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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A., Stanescu, Horia C., Tobin, Jonathan, Beales, Philip L., Kleta, Robert, Bockenhauer, Detlef, Russell, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634649/
https://www.ncbi.nlm.nih.gov/pubmed/23471908
http://dx.doi.org/10.1242/dmm.009480

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634649/
https://www.ncbi.nlm.nih.gov/pubmed/23471908
http://dx.doi.org/10.1242/dmm.009480

Ejemplares similares