Disease ID | Source | Name | Description |
618067 | OMIM | Developmental and epileptic encephalopathy 66 (DEE66) | 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. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life. The disease is caused by variants affecting the gene represented in this entry. |