Article
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Disease models & mechanisms - 1 May 2013
Mahmood Fahad, Mozere Monika, Zdebik Anselm A, Stanescu Horia C, Tobin Jonathan, Beales Philip L, Kleta Robert, Bockenhauer Detlef, Russell Claire
Abstract excerpt
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 with seizures in infancy. A Kcnj10 knockout mouse shows postnatal mortality and is therefore not suitable for drug discovery....
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