JOURNAL ARTICLE

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

Giulia Barcia, Nicole Chemaly, Stephanie Gobin, Mathieu Milh, Patrick Van Bogaert, Christine Barnerias, Anna Kaminska, Olivier Dulac, Isabelle Desguerre, Valerie Cormier, Nathalie Boddaert, Rima Nabbout
European Journal of Medical Genetics 2014, 57 (1): 15-20
24189369
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, 1 male) with early onset epileptic encephalopathies associated with STXBP1 mutations. We documented a peculiar brain MRI aspect characterized by frontal hypoplasia and a thin and dysmorphic corpus callosum. The course of the epilepsy was relatively benign. These clinical and neuroradiological features could orient the clinician in selecting patients' candidate to genetic testing for STXBP1 gene.

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