A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern

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...

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Bibliographic Details
Published inJournal of child neurology Vol. 29; no. 2; p. 249
Main Authors Romaniello, Romina, Zucca, Claudio, Tenderini, Erika, Arrigoni, Filippo, Ragona, Francesca, Zorzi, Giovanna, Bassi, Maria Teresa, Borgatti, Renato
Format Journal Article
LanguageEnglish
Published United States 01.02.2014
Subjects
Amino Acid Sequence
Anticonvulsants - therapeutic use
Brain - drug effects
Brain - physiopathology
Child, Preschool
Electroencephalography
Humans
Infant
Male
Molecular Sequence Data
Munc18 Proteins - chemistry
Munc18 Proteins - genetics
Mutation, Missense
Point Mutation
Seizures - drug therapy
Seizures - genetics
Seizures - physiopathology
Sequence Alignment
Spasms, Infantile - drug therapy
Spasms, Infantile - genetics
Spasms, Infantile - physiopathology
Treatment Outcome
Vigabatrin - therapeutic use
epilepsy
Ohtahara syndrome
vigabatrin therapy
epileptic encephalopathy
STXBP1 gene
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Summary: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.
ISSN:1708-8283
DOI:10.1177/0883073813506936