Search Ontology:
Human Disease
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
- Ontology
- Human Disease ( DOID:0111691 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models