Developmental and Epileptic Encephalopathy 42

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.

**Synonyms:** - DEE42 - EIEE42 - Epileptic Encephalopathy, Early Infantile, 42