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

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 g...

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Publicat a:J Neurophysiol
Autors principals: Moldenhauer, Hans J., Matychak, Katia K., Meredith, Andrea L.
Format: Artigo
Idioma:Inglês
Publicat: American Physiological Society 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052641/
https://ncbi.nlm.nih.gov/pubmed/31851553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/jn.00626.2019
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