title: Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.forename: Kitami
authors.initials: K
authors.lastname: Hayashi
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Awaya
authors.forename: Yukio
authors.initials: Y
authors.lastname: Fukuyama
authors.forename: Goryu
authors.initials: G
authors.lastname: Fukuma
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Akihisa
authors.initials: A
authors.lastname: Mitsudome
authors.forename: Sunao
authors.initials: S
authors.lastname: Kaneko
mesh_terms: D001831:Body Temperature / Q000502:physiology; D015331:Cohort Studies; D004569:Electroencephalography / Q000145:classification / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D020195:Epilepsy, Reflex / Q000503:physiopathology; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology / Q000208:ethnology; D008297:Male; D001523:Mental Disorders / Q000503:physiopathology; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels