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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2014
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller