Loss-of-function variants of SCN8A in intellectual disability without seizures

OBJECTIVE: To determine the functional effect of SCN8A missense mutations in 2 children with intellectual disability and developmental delay but no seizures. METHODS: Genomic DNA was analyzed by next-generation sequencing. SCN8A variants were introduced into the Na(v)1.6 complementary DNA by site-di...

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Detalles Bibliográficos
Autores principales: Wagnon, Jacy L., Barker, Bryan S., Ottolini, Matteo, Park, Young, Volkheimer, Alicia, Valdez, Purnima, Swinkels, Marielle E.M., Patel, Manoj K., Meisler, Miriam H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499976/
https://www.ncbi.nlm.nih.gov/pubmed/28702509
http://dx.doi.org/10.1212/NXG.0000000000000170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499976/
https://www.ncbi.nlm.nih.gov/pubmed/28702509
http://dx.doi.org/10.1212/NXG.0000000000000170

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