Article
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Neurology - 8 Apr 2014
Carvill Gemma L, Weckhuysen Sarah, McMahon Jacinta M, Hartmann Corinna, Møller Rikke S, Hjalgrim Helle, Cook Joseph, Geraghty Eileen, O'Roak Brian J, Petrou Steve, Clarke Alison, Gill Deepak, Sadleir Lynette G, Muhle Hiltrud, von Spiczak Sarah, Nikanorova Marina, Hodgson Bree L, Gazina Elena V, Suls Arvid, Shendure Jay, Dibbens Leanne M, De Jonghe Peter, Helbig Ingo, Berkovic Samuel F, Scheffer Ingrid E, Mefford Heather C
Abstract excerpt
OBJECTIVE: To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing. METHODS: We performed whole-exome sequencing in 13 SCN1A-negative patients with Dravet syndrome and targeted resequencing in 67 additional patients to identify new genes for this disorder. RESULTS: We detected disease-causing mutations in 2 novel genes for Dravet syndrome, with mutations...
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