Article
Intellectual disability without epilepsy associated with STXBP1 disruption.
European journal of human genetics : EJHG - 1 May 2011
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
Abstract excerpt
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-onset epilepsy. In addition, sequencing of the coding region of STXBP1 in 95 patients with non-syndromic...
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