Developmental and Epileptic Encephalopathy 18

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding SZT2 subunit of KICSTOR complex.

**Synonyms:** - DEE18 - EIEE18 - Early Infantile Epileptic Encephalopathy 18