Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Alleles: Tg(CAG-EPM2A*C266S)1Bmin (Mmu)

Lafora disease

Disease
Source: DOID:3534
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.