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 )
Relationships
is a type of:
OTHER Lafora disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPM2A Myoclonic epilepsy of Lafora 1 254780
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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