| Disease ID | Source | Name | Description |
| 616645 | OMIM | Developmental and epileptic encephalopathy 34 (DEE34) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally. The disease is caused by variants affecting the gene represented in this entry. |
| 616685 | OMIM | Epilepsy, idiopathic generalized 14 (EIG14) | An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Disease susceptibility is associated with variants affecting the gene represented in this entry. |