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Dissecting the phenotypes of Dravet syndrome by gene deletion

Neurological and psychiatric syndromes often have multiple disease traits, yet it is unknown how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the voltage-gated sodium channel Na(v)1.1 causes Dravet syndrome, an intractable childhood-onset epilepsy with hyperactivity...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Rubinstein, Moran, Han, Sung, Tai, Chao, Westenbroek, Ruth E., Hunker, Avery, Scheuer, Todd, Catterall, William A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5022661/
https://ncbi.nlm.nih.gov/pubmed/26017580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv142
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