Developmental and Epileptic Encephalopathy 54 (DEE54)

Developmental and Epileptic Encephalopathy 54, also known as dee54, is related to infancy electroclinical syndrome and adolescence-adult electroclinical syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 54 is HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U), and among its related pathways/superpathways are Fragile X syndrome and Benzodiazepine Pathway, Pharmacodynamics. Affiliated tissues include brain, and related phenotypes are intellectual disability and eeg abnormality