Open AccessKCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16
Author(s) -
Sophie Parrock,
Sofia Hussain,
Naomi Issler,
Ann-Marie Differ,
Nicholas Lench,
Stefano Guarino,
Michiel J.S. Oosterveld,
Mandy G. Keijzer-Veen,
Eva H. Brilstra,
Hester van Wieringen,
Antoinette Y. Konijnenberg,
Sarah Amin-Rasip,
Simona Dumitriu,
Enriko Klootwijk,
Nine V A M Knoers,
Detlef Böckenhauer,
Robert Kleta,
Anselm A. Zdebik
Publication year - 2013
Publication title -
nephron. physiology
Language(s) - English
Resource type - Journals
ISSN - 1660-2137
DOI - 10.1159/000356353
Subject(s) - microbiology and biotechnology , endocrinology , mutation , medicine , biology , xenopus , chemistry , gene , genetics
Mutations in the inwardly-rectifying K(+)-channel KCNJ10/Kir4.1 cause autosomal recessive EAST syndrome (epilepsy, ataxia, sensorineural deafness and tubulopathy). KCNJ10 is expressed in the distal convoluted tubule of the kidney, stria vascularis of the inner ear and brain glial cells. Patients diagnosed clinically with EAST syndrome were genotyped and mutations in KCNJ10 were studied functionally.