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DO Term : developmental and epileptic encephalopathy 32 [DOID:0080416] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.
  • synonyms:
  • 616366,
  • OMIM:616366,
  • early infantile epileptic encephalopathy 32,
  • DEE32
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents