Terminology Service for NFDI4Health

familial adult myoclonic epilepsy 6

Go to external page http://purl.obolibrary.org/obo/DOID_0111696


A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

familial adult myoclonic epilepsy 6

Synonyms
  • BAFME6
  • FAME6
  • FCMTE6
  • benign adult familial myoclonic epilepsy 6
  • familial cortical myoclonic tremor and epilepsy 6
database cross reference
has obo namespace

disease_ontology

id

DOID:0111696