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familial adult myoclonic epilepsy 7
Summary
- Synonym
-
- BAFME7
- FAME7
- FCMTE7
- benign adult familial myoclonic epilepsy 7
- familial cortical myoclonic tremor and epilepsy 7
- 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.
- Super Class
- autosomal dominant disease familial adult myoclonic epilepsy
External Links
- Disease Ontology
- DOID:0111694
- Mondo Disease Ontology
- OMIM
