familial adult myoclonic epilepsy 3

Term ID

DOID:0111695

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. https://www.ncbi.nlm.nih.gov/pubmed/31664039

References

• MIM:613608

Ontology

Human Disease   ( DOID:0111695 )