Article

BK channel properties correlate with neurobehavioral severity in three <i>KCNMA1</i> -linked channelopathy mouse models

2022-02-16

Abstract excerpt

<h4>ABSTRACT</h4> KCNMA1 forms the pore of BK K + channels, which regulate neuronal and muscle excitability. Recently, genetic screening identified heterozygous KCNMA1 variants in a subset of patients with debilitating paroxysmal non-kinesigenic dyskinesia, presenting with or without epilepsy (PNKD3). However, the relevance of KCNMA1 mutations and the basis for clinical heterogeneity in PNKD3 has not been esta...

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Literature Corpus work: 968f823d-e672-5008-819c-838471cc060d
DOI: 10.1101/2022.02.15.478992

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