Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Nature Genetics
Carvill, Gemma L GL; Heavin, Sinéad B SB; Yendle, Simone C SC; McMahon, Jacinta M JM; O'Roak, Brian J BJ; Cook, Joseph J; Khan, Adiba A; Dorschner, Michael O MO; Weaver, Molly M; Calvert, Sophie S; Malone, Stephen S; Wallace, Geoffrey G; Stanley, Thorsten T; Bye, Ann M E AM; Bleasel, Andrew A; Howell, Katherine B KB; Kivity, Sara S; Mackay, Mark T MT; Rodriguez-Casero, Victoria V; Webster, Richard R; Korczyn, Amos A; Afawi, Zaid Z; Zelnick, Nathanel N; Lerman-Sagie, Tally T; Lev, Dorit D; Møller, Rikke S RS; Gill, Deepak D; Andrade, Danielle M DM; Freeman, Jeremy L JL; Sadleir, Lynette G LG; Shendure, Jay J; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Mefford, Heather C HC
Publication Date: 2013-07
Variant appearance in text: SCN1A: 4836delC; Ile1613Phefs*5