Developmental and Epileptic Encephalopathy 75 (DEE75)

Developmental and Epileptic Encephalopathy 75, also known as epileptic encephalopathy, early infantile, 75, is related to perrault syndrome 2 and antisynthetase syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 75 is PARS2 (Prolyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include liver and brain, and related phenotypes are seizure and global developmental delay