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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
التنسيق: Artigo
اللغة:Inglês
منشور في: The Company of Biologists Limited 2013
الموضوعات:
Research Article
الوصول للمادة أونلاين: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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