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familial adult myoclonic epilepsy 3

Go to external page http://purl.obolibrary.org/obo/DOID_0111695


A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

familial adult myoclonic epilepsy 3

Synonyms
  • FAME3
  • FCMTE3
  • familial cortical myoclonic tremor and epilepsy 3
database cross reference
has obo namespace

disease_ontology

id

DOID:0111695