Human genes for Lafora disease
Lafora disease [DOID:3534]
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.
Synonyms: Lafora disease, DOID:3534, Lafora disorder, Lafora syndrome, Lafora diseases ...
Linkouts: OMIM