OBO ID: DOID:3534
Term Name: Lafora disease Search Ontology:
Synonyms:
  • Lafora Progressive Myoclonic Epilepsy
  • Lafora's disease
  • MYOCLONIC EPILEPSY OF LAFORA
Definition: A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. (2)
References:
Ontology: Human Disease   (DOID:3534)
OTHER Lafora disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPM2A Epilepsy, progressive myoclonic 2A (Lafora) 254780
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora) 254780
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None