Dravet syndrome

Term ID

DOID:0080422

Synonyms

• DEE6
• DEE6A
• developmental and epileptic encephalopathy 6
• developmental and epileptic encephalopathy 6A
• early infantile epileptic encephalopathy 6
• severe myoclonic epilepsy of infancy

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. (3)

References

• GARD:10430
• MIM:607208
• ORDO:33069

Ontology

Human Disease   ( DOID:0080422 )