C162472Level 10
Developmental and Epileptic Encephalopathy 4
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the STXBP1 gene, encoding syntaxin-binding protein 1.
**Synonyms:** - DEE4 - EIEE4 - Early Infantile Epileptic Encephalopathy 4
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