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Article

Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties

18 Dec 2019

Abstract excerpt

KCNMA1, encoding the voltage- and calcium-activated potassium channel, has a pivotal role in brain physiology. Mutations in KCNMA1 are associated with epilepsy and/or dyskinesia (PNKD3). Two KCNMA1 mutations correlated with these phenotypes, D434G and N999S, were previously identified as producing gain-of-function (GOF) effects on BK channel activity. Three new patients have been reported harboring N999S, one...

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PMID: 31851553
DOI: 10.1152/jn.00626.2019

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