Developmental and Epileptic Encephalopathy 76 (DEE76)

Developmental and Epileptic Encephalopathy 76, also known as epileptic encephalopathy, early infantile, 76, is related to cerebellar atrophy, developmental delay, and seizures and cerebral atrophy. An important gene associated with Developmental and Epileptic Encephalopathy 76 is ACTL6B (Actin Like 6B), and among its related pathways/superpathways are Rett syndrome causing genes and RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and seizure