Disease ID | Source | Name | Description |
618916 | OMIM | Developmental and epileptic encephalopathy 87 (DEE87) | A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE87 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |