Channelpedia

PubMed 21221631


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kir1.1 , Kir4.1



Title: The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Authors: Sascha Bandulik, Katharina Schmidt, Detlef Bockenhauer, Anselm A Zdebik, Evelyn Humberg, Robert Kleta, Richard Warth, Markus Reichold

Journal, date & volume: Pflugers Arch., 2011 Apr , 461, 423-35

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21221631


Abstract
Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal salt-wasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule.