Article
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
The Journal of physiology - 1 Apr 2011
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
Abstract excerpt
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 deafness and a renal tubulopathy designated as EAST syndrome. We have studied the impact of KCNJ10 mutations on the human...
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