Lafora disease (DOID:3534)
Alliance: disease page
Synonyms: Lafora Progressive Myoclonic Epilepsy; Lafora's disease; MYOCLONIC EPILEPSY OF LAFORA
Alt IDs: OMIM:254780, MESH:D020192, NCI:C84804, UMLS_CUI:C0751783
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.