title: Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
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.
authors.affiliation: 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.
authors.forename: Giulia
authors.initials: G
authors.lastname: Barcia
authors.affiliation: 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.
authors.forename: Nicole
authors.initials: N
authors.lastname: Chemaly
authors.affiliation: Department of Genetics, Inserm U781, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Gobin
authors.affiliation: APHM, CINAPSE, Pediatric Neurology Department, Timone Children Hospital, Marseille, France.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Milh
authors.affiliation: Department of Pediatric Neurology, Hôpital Erasme, Bruxelles, Belgium.
authors.forename: Patrick
authors.initials: P
authors.lastname: Van Bogaert
authors.affiliation: Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Barnerias
authors.affiliation: 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.
authors.forename: Anna
authors.initials: A
authors.lastname: Kaminska
authors.affiliation: 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.
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.affiliation: Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Department of Genetics, Inserm U781, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
authors.forename: Valerie
authors.initials: V
authors.lastname: Cormier
authors.affiliation: Department of Pediatric Radiology, Hopital Necker Enfants Malades, APHP, Paris, Descartes University, Paris, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.affiliation: Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address: rima.nabbout@nck.aphp.fr.
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
mesh_terms: D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005625:Frontal Lobe / Q000503:physiopathology; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D051938:Munc18 Proteins; C497937:STXBP1 protein, human
keywords: Epileptic encephalopathies; Infantile spasms; MUNC18.1; STXBP1