Term Name: | familial adult myoclonic epilepsy 7 |
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Synonyms: | BAFME7, benign adult familial myoclonic epilepsy 7, FAME7, familial cortical myoclonic tremor and epilepsy 7, FCMTE7 |
Definition: | A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. |
Ontology: | Human Disease [DOID:0111694] ( DOID:0111694 ) |