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- Title
KCNJ10 mutations disrupt function in patients with EAST syndrome.
- Authors
Freudenthal, Bernard; Kulaveerasingam, Duvaraka; Lingappa, Lokesh; Shah, Mehul A; Brueton, Louise; Wassmer, Evangeline; Ognjanovic, Milos; Dorison, Nathalie; Reichold, Markus; Bockenhauer, Detlef; Kleta, Robert; Zdebik, Anselm A
- Abstract
Mutations in the inwardly-rectifying K+ channel KCNJ10/Kir4.1 cause an autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and tubulopathy (EAST syndrome). KCNJ10 is expressed in the kidney distal convoluted tubule, cochlear stria vascularis and brain glial cells. Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10.
- Publication
Nephron. Physiology, 2011, Vol 119, Issue 3, pp40
- ISSN
1660-2137
- Publication type
Journal Article
- DOI
10.1159/000330250