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-...

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Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2011
Fag:
Short Report
Online adgang: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
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