Disease ID | Source | Name | Description |
618832 | OMIM | Epilepsy, early-onset, with or without developmental delay (EPEDD) | An autosomal dominant neurologic disorder characterized by early onset of generalized tonic-clonic seizures associated with sharp wave and sharp slow wave discharges on EEG. Some EPEDD patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging. The disease is caused by variants affecting the gene represented in this entry. |