Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

• Những tác giả chính: Fahad Mahmood (Tác giả), Monika Mozere (Tác giả), Anselm A. Zdebik (Tác giả), Horia C. Stanescu (Tác giả), Jonathan Tobin (Tác giả), Philip L. Beales (Tác giả), Robert Kleta (Tác giả), Detlef Bockenhauer (Tác giả), Claire Russell (Tác giả)
• Định dạng: Sách
• Được phát hành: The Company of Biologists, 2013-05-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

SUMMARY Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent w...