OBO ID: DOID:0111690
Term Name: familial adult myoclonic epilepsy 1 Search Ontology:
Synonyms:
  • BAFME1
  • benign adult familial myoclonic epilepsy 1
  • FAME1
  • familial cortical myoclonic tremor and epilepsy 1
  • FCMTE1
Definition: A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. (2)
References:
Ontology: Human Disease   ( DOID:0111690 )
OTHER familial adult myoclonic epilepsy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SAMD12 Epilepsy, familial adult myoclonic, 1 601068
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None