Terminology Service for NFDI4Health

familial adult myoclonic epilepsy 2

Go to external page http://purl.obolibrary.org/obo/DOID_0111692


A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

familial adult myoclonic epilepsy 2

Synonyms
  • ADCME
  • BAFME2
  • FAME2
  • FCMTE2
  • autosomal dominant cortical myoclonus and epilepsy
  • benign adult familial myoclonic epilepsy 2
  • familial cortical myoclonic tremor and epilepsy 2
database cross reference
has obo namespace

disease_ontology

id

DOID:0111692