Developmental and Epileptic Encephalopathy 40 (DEE40)

Developmental and Epileptic Encephalopathy 40, is also known as epileptic encephalopathy, early infantile, 40. An important gene associated with Developmental and Epileptic Encephalopathy 40 is GUF1 (GTP Binding Elongation Factor GUF1). Affiliated tissues include eye, and related phenotypes are hypotonia and profound global developmental delay