Developmental and Epileptic Encephalopathy 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ARX gene, encoding homeobox protein ARX.

**Synonyms:** - DEE1 - EIEE1 - Early Infantile Epileptic Encephalopathy 1