Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

作者：Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine C. Tashman, Felecia E. Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire L. Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hakon H. Hakonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris J. Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony Guy Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid Eileen Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah S Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence John O'Brien, Marian Todaro, Hannah Stamberger, Danielle Molinari Andrade, Tara R. Sadoway, Kelly Mo, Heinz E. Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp Sebastian Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian Erich Elger, Jürgen M. Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien N Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Josef 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 Jochen Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe, Christoph Josef Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta K. Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna‐Elina Lehesjoki, Mark I. Rees, Seo‐Kyung Chung, William Owen Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme John Sills, Larry Baum, Pak Chung Sham, Stacey Shawn Cherny, Colin H. T. Lui, Nina Barišić, Norman Delanty, Colin P. Doherty, Arif Ali 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, Biruté Tumiene, Lynette Grant Sadleir, Chontelle King, Emily I. Mountier, Server Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Uluç Yiş, Pınar Topaloğlu, Bülent Kara, Dilşad Türkdoğan, Aslı Gündoğdu-Eken, Nerses Bebek, Sibel Uğur‐İşeri, Betül B. Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna H. Poduri, Beth R. Shiedley, Catherine Shain, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren David Lo, Michael Privitera, Jacqueline A. French, Steven C. Schachter, Ruben 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, Nicholas Bass, Andrew Mark McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno V. Palotie, Michele T. Pato, Carlos N. Pato, Evelyn J. Bromet, Célia 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, P.F. Buckley, Fabio M. Macciardi, Mark Hyman Rapaport, James A. Knowles, Ayman H. Fanous, Steven A. McCarroll, Namrata Gupta, Stacey L. Gabriel, Mark J. Daly, Eric S. Lander, Daniel H. Lowenstein, David B. Goldstein, Holger Lerche, Samuel Frank Berkovic, Benjamin M. Neale · 发表于：The American Journal of Human Genetics · 年份：2019 · DOI：10.1016/j.ajhg.2019.05.020 · 被引用次数：310 · 研究领域：Genetics and Neurodevelopmental Disorders、Genomics and Rare Diseases、Epilepsy research and treatment