myoclonic-atonic epilepsy

Summary

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: EEOC, childhood onset epileptic encephalopathy,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: chd2, slc6a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014150 - developmental and epileptic encephalopathy 94

MONDO:0014150 - developmental and epileptic encephalopathy 94

Other Model Organisms: AGR, 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)