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Summary Literature (0)
DOID:0060475 - myoclonic-atonic epilepsy

Disease Ontology 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.

Synonyms: childhood onset epileptic encephalopathy, EEOC

Xenbase Genes : chd2, slc6a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014150 - developmental and epileptic encephalopathy 94


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), idiopathic generalized epilepsy (is_a)