title: Acute encephalopathy with a novel point mutation in the SCN2A gene.
abstract: Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. To validate the involvement of SCN2A mutations in acute encephalopathy, we screened 25 patients and found a novel missense mutation (Met1128Thr) in a patient with acute encephalitis with refractory, repetitive partial seizures (AERRPS). This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy.
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Shikatacho 2-5-1, Okayama 700-8558, Japan.
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Hiroki
authors.initials: H
authors.lastname: Ohzono
authors.forename: Mayu
authors.initials: M
authors.lastname: Shinohara
authors.forename: Makiko
authors.initials: M
authors.lastname: Saitoh
authors.forename: Iori
authors.initials: I
authors.lastname: Ohmori
authors.forename: Yoko
authors.initials: Y
authors.lastname: Ohtsuka
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
mesh_terms: D000208:Acute Disease; D000328:Adult; D000595:Amino Acid Sequence; D001927:Brain Diseases / Q000235:genetics*; D004828:Epilepsies, Partial / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary; D013226:Status Epilepticus / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human