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Article

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

European journal of medical genetics - 1 Jan 2014

Barcia Giulia, Chemaly Nicole, Gobin Stephanie, Milh Mathieu, Van Bogaert Patrick, Barnerias Christine, Kaminska Anna, Dulac Olivier, Desguerre Isabelle, Cormier Valerie, Boddaert Nathalie, Nabbout Rima

Abstract excerpt

STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, is a gene causing epileptic encephalopathy. Mutations in STXBP1 have first been reported in early onset epileptic encephalopathy with suppression-bursts, then in infantile spasms and, more recently, in patients with non syndromic mental retardation without epilepsy. We analyzed clinical evolution and brain magnetic resonance imaging in 7 patients (6 females,...

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Source

Identifiers

PMID: 24189369
DOI: 10.1016/j.ejmg.2013.10.006

Genes

STXBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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