myoclonic-atonic epilepsy (DOID:0060475)
Alliance: disease page
Synonyms: childhood onset epileptic encephalopathy; EEOC
Alt IDs: OMIM:616421
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.