C188139Level 10
Developmental and Epileptic Encephalopathy 13
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SCN8A gene, encoding sodium channel protein type 8 subunit alpha.
**Synonyms:** - DEE13 - EIEE13 - Encephalopathy, Early Infantile, 13
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