C142802Level 10
Developmental and Epileptic Encephalopathy 19
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the GABRA1 gene, encoding gamma-aminobutyric acid receptor subunit alpha-1.
**Synonyms:** - DEE19 - EIEE19 - Early Infantile Epileptic Encephalopathy 19
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