Intellectual disability without epilepsy associated with STXBP1 disruption

STXBP1 (Munc18-1) is a component of the machinery involved in the fusion of secretory vesicles to the presynaptic membrane for the release of neurotransmitters. De novo missense mutations in STXBP1 were recently reported in patients with Ohtahara syndrome, a form of encephalopathy with severe early-...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hamdan, Fadi F, Gauthier, Julie, Dobrzeniecka, Sylvia, Lortie, Anne, Mottron, Laurent, Vanasse, Michel, D'Anjou, Guy, Lacaille, Jean Claude, Rouleau, Guy A, Michaud, Jacques L
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083607/
https://ncbi.nlm.nih.gov/pubmed/21364700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.183
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados