familial adult myoclonic epilepsy 2

Summary

DOID:0111692 - familial adult myoclonic epilepsy 2

Disease Ontology Definition: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: ADCME, autosomal dominant cortical myoclonus and epilepsy, BAFME2, benign adult familial myoclonic epilepsy 2, FAME2, familial cortical myoclonic tremor and epilepsy 2, FCMTE2

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

: adra2b

MIM:

MIM:607876 - EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

MIM:607876 - EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

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), familial adult myoclonic epilepsy (is_a)