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Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening
A de novo mutation in the KCND2 gene, which encodes the Kv4.2 K(+) channel, was identified in twin boys with intractable, infant-onset epilepsy and autism. Kv4.2 channels undergo closed-state inactivation (CSI), a mechanism by which channels inactivate without opening during subthreshold depolarizat...
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| Publié dans: | Proc Natl Acad Sci U S A |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
National Academy of Sciences
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5899440/ https://ncbi.nlm.nih.gov/pubmed/29581270 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1717082115 |
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