Disease

Early Infantile Epileptic Encephalopathy 13

About the Disease
Developmental and Epileptic Encephalopathy 13, also known as epileptic encephalopathy, early infantile, 13, is related to ohtahara syndrome and dravet syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 13 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Affiliated tissues include brain, eye and cortex, and related phenotypes are developmental regression and global developmental delay

Common Targets
SCN8A

疾病靶点研报
Early Infantile Epileptic Encephalopathy 13

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