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Disease Ontology Browser
familial adult myoclonic epilepsy 2 (DOID:0111692)
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Synonyms: ADCME; autosomal dominant cortical myoclonus and epilepsy; BAFME2; benign adult familial myoclonic epilepsy 2; FAME2; familial cortical myoclonic tremor and epilepsy 2; FCMTE2
Alt IDs: OMIM:607876
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory