Term Name: | progressive myoclonus epilepsy 10 |
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Synonyms: | early-onset Lafora body disease, EPM10 |
Definition: | 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 the PRDM8 gene on chromosome 4q21.21. |
Ontology: | Human Disease [DOID:0111445] ( DOID:0111445 ) |