Search Results - "Roache, Cooper E"
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1
BK channel properties correlate with neurobehavioral severity in three KCNMA1 -linked channelopathy mouse models
Published in eLife (12-07-2022)“…KCNMA1 forms the pore of BK K channels, which regulate neuronal and muscle excitability. Recently, genetic screening identified heterozygous variants in a…”
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Journal Article -
2
Disease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models
Published in The Journal of general physiology (06-11-2023)“…KCNMA1 encodes the voltage- and calcium-activated K+ (BK) channel, which regulates suprachiasmatic nucleus (SCN) neuronal firing and circadian behavioral…”
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Journal Article -
3
Evaluation of Motor Function in Mouse Models of KCNMA1-Linked Channelopathy
Published 01-01-2021“…KCNMA1-linked channelopathy is a rare neuromuscular disease associated with patient phenotypes of paroxysmal non-kinesigenic dyskinesia (PNKD). The N999S and…”
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Dissertation