OBO ID: DOID:0111696
Term Name: familial adult myoclonic epilepsy 6 Search Ontology:
Synonyms:
  • BAFME6
  • benign adult familial myoclonic epilepsy 6
  • FAME6
  • familial cortical myoclonic tremor and epilepsy 6
  • FCMTE6
Definition: A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. https://www.ncbi.nlm.nih.gov/pubmed/29507423
References:
Ontology: Human Disease   ( DOID:0111696 )
OTHER familial adult myoclonic epilepsy 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNRC6A ?Epilepsy, familial adult myoclonic, 6 618074
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None