OBO ID: DOID:0111694
Term Name: familial adult myoclonic epilepsy 7 Search Ontology:
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:
OTHER familial adult myoclonic epilepsy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAPGEF2 ?Epilepsy, familial adult myoclonic, 7 618075
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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