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Published in 2022 at "eLife"
DOI: 10.7554/elife.77953
Abstract: 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…
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Keywords:
channel properties;
severity three;
mice;
three kcnma1 ... See more keywords