Atsushi Ishii - Fukuoka University, Fukuoka University

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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, 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

medRxiv the preprint server for health sciences（2024）

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Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review