Human genes for progressive myoclonus epilepsy 10
Progressive myoclonus epilepsy 10 [DOID:0111445]
A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21.
Synonyms: progressive myoclonus epilepsy 10, DOID:0111445, early-onset Lafora body disease, EPM10, earlyonset Lafora body disease ...