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Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
De novo mutations of the voltage-gated sodium channel gene SCN8A have recently been recognized as a cause of epileptic encephalopathy, which is characterized by refractory seizures with developmental delay and cognitive disability. We previously described the heterozygous SCN8A missense mutation p.A...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4275076/ https://ncbi.nlm.nih.gov/pubmed/25227913 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu470 |
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