title: A case of recurrent encephalopathy with SCN2A missense mutation.
abstract: Voltage-gated sodium channels regulate neuronal excitability, as well as survival and the patterning of neuronal connectivity during development. Mutations in SCN2A, which encodes the Na(+) channel Nav1.2, cause epilepsy syndromes and predispose children to acute encephalopathy. Here, we report the case of a young male with recurrent acute encephalopathy who carried a novel missense mutation in the SCN2A gene. He was born by normal delivery and developed repetitive apneic episodes at 2days of age. Diffusion-weighted imaging revealed high-intensity areas in diffuse subcortical white matter, bilateral thalami, and basal nuclei. His symptoms improved gradually without any specific treatment, but he exhibited a motor milestone delay after the episode. At the age of 10months, he developed acute cerebellopathy associated with a respiratory syncytial viral infection. He received high-dose intravenous gammaglobulin and methylprednisolone pulse therapy and seemed to have no obvious sequelae after the episode. He then developed severe diffuse encephalopathy associated with gastroenteritis at the age of 14months. He received high-dose intravenous gammaglobulin and methylprednisolone pulse therapy but was left with severe neurological sequelae. PCR-based analysis revealed a novel de novo missense mutation, c.4979T>G (p.Leu1660Trp), in the SCN2A gene. This case suggests that SCN2A mutations might predispose children to repetitive encephalopathy with variable clinical and imaging findings.
authors.affiliation: Department of Pediatrics, Anjo Kosei Hospital, Aichi, Japan. Electronic address: fukasawa@kosei.anjo.aichi.jp.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fukasawa
authors.affiliation: Department of Pediatrics, Anjo Kosei Hospital, Aichi, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kubota
authors.affiliation: Department of Pediatrics, Anjo Kosei Hospital, Aichi, Japan.
authors.forename: Tamiko
authors.initials: T
authors.lastname: Negoro
authors.affiliation: Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Saitoh
authors.affiliation: Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
authors.affiliation: Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Ihara
authors.affiliation: Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ishii
authors.affiliation: Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D012008:Recurrence
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human
keywords: Encephalopathy; Mutation; SCN2A