Developmental and Epileptic Encephalopathy 47 (DEE47)

Developmental and Epileptic Encephalopathy 47, also known as epileptic encephalopathy, early infantile, 47, is related to down syndrome and early infantile epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 47 is FGF12 (Fibroblast Growth Factor 12), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include brain and breast, and related phenotypes are developmental regression and feeding difficulties