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familial adult myoclonic epilepsy 6
Summary
- Synonym
-
- BAFME6
- FAME6
- FCMTE6
- benign adult familial myoclonic epilepsy 6
- familial cortical myoclonic tremor and epilepsy 6
- Definition
- A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.
- Super Class
- autosomal dominant disease familial adult myoclonic epilepsy
External Links
- Disease Ontology
- DOID:0111696
- Mondo Disease Ontology
- OMIM
