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Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse

De novo mutations of neuronal sodium channels are responsible for ~5% of developmental and epileptic encephalopathies, but the role of somatic mutation of these genes in adult-onset epilepsy is not known. We evaluated the role of post-zygotic somatic mutation by adult activation of a conditional all...

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Publicado en:Hum Mol Genet
Autores principales: Yu, Wenxi, Smolen, Corrine E, Hill, Sophie F, Meisler, Miriam H
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2021
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8165645/
https://ncbi.nlm.nih.gov/pubmed/33822038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab092
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