Developmental and Epileptic Encephalopathy 49 (DEE49)

Developmental and Epileptic Encephalopathy 49, also known as epileptic encephalopathy, early infantile, 49, is related to bladder urothelial papillary carcinoma and adamantinoid basal cell epithelioma. An important gene associated with Developmental and Epileptic Encephalopathy 49 is DENND5A (DENN Domain Containing 5A). Affiliated tissues include brain, and related phenotypes are eeg abnormality and coarse facial features