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...

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Main Authors: Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Format: Artigo
Language:Inglês
Published: The Company of Biologists Limited 2013
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Research Article
Online Access: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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