De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

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

doi:10.1002/ana.21625

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

Published in Annals of Neurology • Mar 19, 2009

Authors:

Fadi F. Hamdan

Amélie Piton

Julie Gauthier

Abstract

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; spli...

Subject

Exon

Genetics

Nonsense mutation

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