| Disease ID | Source | Name | Description |
| 616230 | OMIM | Epilepsy, progressive myoclonic 8 (EPM8) | A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |