title: STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
abstract: We performed STXBP1 mutation analyses in 86 patients with various types of epilepsies, including 10 patients with OS, 43 with West syndrome, 2 with Lennox-Gastaut syndrome, 12 with symptomatic generalized epilepsy, 14 with symptomatic partial epilepsy, and 5 with other undetermined types of epilepsy. In all patients, the etiology was unknown, but ARX and CDKL5 mutations were negative in all cases. All coding exons of STXBP1 were analyzed by direct-sequencing. Two de novo nucleotide alterations of STXBP1 were identified in two patients with Ohtahara and West syndrome, respectively. No de novo or deleterious mutations in STXBP1 were found in the remaining 84 patients with various types of symptomatic epilepsies. This is the first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy. STXBP1 analysis should be considered as an etiology of symptomatic West syndrome without explainable cause.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.
authors.forename: Motoko
authors.initials: M
authors.lastname: Otsuka
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.forename: Jao-Shwann
authors.initials: JS
authors.lastname: Liang
authors.forename: Hiroko
authors.initials: H
authors.lastname: Ikeda
authors.forename: Katsumi
authors.initials: K
authors.lastname: Imai
authors.forename: Kyoko
authors.initials: K
authors.lastname: Hirasawa
authors.forename: Kaoru
authors.initials: K
authors.lastname: Imai
authors.forename: Emiko
authors.initials: E
authors.lastname: Tachikawa
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D015331:Cohort Studies; D005260:Female; D057895:Haploinsufficiency / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D065768:Lennox Gastaut Syndrome; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*
chemical_list: D051938:Munc18 Proteins; C497937:STXBP1 protein, human