Version: 8.0.0
Date: Tue Jan 28 2025
familial adult myoclonic epilepsy 5
DOID:0111691
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

familial adult myoclonic epilepsy 5

Definition
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 the CNTN2 gene on chromosome 1q32.1.
Synonyms
  • FAME5
  • familial cortical myoclonic tremor and epilepsy 5
Cross References
Parent Terms
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None
Sources of Associations

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