title: A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
abstract: Mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and in other early-onset epileptic encephalopathies. A 3-year-old boy affected by epileptic encephalopathy started at 8 months of age is described. Focal epilepsy was characterized by drug resistance seizures with multifocal interictal and ictal electroencephalographic (EEG) features and variable EEG focus. Direct sequencing of the STXBP1 gene showed a novel de novo mutation (c.751G>A), leading to a p.Ala251Thr substitution. Based on reported data, treatment with vigabatrin was attempted and patient became immediately seizure free for 4 months. The present case further expands the clinical spectrum of "STXBP1-related encephalopathy" suggesting molecular analysis of STXBP1 in early onset epileptic encephalopathies of unknown etiology (with onset within the first year of life). In addition, the case provides valuable suggestions on seizures treatment in STXBP1 mutated subjects.
authors.affiliation: 1Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
authors.forename: Romina
authors.initials: R
authors.lastname: Romaniello
authors.forename: Claudio
authors.initials: C
authors.lastname: Zucca
authors.forename: Erika
authors.initials: E
authors.lastname: Tenderini
authors.forename: Filippo
authors.initials: F
authors.lastname: Arrigoni
authors.forename: Francesca
authors.initials: F
authors.lastname: Ragona
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
authors.forename: Renato
authors.initials: R
authors.lastname: Borgatti
mesh_terms: D000595:Amino Acid Sequence; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000187:drug effects / Q000503:physiopathology*; D002675:Child, Preschool; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D051938:Munc18 Proteins / Q000737:chemistry / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D012640:Seizures / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D016415:Sequence Alignment; D013036:Spasms, Infantile / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D016896:Treatment Outcome; D020888:Vigabatrin / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D051938:Munc18 Proteins; C497937:STXBP1 protein, human; D020888:Vigabatrin
keywords:   STXBP1 gene; Ohtahara syndrome; epilepsy; epileptic encephalopathy; vigabatrin therapy