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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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American Physiological Society
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052641/ https://www.ncbi.nlm.nih.gov/pubmed/31851553 http://dx.doi.org/10.1152/jn.00626.2019 |