Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

ABSTRACT: The K(+) channel expressed by the KCNJ10 gene (Kir4.1) has previously demonstrated importance in retinal function in animal experiments. Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, ataxia, sensorineural deafne...

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Detalhes bibliográficos
Main Authors: Thompson, Dorothy A, Feather, Sally, Stanescu, Horia C, Freudenthal, Bernard, Zdebik, Anselm A, Warth, Richard, Ognjanovic, Milos, Hulton, Sally A, Wassmer, Evangeline, van't Hoff, William, Russell-Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert, Bockenhauer, Detlef
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Science Inc 2011
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3099023/
https://ncbi.nlm.nih.gov/pubmed/21300747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2010.198531
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