Referenced in: none

Automatically associated channels: Kir1.1 , Kir4.1 , Kir5.1

Title: KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.

Authors: Markus Reichold, Anselm A Zdebik, Evelyn Lieberer, Markus Rapedius, Katharina Schmidt, Sascha Bandulik, Christina Sterner, Ines Tegtmeier, David Penton, Thomas Baukrowitz, Sally-Anne Hulton, Ralph Witzgall, Bruria Ben-Zeev, Alexander J Howie, Robert Kleta, Detlef Bockenhauer, Richard Warth

Journal, date & volume: Proc. Natl. Acad. Sci. U.S.A., 2010 Aug 10 , 107, 14490-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20651251

Abstract