Mutations in SCN3A cause early infantile epileptic encephalopathy

OBJECTIVE: Voltage-gated sodium (Na(+)) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na(+) channel pore-forming (α) subunits Nav1.1, 1.2, and 1...

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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Neurol
Auteurs principaux: Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.
Format: Artigo
Langue:Inglês
Publié: 2018
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5912987/
https://ncbi.nlm.nih.gov/pubmed/29466837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25188
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