Developmental and Epileptic Encephalopathy 66

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.

**Synonyms:** - DEE66 - EIEE66 - Early Infantile Epileptic Encephalopathy 66