Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. [ https://orcid.org/0000-0001-7090-9648 https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6601-2165 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060171 (MONDO:equivalentObsolete)
  • ICD9:345.10 (MONDO:relatedTo)
  • UMLS:C0751122 (NCIT:C116573)
  • DOID:0080422 (MONDO:equivalentTo)
  • NCIT:C116573 (MONDO:equivalentTo)
  • SCTID:230437002 (MONDO:equivalentTo)
  • GARD:0010430 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
SME [ GARD : 0010430 ]
abbreviation
DS [ Orphanet : 33069 ]
comment
  • This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
created by
  • https://orcid.org/0000-0001-5208-3432
definition
  • Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.
exactMatch
  • http://identifiers.org/snomedct/230437002
  • http://purl.obolibrary.org/obo/NCIT_C116573
  • http://purl.obolibrary.org/obo/DOID_0080422
  • http://linkedlifedata.com/resource/umls/id/C0751122
has exact synonym
  • Dravet syndrome
  • DS
has related synonym
  • myoclonic epilepsy, severe, of infancy
  • SME
id
  • MONDO:0100135
seeAlso
  • https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome