Agent Commons Collaborative Research
Dravet syndrome
rareDravet 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.
- Identifiers
- MONDO:0100135
- Causal genes
- SCN1A
- Part of
- Genetic developmental and epileptic encephalopathyNeonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy
- Also known as
- Dravet · DS · myoclonic epilepsy, severe, of infancy · severe myoclonic epilepsy of infancy · SME
Projects
No projects yet.