Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

外显子组测序癫痫神经科学外显子组生物遗传学医学突变基因

作者

Siwei Chen,Bassel 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 Bartoloméi,Nicholas Bass,Larry Baum,Tobias Baumgartner,Betül Baykan,Nerses Bebek,Felicitas Becker,Caitlin A. Bennett,Ahmad Beydoun,Claudia Bianchini,Francesca Bisulli,Douglas Blackwood,Ilan Blatt,Ingo Borggraefe,Christian Boßelmann,Vera Braatz,Harrison Brand,Knut Brockmann,Russell J. Buono,Robert Powell,S. Hande Çağlayan,Laura Canafoglia,Christina Canavati,Barbara Castellotti,Gianpiero L. Cavalleri,Felecia Cerrato,Francine Chassoux,Christina Cherian,Stacey S. Cherny,Ching‐Lung Cheung,I‐Ching 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 Dlugos,Viola Doccini,Colin P. Doherty,Hany El‐Naggar,Colin A. Ellis,Leon G. Epstein,Mary C. Evans,Annika Faucon,Yen‐Chen Anne Feng,Lisa Ferguson,Thomas N. Ferraro,I. Silva,Lorenzo Ferri,Martha Feucht,Madeline Fields,Mark P. Fitzgerald,Beata Fonferko‐Shadrach,Francesco Fortunato,Silvana Franceschetti,Jacqueline A. French,Elena Freri,Jack Fu,Stacey Gabriel,Monica Gagliardi,Antonio Gambardella,Laura D. Gauthier,Tania Giangregorio,Tommaso Gili,Tracy A. Glauser,Ethan M. Goldberg,Alica M. Goldman,David B. Goldstein,Tiziana Granata,Riley Grant,David A. Greenberg,Stéphanie Baulac,Aslı Gündoğdu-Eken,Namrata Gupta,Kevin R. Haas,Hákon Hákonarson,Garen Haryanyan,Martin Häusler,Manu Hegde,Erin L. Heinzen,Ingo Helbig,Christian Hengsbach,Henrike Heyne,Shinichi Hirose,Édouard Hirsch,Chen-Jui Ho,Olivia Hoeper,Daniel P. Howrigan,Donald Hucks,Phạm Văn Hưng,Michele Iacomino,Yushi Inoue,Luciana Midori Inuzuka,Atsushi Ishii,Lara Jehi,Michael R. Johnson,Mandy Johnstone,Reetta Kälviäinen,Moien Kanaan,Bülent Kara,Symon M. Kariuki,Josua Kegele,Yeşim Kesim,Nathalie K. 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 Kuzniecky,Patrick Kwan,Maite La Vega‐Talbott,Angelo Labate,L.G. Austin,Dennis Lal,Petra Laššuthová,Stephan Lauxmann,Charlotte Lawthom,Stephanie L. Leech,Anna‐Elina Lehesjoki,Johannes R. Lemke,Antonio Gambardella,Gaétan Lesca,Costin Leu,Naomi Lewin,David B. Goldstein,Gloria Hoi‐Yee Li,Calwing Liao,Laura Licchetta,Chih-Hsiang Lin,Kuang-Lin Lin,Tarja Linnankivi,Warren Lo,Daniel H. Lowenstein,Chelsea Lowther,Laura S. Lubbers,Colin H. T. Lui,Lúcia 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 L. McArdle,S. M. McCarroll,Patricia E. McGoldrick,Christopher M. McGraw,Andrew M. McIntosh,A. McQuillan,Kimford J. Meador,Davide Mei,Véronique Michel,J Gordon Millichap,Raffaella Minardi,Martino Montomoli,Barbara Mostacci,Lorenzo Muccioli,Hiltrud Muhle,Karen Müller‐Schlüter,Imad Najm,Wassim Nasreddine,Samuel Neaves,Bernd A. Neubauer,Charles R. Newton,Jeffrey L. Noebels,Kate Northstone,Sam Novod,Terence J. O’Brien,Seth Owusu‐Agyei,Çiğdem Özkara,Aarno Palotie,Savvas Papacostas,Elena Parrini,Carlos N. Pato,Michele T. Pato,Manuela Pendziwiat,Page B. Pennell,Slavé Petrovski,William Owen Pickrell,Rebecca Pinsky,Dalila Pinto,Christel Depienne,Fabrizio Piras,Federica Piras,Annapurna Poduri,Federica Pondrelli,Daniëlle Posthuma,Robert Powell,Michael Privitera,Annika Rademacher,Francesca Ragona,Byron Ramirez-Hamouz,Sarah Rau,Hillary Raynes,Mark I. Rees,Brigid M. Regan,Andreas Reif,Eva M. Reinthaler,Sylvain Rheims,Susan M. Ring,Antonella Riva,Enrique Rojas,Felix Rosenow,Philippe Ryvlin,Anni Saarela,Lynette G. Sadleir,Barış Salman,A Salmon,Vincenzo Salpietro,Ilaria Sammarra,Marcello Scala,Steven C. 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,Dan J. Stein,Kathryn 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,Ritu Taneja,George A. Tanteles,Oskari Timonen,Nicholas J. Timpson,Paolo Tinuper,Marian Todaro,Pınar Topaloğlu,Meng‐Han Tsai,Birutė Tumienė,Dilşad Türkdoğan,Sibel Uğur‐İşeri,Algirdas Utkus,Priya Vaidiswaran,Luc Valton,Andreas van Baalen,Maria Stella Vari,Annalisa Vetro,Markéta Vlčková,Sophie von Brauchitsch,Sarah Weckhuysen,Ryan G. Wagner,Nick Watts,Yvonne G. Weber,Sarah Weckhuysen,Peter De Jonghe,Samuel Wiebe,Steven M. Wolf,Markus Wolff,Stefan Wolking,Isaac Wong,Randi von Wrede,David Wu,Kazuhiro Yamakawa,Zühal Yapıcı,Uluç Yiş,Robert H. Yolken,Emrah Yücesan,Sara Zagaglia,Felix Zahnert,José M. Serratosa,Fritz Zimprich,Milena Zizovic,Gábor Zsurka,Benjamin M. Neale,Samuel F. Berkovic

出处

期刊：Nature Neuroscience [Springer Nature]
日期：2024-10-03

链接

nih.govdoi.org

标识

DOI：10.1038/s41593-024-01747-8

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

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