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

doi:10.1016/j.ejmg.2013.10.006

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

Eur J Med Genet. 2014 Jan;57(1):15-20. doi: 10.1016/j.ejmg.2013.10.006. Epub 2013 Nov 1.

Authors

Affiliations

¹ Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France; Inserm U663, University Paris Descartes, PRES Sorbonne Paris Cité, Paris F-75005; CEA, Neurospin, 91190 Gif/Yvette, France.
² Department of Genetics, Inserm U781, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
³ APHM, CINAPSE, Pediatric Neurology Department, Timone Children Hospital, Marseille, France.
⁴ Department of Pediatric Neurology, Hôpital Erasme, Bruxelles, Belgium.
⁵ Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
⁶ Department of Pediatric Radiology, Hopital Necker Enfants Malades, APHP, Paris, Descartes University, Paris, France.
⁷ Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address: [email protected].

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

Abstract

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.

Keywords: Epileptic encephalopathies; Infantile spasms; MUNC18.1; STXBP1.

MeSH terms

Child, Preschool
Corpus Callosum / pathology
DNA Mutational Analysis
Female
Frontal Lobe / physiopathology
Genetic Association Studies
Humans
Infant
Infant, Newborn
Male
Munc18 Proteins / genetics*
Mutation
Phenotype
Spasms, Infantile / genetics*
Spasms, Infantile / pathology
Spasms, Infantile / physiopathology

Substances

Munc18 Proteins
STXBP1 protein, human