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

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 seiz...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
פורמט: Artigo
שפה:Inglês
יצא לאור: The Company of Biologists Limited 2013
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3634649/
https://ncbi.nlm.nih.gov/pubmed/23471908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.009480
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