of The American Society of Human Genetics (Toronto)  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
• 若年性ミオクロニーてんかん(JME)責任遺伝子の同定

  Suzuki T; Delgado-Escueta A.V; Aguan K. Jun S; Hara Y; Nishida M; Numata T; Takeuchi T; Bai D; Inoue Y; Oosawa M; Kaneko S; Oguni H; Mori Y; Yamakawa K  弟38回てんかん学会 (静岡)  2004
• haracterization of a novel protein mutated in juvenile myoclonic epilepsy.

  Verlaet M; Suzuki T; Lakaye B; Yamakawa; K; Delgado-Escueta A.V; Grisar T  The American Epilepsy Society, 57th Annual Meeting (Boston)  2003
• Myoclonin/EFHC1 is the epilepsy/EEG-polyspike-wave-causing gene of JME in 6p12.1.

  Delgado-Escueta A.V; Suzuki T; Medina M.T; Alonso M.E; Morita R; Bai D; Inoue Y; Osawa M; Kaneko S; Oguni H; Yamakawa K  The 25th International Epilepsy Congress (TUNIS)  2003
• Juvenile Myoclonic Epilepsy: Mutations and Variants in a Gene That Encodes a Protein with EF-Hand.

  Suzuki T; Delgado-Escueta A.V; Alonso M.E; Morita R; Medina M.T; Ganesh S; Bai D; Sugimoto Y; 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; Yamakawa K  The 55th Annual Meeting of the American Academy of Neurology (Honolulu)  2003
• 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
• 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
• 若年性ミオクローヌスてんかん(JME)責任遺伝子の探索

  Suzuki T; Morita R; Ganesh S; Sugimoto Y; Inazawa J; Delgado-Escueta A.V; Yamakawa K  第36回 日本てんかん学会 (軽井沢)  (36)  135  -135  2002
• Cell death and neuropilee changes in the cerebellum of a KO mouse model of Lafora disease, antedate Lafora bodies accumulation.

  Avila-Costa M.R; Delgado-Escueta A.V; Machado-Salas J; Sakamoto T; Hoshi Y; Akagi T; Gomi H; Suzuki T; Amano K; Agarwala L.K; Hasegawa Y; Bai D; Fortoul T; Rondn A; Hashikawa T; Itohara S; Cornford E.M; Niki H; Yamakawa K  Society for Neuroscience, 32nd Annual Meeting (Orlando, FL)  2002
• 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
• 若年性ミオクローヌスてんかん(JME)の候補遺伝子(EJM1)の探索および解析

  Suzuki T; Morita R; Sugimoto Y; Yamakawa K; Inazawa J; Bai D; Delgado-Escueta A.V  日本人類遺伝学会 第46回大会 (埼玉)  2001
• 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同定、解析

  Suzuki T; Morita R; Sugimoto Y; Bai D; Delgado-Escueta A.V; Yamakawa K  第35回 日本てんかん学会 (東京)  19-  54  -54  2001
• 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

  Tsurutani N; Ganesh S; Amano K. Suzuki T; Delgado-Escueta A.V; Yamakawa K  第35回 日本てんかん学会 (東京)  (35)  188  -188  2001
• ラフォラ型進行性ミオクローヌスてんかん原因遺伝子EPM2Aがコードするラフォーリン蛋白の解析

  Ganesh S. Agarwala K.L; Akagi T; Amano K; Suzuki T; Hashikawa T; Delgado-Escueta A.V; Yamakawa K  第24回 日本神経科学大会(京都)  2001
• DSCAMサブファミリーメンバー (DSCAML1)のクローニング及び機能解析

  Amano K; Agarwala K.L; Ganesh S; Tsutsumi Y; Suzuki T; Yamakawa K  第24回 日本神経科学大会(京都)  2001
• ラットDSCAMホモログの単離及び発現解析

  Amano K; Agarwala K.L; Tsutsumi Y; Suzuki T; Yamakawa K  日本人類遺伝学会 第46回大会 (埼玉)  2001
• 遺伝的連鎖解析による若年性ミオクローヌスてんかん病因遺伝子候補領域の同定

  Morita R; Sugimoto Y; Suzuki T; Bai DS; Delgado-Escueta AV; Yamakawa K  第23回 日本神経科学大会・第10回 日本神経回路学会合同大会(横浜)  2000
• 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

  Morita R; Sugimoto Y; Suzuki T; Bai D; Delgado-Escueta A.V; Yamakawa K  第34回 日本てんかん学会 (東京)  (34)  140  -140  2000
• 特発性全般てんかん家系による遺伝的連鎖解析と候補遺伝子の探索

  Morita R; Sugimoto Y; Suzuki T; Yamakawa K; Inazawa J; Bai D; Delgado-Escueta A.V  日本人類遺伝学会 第45回大会 (福岡)  2000
• Mouse homologue of Down Syndrome Cell Adhesion Molecule gene: A highly conserved gene specifically expressed in brain.

  Agarwala KL; Amano K; Suzuki T; Ganesh S; Yamaguchi K; Yamakawa K  23rd Annual Meeting of Japanese Society of Molecular Biology  2000
• Mouse homologue of Down syndrome cell adhesion molecule gene Dscam shows brain specific expression

  Agarwala KL; Amano K; Suzuki T; Ganesh S; Yamaguchi K; Yamakawa K  第23回 日本神経科学大会・第10回 日本神経回路学会合同大会  2000

Industrial Property Rights

• 特願14/951407 (出願国: US):てんかんの診断および治療のための組成物ならびに方法  

  山川 和弘, 鈴木 俊光, アントニオVデルガドエスクエタ, マルコチューリオメテディナフェルナンデス, マリアエリーサアロンソ ビラテラ
• 特願12/914844 (出願国: US):てんかんの診断および治療のための組成物ならびに方法  

  山川 和弘, 鈴木 俊光, アントニオVデルガドエスクエタ, マルコチューリオメテディナフェルナンデス, マリアエリーサアロンソ ビラテラ

Research Grants & Projects

• SCN2A遺伝子変異による精神・神経疾患発症神経回路の解明

  日本学術振興会：科学研究費助成事業

  Date (from‐to) : 2025/04 -2028/03 

  Author : 鈴木 俊光
• SCN2A遺伝子変異による社会性行動障害に関わる神経回路の解明

  日本学術振興会：

  Date (from‐to) : 2022/04 -2025/03 

  Author : 鈴木 俊光
• SCN2A遺伝子欠損による皮質－側坐核神経回路の異常を介した社会性行動障害の解明

  Hori Sciences and Arts Foundation：研究助成

  Date (from‐to) : 2022/04 -2023/03 

  Author : 鈴木 俊光
• Elucidating the pathology of epilepsy caused by EFHC1 and CILK1 variants

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

  Date (from‐to) : 2019/04 -2022/03 

  Author : Suzuki Toshimitsu

   

  To understand the pathological mechanism for juvenile myoclonic epilepsy (JME) caused by EFHC1 and CILK1 variants, we investigated whether Efhc1 knockout (Efhc1-KO) mice show increased seizure susceptibility to isoflurane, which has been reported in Cilk1-KO mice. We also carried out the cell counting of inhibitory interneurons in striatum of both Efhc1- and Cilk1-KO mice. Furthermore, we found that myoclonin1, which is encoded by Efhc1, is expressed only in cells with motile cilia but not in neurons in mouse brain or mitotic apparatuses such as mitotic spindle and midbody in dividing cultured cells including mouse neurosphere cells and human embryonic kidney (HEK) cells. We further found that the complete elimination of myoclonin1 in homozygous Efhc1-KO mouse did not critically affect cell division and migration of neurons in cerebral cortex. These results indicate that EFHC1 and CILK1 variant-dependent JME is a motile ciliopathy.
• Elucidating the pathology of epilepsy caused by EFHC1 mutations

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

  Date (from‐to) : 2016/04 -2019/03 

  Author : Suzuki Toshimitsu

   

  To select the serotype of Adeno-Associated Virus (AAV), which efficiently infect to ependymal cells lining the wall of ventricles in mouse brain, we injected several serotypes of AAV into the ventricles of brain at several stages of mouse age. We found one of serotype of AAV infected to ependymal cells with high efficiency. We performed quantitative proteomic analysis of iTRAQ labeling samples derived from medial ganglionic eminence (MGE) of Efhc1-deficient heterozygous and WT mice at embryonic stage. Regarding of the investigation using DREADD system, we are obtaining the results of susceptibility to drug-induced seizure in mice. We also performed drug-induced seizure susceptibility test on myoclonin1 dysfunction mice by interfering the interaction of myoclonin1 interact protein. Although the mouse number was not enough to get conclusion so far, we found the myoclonin1 dysfunction mice tended to increase in seizure susceptibility.
• Efhc1コンディショナルノックアウトマウスを用いたてんかん発症機序の解明

  Japan Society for the Promotion of Science：Grant-in-Aid for Scientific Research (C)

  Date (from‐to) : 2012/04 -2015/03 

  Author : Toshimitsu Suzuki
• EFHC1変異による小胞体カルシウム貯蔵量の調節を介したてんかん発症機序の解明

  Japan Society for the Promotion of Science：Grant-in-Aid for Young Scientists(B)

  Date (from‐to) : 2010/04 -2012/03 

  Author : Toshimitsu Suzuki
• てんかん原因遺伝子EFHC1遺伝子がコードするタンパク

  The Japan Epilepsy Research Foundation：Grant-in-Aid

  Date (from‐to) : 2010/04 -2011/03 

  Author : Toshimitsu Suzuki
• Efhc1遺伝子改変マウスを用いた若年性ミオクロニーてんかん発症機序の解明

  Japan Society for the Promotion of Science：Grant-in-Aid for Young Scientists(B)

  Date (from‐to) : 2008/04 -2010/03 

  Author : Toshimitsu Suzuki
• Characterization of EFHC1 and Understand the Pathology of Juvenile Myoclonic Epilepsy (JME)

  RIKEN：RIKEN Special Postdoctoral Researchers Program

  Date (from‐to) : 2006/04 -2008/03 

  Author : Toshimitsu Suzuki
• 若年性ミオクローヌスてんかん新規原因遺伝子の機能解析

  Japan Society for the Promotion of Science：Grant-in-Aid for Young Scientists(B)

  Date (from‐to) : 2004/04 -2006/03 

  Author : Toshimitsu Suzuki

Other link

researchmap

https://researchmap.jp/toshi0415