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

著者: Epi25 Collaborative, 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, Nick Bass, Larry 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 M. Boßelmann, Vera Braatz, Harrison Brand, Knut Brockmann, Russell J. Buono, Robyn M. Busch, 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‐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 Dlugos, Viola Doccini, Colin P. Doherty, Hany El-Naggar, Colin A. Ellis, Leon G. Epstein, Meghan Evans, Annika Faucon, Yen‐Chen Anne Feng, Lisa Ferguson, Thomas N. Ferraro, Izabela Ferreira Da 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, Renzo Guerrini, Aslı Gündoğdu-Eken, Namrata Gupta, Kevin Haas, Håkon Håkonarson, 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, Po-Chen Hung, 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, Austin Lacey, Dennis Lal, Petra Laššuthová, Stephan Lauxmann, Charlotte Lawthom, Stephanie L. Leech, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Gaëtan 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 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, Tommaso Pippucci, 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, Andrea 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, 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, R. Taneja, George A. Tanteles, Oskari Timonen, Nicholas J. Timpson, Paolo Tinuper, Marian Todaro, Pınar Topaloğlu, Meng‐Han Tsai, Biruté Tumiene, 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 von Spiczak, Ryan G. Wagner, Nick Watts, Yvonne Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, 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, Federico Zara, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic - Nature Neuroscience 2024 被引用: 56