Search Ontology:
Human Disease

Lafora disease

Term ID
DOID:3534
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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