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The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype
Sodium-activated potassium (K(Na)) channels contribute to firing frequency adaptation and slow afterhyperpolarization. The KCNT1 gene (also known as SLACK) encodes a K(Na) subunit that is expressed throughout the central and peripheral nervous systems. Missense mutations of the SLACK C-terminus have...
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| Publicado no: | Neuroscience |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5479566/ https://ncbi.nlm.nih.gov/pubmed/28366665 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuroscience.2017.03.035 |
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