| Disease ID | Source | Name | Description |
| 616187 | OMIM | Epilepsy, progressive myoclonic 7 (EPM7) | 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. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. The disease is caused by variants affecting the gene represented in this entry. |