familial adult myoclonic epilepsy 6

Term ID

DOID:0111696

Synonyms

• BAFME6
• benign adult familial myoclonic epilepsy 6
• FAME6
• familial cortical myoclonic tremor and epilepsy 6
• FCMTE6

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. https://www.ncbi.nlm.nih.gov/pubmed/29507423

References

• OMIM:618074

Ontology

Human Disease   ( DOID:0111696 )