Developmental and Epileptic Encephalopathy 52 (DEE52)

Developmental and Epileptic Encephalopathy 52, also known as epileptic encephalopathy, early infantile, 52, is related to brugada syndrome 5 and developmental and epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 52 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Affiliated tissues include brain and heart, and related phenotypes are generalized myoclonic seizure and bilateral tonic-clonic seizure