Visualize Submit Comment
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

OMIM:613608

Synonyms

FAME3 [EXACT]

familial cortical myoclonic tremor and epilepsy 3 [EXACT]

FCMTE3 [EXACT]

Parent Relationships

is_a familial adult myoclonic epilepsy

is_a autosomal dominant disease

Add an item to the term tracker