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Dravet syndrome

Disease Summary
Associated Targets (13)
Tbio

8

Tclin

5


GARD Rare
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0100135:  Dravet syndrome
DOID:0060171: 
GARD:0010430: 
NCIT:C116573: 
SCTID:230437002: 
UMLS:C0751122: