GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
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ABSTRACT:
SUBMITTER: Carvill GL
PROVIDER: S-EPMC4001207 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Publications
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill Gemma L GL Weckhuysen Sarah S McMahon Jacinta M JM Hartmann Corinna C Møller Rikke S RS Hjalgrim Helle H Cook Joseph J Geraghty Eileen E O'Roak Brian J BJ Petrou Steve S Clarke Alison A Gill Deepak D Sadleir Lynette G LG Muhle Hiltrud H von Spiczak Sarah S Nikanorova Marina M Hodgson Bree L BL Gazina Elena V EV Suls Arvid A Shendure Jay J Dibbens Leanne M LM De Jonghe Peter P Helbig Ingo I Berkovic Samuel F SF Scheffer Ingrid E IE Mefford Heather C HC
Neurology 20140312 14
<h4>Objective</h4>To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing.<h4>Methods</h4>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.<h4>Results</h4>We detected disease-causing mutations in 2 novel genes for Dravet syndrome, with mutations in GABRA1 in 4 cases and STXBP1 in 3. Furthermore, we identified ...[more]
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