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

• প্রধান লেখক: Fahad Mahmood (লেখক), Monika Mozere (লেখক), Anselm A. Zdebik (লেখক), Horia C. Stanescu (লেখক), Jonathan Tobin (লেখক), Philip L. Beales (লেখক), Robert Kleta (লেখক), Detlef Bockenhauer (লেখক), Claire Russell (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: The Company of Biologists, 2013-05-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...