Ontology highlight
ABSTRACT:
SUBMITTER: Hamdan FF
PROVIDER: S-EPMC3083607 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Hamdan Fadi F FF Gauthier Julie J Dobrzeniecka Sylvia S Lortie Anne A Mottron Laurent L Vanasse Michel M D'Anjou Guy G Lacaille Jean Claude JC Rouleau Guy A GA Michaud Jacques L JL
European journal of human genetics : EJHG 20110302 5
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 intellectual disability (NSID) revealed de novo truncating mutations in two patients who also s ...[more]