Developmental and Epileptic Encephalopathy 46

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the GRIN2D gene, encoding glutamate receptor ionotropic, NMDA 2D. It is characterized by developmental delay and intractable seizures.

**Synonyms:** - DEE46 - EIEE46 - Early Infantile Epileptic Encephalopathy 46