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DO Term : familial adult myoclonic epilepsy 2 [DOID:0111692] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.
  • synonyms:
  • familial cortical myoclonic tremor and epilepsy 2,
  • autosomal dominant cortical myoclonus and epilepsy,
  • OMIM:607876,
  • ADCME,
  • 607876,
  • BAFME2,
  • FAME2,
  • benign adult familial myoclonic epilepsy 2,
  • FCMTE2
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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