title: Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.
abstract: The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene. The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients. The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life.
authors.affiliation: Pediatric Neurology Department, Hospital Pediátrico Integrado, Centro Hospitalar São João, Porto, Portugal mafaldansampaio@gmail.com.
authors.forename: Mafalda
authors.initials: M
authors.lastname: Sampaio
authors.affiliation: Pediatric Neurology Department, Hospital Pediátrico Integrado, Centro Hospitalar São João, Porto, Portugal.
authors.forename: Ruben
authors.initials: R
authors.lastname: Rocha
authors.affiliation: Center for Genomics and Transcriptomics (CeGaT), Tubingen, Germany.
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.affiliation: Pediatric Neurology Department, Hospital Pediátrico Integrado, Centro Hospitalar São João, Porto, Portugal Genetics Department, Faculdade de Medicina da Universidade do Porto, Portugal.
authors.forename: Miguel
authors.initials: M
authors.lastname: Leão
mesh_terms: D058540:Aicardi Syndrome / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D006801:Humans; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D051938:Munc18 Proteins; C497937:STXBP1 protein, human
keywords: Early infantile epileptic encephalopathy; STXBP1; early-onset