Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

作者：Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark Thomas Mackay, Victoria Rodriguez‐Casero, Richard Webste Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke Steensbjerre Møller, Deepak S. Gill, Danielle Molinari Andrade, Jeremy L. Freeman, Lynette Grant Sadleir, Jay Shendure, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Heather C. Mefford · 发表于：Nature Genetics · 年份：2013 · DOI：10.1038/ng.2646 · 被引用次数：707 · 研究领域：Genomics and Rare Diseases、Epilepsy research and treatment、Genetics and Neurodevelopmental Disorders