Developmental and Epileptic Encephalopathy 94

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the CHD2 gene, encoding chromodomain-helicase-DNA-binding protein 2. It is characterized by childhood-onset severe seizures and is associated with a poor prognosis.

**Synonyms:** - Childhood-Onset Epileptic Encephalopathy - DEE94 - EEOC