Developmental and Epileptic Encephalopathy 53 (DEE53)

Developmental and Epileptic Encephalopathy 53, also known as epileptic encephalopathy, early infantile, 53, is related to intellectual developmental disorder, autosomal dominant 7 and charcot-marie-tooth disease, type 4j. An important gene associated with Developmental and Epileptic Encephalopathy 53 is SYNJ1 (Synaptojanin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include liver and eye, and related phenotypes are seizure and global developmental delay