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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Lippincott Williams & Wilkins 2014
נושאים:
Article
גישה מקוונת: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
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים