Term Name: | Lafora disease |
---|---|
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. |
Ontology: | Human Disease [DOID:3534] ( DOID:3534 ) |