| Metadata | |
|---|---|
| ID | DOID:0111694 |
| Name | familial adult myoclonic 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. https://www.ncbi.nlm.nih.gov/pubmed/29507423 |
| Xrefs | |
| Synonyms |
BAFME7 [EXACT] benign adult familial myoclonic epilepsy 7 [EXACT] FAME7 [EXACT] familial cortical myoclonic tremor and epilepsy 7 [EXACT] FCMTE7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |