BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models

Abstract excerpt

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 established. Here, we...

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