Visualize Submit Comment
Metadata
ID DOID:0111694
Name familial adult myoclonic epilepsy 7
Definition A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1.
https://www.ncbi.nlm.nih.gov/pubmed/29507423
Xrefs

OMIM:618075

Synonyms

BAFME7 [EXACT]

benign adult familial myoclonic epilepsy 7 [EXACT]

FAME7 [EXACT]

familial cortical myoclonic tremor and epilepsy 7 [EXACT]

FCMTE7 [EXACT]

Parent Relationships

is_a familial adult myoclonic epilepsy

is_a autosomal dominant disease

Add an item to the term tracker