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Metadata
ID DOID:0080422
Name Dravet syndrome
Definition A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
https://pubmed.ncbi.nlm.nih.gov/27544470/, https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/11359211
Xrefs

GARD:10430

OMIM:607208

ORDO:33069

Alternateids

DOID:0060171

Subsets

DO_FlyBase_slim

Synonyms

DEE6 [EXACT]

developmental and epileptic encephalopathy 6 [EXACT]

early infantile epileptic encephalopathy 6 [EXACT]

severe myoclonic epilepsy of infancy [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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