title: Acute encephalopathy in children with Dravet syndrome.
abstract: OBJECTIVE
  The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome.
  
  
  METHODS
  Through the mailing list of the Annual Zao Conference on Pediatric Neurology, we collected 15 patients with clinically diagnosed Dravet syndrome, who had acute encephalopathy, defined as a condition with decreased consciousness with or without other neurologic symptoms, such as seizures, lasting for >24 h in association with infectious symptoms.
  
  
  RESULTS
  There were seven boys and eight girls. A mutation of the SCN1A gene was present in nine (truncation in six and missense in three). The frequency of seizures during the 3 months before the onset of acute encephalopathy was monthly in seven children and none in three. The median age at the onset of acute encephalopathy was 44 months (range 8-184 months). All children had status epilepticus followed by coma as the initial manifestation. Two different distributions of brain lesions were observed on diffusion-weighted images during the acute phase: cerebral cortex-dominant lesions with or without deep gray matter involvement and subcortical-dominant lesions. Four children died; nine survived with severe sequelae, and two had moderate sequelae.
  
  
  CONCLUSIONS
  We must be aware that acute encephalopathy is an important complication in children with Dravet syndrome, and associated with fulminant clinical manifestations and a poor outcome.
authors.affiliation: Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan. okumura@juntendo.ac.jp
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.forename: George
authors.initials: G
authors.lastname: Imataka
authors.forename: Manabu
authors.initials: M
authors.lastname: Tanaka
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kubota
authors.forename: Akira
authors.initials: A
authors.lastname: Sudo
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
authors.forename: Megumi
authors.initials: M
authors.lastname: Tsuji
authors.forename: Iori
authors.initials: I
authors.lastname: Ohmori
authors.forename: Misako
authors.initials: M
authors.lastname: Naiki
authors.forename: Ayako
authors.initials: A
authors.lastname: Hiraiwa-Sofue
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sato
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D000208:Acute Disease; D002540:Cerebral Cortex / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D065768:Lennox Gastaut Syndrome; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012640:Seizures / Q000150:complications* / Q000235:genetics / Q000473:pathology; D015222:Sodium Channels / Q000235:genetics*; D013036:Spasms, Infantile / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels