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familial adult myoclonic epilepsy 5

Go to external page http://purl.obolibrary.org/obo/DOID_0111691


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 CNTN2 on chromosome 1q32.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

familial adult myoclonic epilepsy 5

Synonyms
  • FAME5
  • FCMTE5
  • familial cortical myoclonic tremor and epilepsy 5
database cross reference
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disease_ontology

id

DOID:0111691