title: Dravet syndrome with an exceptionally good seizure outcome in two adolescents.
abstract: We present two children who exhibited the characteristics of Dravet syndrome during infancy and young childhood, with SCN1A mutation, but nevertheless achieved seizure freedom for at least four years during adolescence. These patients had no episodes of convulsive status epilepticus with a duration of more than 30 minutes and their overall favourable seizure outcome may be related to the prevention of convulsive status epilepticus.
authors.affiliation: Department of Child Neurology, Okayama University Hospital, Okayama, Japan. k_koba@md.okayama-u.ac.jp
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Iori
authors.initials: I
authors.lastname: Ohmori
authors.forename: Mamoru
authors.initials: M
authors.lastname: Ouchida
authors.forename: Yoko
authors.initials: Y
authors.lastname: Ohtsuka
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002675:Child, Preschool; D004359:Drug Therapy, Combination; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000188:drug therapy* / Q000235:genetics / Q000523:psychology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000523:psychology; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D003294:Seizures, Febrile / Q000188:drug therapy* / Q000209:etiology* / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome; D016896:Treatment Outcome; D014888:Wechsler Scales
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels