Developmental and Epileptic Encephalopathy 46 (DEE46)

Developmental and Epileptic Encephalopathy 46, also known as epileptic encephalopathy, early infantile, 46, is related to bladder urothelial papillary carcinoma and adamantinoid basal cell epithelioma. An important gene associated with Developmental and Epileptic Encephalopathy 46 is GRIN2D (Glutamate Ionotropic Receptor NMDA Type Subunit 2D). Affiliated tissues include brain, and related phenotypes are seizure and global developmental delay