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 )
Relationships
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Genes Involved
Zebrafish Models