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Human Disease

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
Ontology
Human Disease   ( DOID:0080422 )
Relationships
is a type of
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Genes Involved
Zebrafish Models