Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SMC1A gene, encoding structural maintenance of chromosomes protein 1A.

**Synonyms:** - DEE85 - EIEE85 - Early Infantile Epileptic Encephalopathy 85 with or without Midline Brain Defects