Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Abstract

Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. Our findings indicate that KCNJ10 plays a major role in renal salt handling and, hence, possibly also in blood-pressure maintenance and its regulation.