Articles with "kcnc1 mutation" as a keyword



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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

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Published in 2017 at "Annals of Neurology"

DOI: 10.1002/ana.24929

Abstract: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. read more here.

Keywords: ataxia due; myoclonus epilepsy; kcnc1 mutation; epilepsy ataxia ... See more keywords