De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

BACKGROUND: SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important role in psychiatric disorders. Recently, de novo SCN2A mutations in autism spect...

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Autors principals: Tavassoli, Teresa, Kolevzon, Alexander, Wang, A Ting, Curchack-Lichtin, Jocelyn, Halpern, Danielle, Schwartz, Lily, Soffes, Sarah, Bush, Lauren, Grodberg, David, Cai, Guiqing, Buxbaum, Joseph D
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3994485/
https://ncbi.nlm.nih.gov/pubmed/24650168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-35
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