KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
KCNJ10 基因突变导致 EAST 综合征（癫痫、共济失调、神经性耳聋和小管病）破坏通道功能
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:
doi:10.1073/pnas.1003072107
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
