KEGG   DISEASE: Dravet syndromeHelp
Entry
H01818                      Disease                                

Name
Dravet syndrome
  Supergrp
Symptomatic generalized epilepsies [DS:H00577]
Febrile seizures [DS:H00783]
Description
The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H01818  Dravet syndrome
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H01818  Dravet syndrome
BRITE hierarchy
Pathway
hsa04728  Dopaminergic synapse
Gene
SCN1A [HSA:6323] [KO:K04833]
Drug
Stiripentol [DR:D05928]
Comment
See also H00606 Early infantile epileptic encephalopathy.
Other DBs
ICD-11: 8A61.11
ICD-10: G40.4
MeSH: D004831
OMIM: 607208
Reference
  Authors
Dravet C
  Title
The core Dravet syndrome phenotype.
  Journal
Epilepsia 52 Suppl 2:3-9 (2011)
DOI:10.1111/j.1528-1167.2011.02994.x
Reference
  Authors
Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC
  Title
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
  Journal
J Med Genet 47:137-41 (2010)
DOI:10.1136/jmg.2008.065912
Reference
PMID:18424028 (drug)
  Authors
Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K
  Title
Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan.
  Journal
Brain Dev 30:629-35 (2008)
DOI:10.1016/j.braindev.2008.03.002

» Japanese version

DBGET integrated database retrieval system