Article
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Nephron. Physiology - 1 Jan 2013
Parrock Sophie, Hussain Sofia, Issler Naomi, Differ Ann-Marie, Lench Nicholas, Guarino Stefano, Oosterveld Michiel J S, Keijzer-Veen Mandy, Brilstra Eva, van Wieringen Hester, Konijnenberg A Yvette, Amin-Rasip Sarah, Dumitriu Simona, Klootwijk Enriko, Knoers Nine, Bockenhauer Detlef, Kleta Robert, Zdebik Anselm A
Abstract excerpt
BACKGROUND/AIMS: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.