SCN8A mutation in a child presenting with seizures and developmental delays

The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially e...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Malcolmson, Janet, Kleyner, Robert, Tegay, David, Adams, Whit, Ward, Kenneth, Coppinger, Justine, Nelson, Lesa, Meisler, Miriam H., Wang, Kai, Robison, Reid, Lyon, Gholson J.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5111007/
https://ncbi.nlm.nih.gov/pubmed/27900360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001073
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