Search Ontology:
Human Disease

familial adult myoclonic epilepsy 7

Term ID
DOID:0111694
Synonyms
  • BAFME7
  • benign adult familial myoclonic epilepsy 7
  • FAME7
  • familial cortical myoclonic tremor and epilepsy 7
  • FCMTE7
Definition
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. https://www.ncbi.nlm.nih.gov/pubmed/29507423
References
Ontology
Human Disease   ( DOID:0111694 )
Relationships
is a type of
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Genes Involved
Zebrafish Models