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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Lisa-Marie Niestroj Orcid Logo, Eduardo Perez-Palma, Daniel P Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus Orcid Logo, Peter Nürnberg, Remi Stevelink, Mark J Daly, Aarno Palotie, Dennis Lal, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Dennis Lal, Claire Churchhouse, Namrata Gupta, Benjamin M Neale, Samuel F Berkovic, Holger Lerche, David B Goldstein, Daniel H Lowenstein, Gianpiero L Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J Dlugos, Ingrid E Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M Regan, Susannah T Bellows, Costin Leu, Brigid M Regan, Caitlin A Bennett, Susannah T Bellows, Esther C Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J O’Brien, Patrick Kwan, Slavé Petrovski, Marian Todaro, Sarah Weckhuysen, Hannah Stamberger, Peter De Jonghe, Chantal Depondt, Danielle M Andrade, Tara R Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S Papacostas, Ioanna Kousiappa, George A Tanteles, Katalin Šterbová, Markéta Vlcková, Lucie Sedlácková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S Reif, Susanne Knake, Wolfram S Kunz, Gábor Zsurka, Christian E Elger, Jürgen Bauer, Michael Rademacher, 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, Christian Hengsbach, Sarah Rau, Ana F Maisch, Bernhard J Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I Rees, Seo-Kyung Chung, William O Pickrell, Robert Powell, Sanjay M Sisodiya, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Anthony G Marson, Michael R Johnson, Pauls Auce, Graeme J Sills, Patrick Kwan, Larry W Baum, Pak C Sham, Stacey S Cherny, Colin H T Lui, Nina Barišic, Gianpiero L Cavalleri, Norman Delanty, Colin P Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Pasquale Striano, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Lorenzo Muccioli, 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, Birute Tumiene, Ruta Mameniskiene, Algirdas Utkus, Ruta Praninskiene, Jurgita Grikiniene, Ruta Samaitiene, Lynette G Sadleir, Chontelle King, Emily Mountier, S Hande Caglayan, Mutluay Arslan, Zuhal Yapici, Uluc Yis, Pinar Topaloglu, Bulent Kara, Dilsad Turkdogan, Asli Gundogdu-Eken, Nerses Bebek, Sibel Ugur-Iseri, Betül Baykan, Baris Salman, Garen Haryanyan, Emrah Yücesan, Yesim Kesim, Çigdem Özkara, Beth R Sheidley, Catherine Shain, Annapurna Poduri, Russell J Buono, Thomas N Ferraro, Michael R Sperling, Dennis J Dlugos, Warren Lo, Michael Privitera, Jacqueline A French, Patrick Cossette, Steven Schachter, Hakon Hakonarson, Ruben I Kuzniecky, Dennis J Dlugos, Orrin Devinsky, Ruben I Kuzniecky, Jacqueline A French, Manu Hegde, Pouya Khankhanian, Katherine L Helbig, Colin A Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, (the Epi25 Collaborative)

Brain, Volume: 143, Issue: 7, Pages: 2106 - 2118

Swansea University Author: Robert Powell

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DOI (Published version): 10.1093/brain/awaa171

Published in: Brain
ISSN: 0006-8950 1460-2156
Published: Oxford University Press (OUP) 2020
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa60622
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Keywords: copy number variation, epilepsy, genetic generalized epilepsy, developmental and epileptic encephalopathy, focal epilepsy
College: Faculty of Medicine, Health and Life Sciences
Funders: This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (PIs: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan).
Issue: 7
Start Page: 2106
End Page: 2118