OBO ID: DOID:0111691
Term Name: familial adult myoclonic epilepsy 5 Search Ontology:
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 CNTN2 on chromosome 1q32.1. https://www.ncbi.nlm.nih.gov/pubmed/23518707
References:
Ontology: Human Disease   (DOID:0111691)
OTHER familial adult myoclonic epilepsy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNTN2 ?Epilepsy, myoclonic, familial adult, 5 615400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None