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DO Term : myoclonic-atonic epilepsy [DOID:0060475] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 616421,
  • EEOC,
  • OMIM:616421,
  • childhood onset epileptic encephalopathy
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents