GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

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...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2014
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4001207/
https://ncbi.nlm.nih.gov/pubmed/24623842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000291
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