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

• Main Authors: Fahad Mahmood (Author), Monika Mozere (Author), Anselm A. Zdebik (Author), Horia C. Stanescu (Author), Jonathan Tobin (Author), Philip L. Beales (Author), Robert Kleta (Author), Detlef Bockenhauer (Author), Claire Russell (Author)
• Format: Book
• Published: The Company of Biologists, 2013-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...