Portal de Periódicos da CAPES

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

2021; Elsevier BV; Volume: 108; Issue: 10 Linguagem: Inglês

10.1016/j.ajhg.2021.08.008

1537-6605

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea 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, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. 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 Sadoway, Heinz Krestel, André Schaller, Savvas 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, Fritz 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 M. Boßelmann, Josua Kegele, Christian Hengsbach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Ingo Borggräfe, Christoph J. Schankin, Susanne Schubert‐Bast, Herbert Schreiber, Patrick May, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna‐Elina Lehesjoki, Sylvain Rheims, Gaëtan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartoloméi, Édouard Hirsch, Véronique Michel, Francine Chassoux, Mark I. Rees, Seo‐Kyung Chung, William Owen 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 Baum, Pak C. Sham, Stacey S. Cherny, Colin Hiu Tung 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, Ida 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 K. Zgheib, Birutė Tumienė, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Çağlayan, Mutluay Arslan, Zühal Yapıcı, Pınar Topaloğlu, Bülent Kara, Uluç Yiş, Dilşad Türkdoğan, Aslı Gündoğdu-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 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 C. Schachter, Ruben Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan M. Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidiswaran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein,

RNA modifications and cancer

(The American Journal of Human Genetics 108, 965–982; June 3, 2021) In the original version of this paper, the following authors were omitted from the list of Epi25 Collaborative consortium members: Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, and Çiğdem Özkara. The consortium member list has been corrected online, and the supplemental information has been corrected to include these individuals’ affiliations. The authors apologize for this omission. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individualsMotelow et al.The American Journal of Human GeneticsApril 30, 2021In BriefBoth mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Full-Text PDF Open Archive