| Metadata | |
|---|---|
| ID | DOID:0111695 |
| Name | familial adult myoclonic epilepsy 3 |
| Definition | A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. https://www.ncbi.nlm.nih.gov/pubmed/31664039 |
| Xrefs | |
| Synonyms |
FAME3 [EXACT] familial cortical myoclonic tremor and epilepsy 3 [EXACT] FCMTE3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |