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Article

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Annals of neurology - 1 Jun 2009

Hamdan Fadi F, Piton Amélie, Gauthier Julie, Lortie Anne, Dubeau François, Dobrzeniecka Sylvia, Spiegelman Dan, Noreau Anne, Pellerin Stéphanie, Côté Mélanie, Henrion Edouard, Fombonne Eric, Mottron Laurent, Marineau Claude, Drapeau Pierre, Lafrenière Ronald G, Lacaille Jean Claude, Rouleau Guy A, Michaud Jacques L

Abstract excerpt

We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. Reverse transcriptase...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19557857
DOI: 10.1002/ana.21625

Genes

STXBP1
SNAP25
SYT1
VAMP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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