familial adult myoclonic epilepsy 7

Term ID

DOID:0111694

Synonyms

• BAFME7
• benign adult familial myoclonic epilepsy 7
• FAME7
• familial cortical myoclonic tremor and epilepsy 7
• FCMTE7

Definition

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. https://www.ncbi.nlm.nih.gov/pubmed/29507423

References

• OMIM:618075

Ontology

Human Disease   ( DOID:0111694 )