OBO ID: DOID:0111695
Term Name: familial adult myoclonic epilepsy 3 Search Ontology:
Synonyms:
  • FAME3
  • familial cortical myoclonic tremor and epilepsy 3
  • FCMTE3
Definition: A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. https://www.ncbi.nlm.nih.gov/pubmed/31664039
References:
Ontology: Human Disease   ( DOID:0111695 )
Relationships
is a type of:
OTHER familial adult myoclonic epilepsy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MARCH6 Epilepsy, familial adult myoclonic, 3 613608
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.