familial adult myoclonic epilepsy 5

Term ID

DOID:0111691

Synonyms

• FAME5
• familial cortical myoclonic tremor and epilepsy 5
• FCMTE5

Definition

A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. https://www.ncbi.nlm.nih.gov/pubmed/23518707

References

• OMIM:615400

Ontology

Human Disease   ( DOID:0111691 )