title: Acute encephalopathy in a patient with Dravet syndrome.
abstract: Dravet syndrome (severe myoclonic epilepsy in infancy) is an epileptic syndrome with various types of seizures that begin in the first year of life and may result in intellectual impairment. Mutations of the SCN1A gene are the most prevalent genetic cause of Dravet syndrome. In this study, we report a 12-year-old girl with Dravet syndrome carrying an SCN1A mutation, c.2785Cdel (L929del fsX934). She had an episode of status epilepticus and persistent lethargy after 48 h of acute febrile illness that was preceded by an annual flu vaccination. Low voltage activities detected by electroencephalogram and elevated neuron-specific enolase/interleukin-6 concentrations in the cerebrospinal fluid suggested acute encephalopathy. MRI showed abnormalities in the bilateral thalami, cerebellum and brainstem. These abnormalities were protracted over a month. The biochemical and MRI characteristics of this case are different from any known type of encephalopathy, and may suggest a vulnerability of neurons expressing mutant SCN1A in the brain.
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Tsuji
authors.forename: E
authors.initials: E
authors.lastname: Mazaki
authors.forename: I
authors.initials: I
authors.lastname: Ogiwara
authors.forename: T
authors.initials: T
authors.lastname: Wada
authors.forename: M
authors.initials: M
authors.lastname: Iai
authors.forename: A
authors.initials: A
authors.lastname: Okumura
authors.forename: S
authors.initials: S
authors.lastname: Yamashita
authors.forename: K
authors.initials: K
authors.lastname: Yamakawa
authors.forename: H
authors.initials: H
authors.lastname: Osaka
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000473:pathology; D001927:Brain Diseases / Q000150:complications*; D002648:Child; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels