| Metadata | |
|---|---|
| ID | DOID:0111690 |
| Name | familial adult myoclonic epilepsy 1 |
| Definition | A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. https://www.ncbi.nlm.nih.gov/pubmed/29939203, https://www.ncbi.nlm.nih.gov/pubmed/29507423 |
| Xrefs | |
| Synonyms |
BAFME1 [EXACT] benign adult familial myoclonic epilepsy 1 [EXACT] FAME1 [EXACT] familial cortical myoclonic tremor and epilepsy 1 [EXACT] FCMTE1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |