Term Name: | familial adult myoclonic epilepsy 3 |
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Synonyms: | FAME3, familial cortical myoclonic tremor and epilepsy 3, FCMTE3 |
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. |
Ontology: | Human Disease [DOID:0111695] ( DOID:0111695 ) |