Dravet syndrome
Findings
No curated finding names Dravet syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100135), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Febrile seizure (within the age range of 3 months to 6 years)MondoHP:0002373
Genes
6 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN1AHGNC:10585
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- GABRA1HGNC:4075
- Supportive · Orphanet · Autosomal dominant · 2021
- GABRG2HGNC:4087
- Supportive · Orphanet · Autosomal dominant · 2021
- PCDH19HGNC:14270
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN1BHGNC:10586
- · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Dravet syndrome
- Also called
- DravetDSmyoclonic epilepsy, severe, of infancysevere myoclonic epilepsy of infancySMESMEB