Myoclonus epilepsy and ataxia due to <scp><i>KCNC</i></scp><i>1</i> mutation: Analysis of 20 cases and <scp>K</scp>⁺ channel properties

Abstract

MEAK has a relatively homogeneous presentation, resembling Unverricht-Lundborg disease, despite the genetic and biological basis being quite different. A remarkable improvement with fever may be explained by the temperature-dependent leftward shift in activation of wild-type K_V 3.1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689.