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Dravet syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0100135

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/0000-0001-5208-3432 https://orcid.org/0000-0001-7090-9648 https://orcid.org/0000-0002-6601-2165 ]

Synonyms: Dravet syndrome DS

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C116573 (MONDO:equivalentTo)
  • UMLS:C0751122 (NCIT:C116573)
  • DOID:0080422 (MONDO:equivalentTo)
  • DOID:0060171 (MONDO:equivalentObsolete)
  • ICD9:345.10 (MONDO:relatedTo)
  • SCTID:230437002 (MONDO:equivalentTo)
  • NORD:1061 (MONDO:NORD)
Subsets

rare, nord_rare, clingen

comment

This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://purl.obolibrary.org/obo/DOID_0080422

http://purl.obolibrary.org/obo/NCIT_C116573

http://linkedlifedata.com/resource/umls/id/C0751122

http://identifiers.org/snomedct/230437002

has related synonym

myoclonic epilepsy, severe, of infancy

SME

id

MONDO:0100135

seeAlso

https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome

https://search.clinicalgenome.org/kb/conditions/MONDO:0100135

Term relations