Article
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
European journal of human genetics : EJHG - 1 Feb 2018
Li Xia, Poschmann Sibylle, Chen Qiuyun, Fazeli Walid, Oundjian Nelly Jouayed, Snoeijen-Schouwenaars Francesca M, Fricke Oliver, Kamsteeg Erik-Jan, Willemsen Marjolein, Wang Qing Kenneth
Abstract excerpt
Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))-encoding the BK channel-that causes epilepsy, but not paroxysmal dyskinesia, in two independent families. The c.2984 A > G (p.(N995S)) variant markedly increased the macroscopic potassium current by increasing both the channel open...
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