Developmental and Epileptic Encephalopathy 48 (DEE48)

Developmental and Epileptic Encephalopathy 48, also known as epileptic encephalopathy, early infantile, 48, is related to psoriasis 15 and developmental and epileptic encephalopathy 73. An important gene associated with Developmental and Epileptic Encephalopathy 48 is AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Affiliated tissues include eye and brain, and related phenotypes are seizure and global developmental delay