myoclonic-atonic epilepsy

Term ID

DOID:0060475

Synonyms

• childhood onset epileptic encephalopathy
• EEOC

Definition

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (3)

References

• MIM:616421

Ontology

Human Disease   ( DOID:0060475 )