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ENDevelopmental and Epileptic Encephalopathy 82 (DEE82)
Alias:
Epileptic Encephalopathy, Early Infantile, 82
Dee82
Developmental and Epileptic Encephalopathy, 82
Got2 Deficiency
Eiee82
Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of
Deficiency of Mitochondrial Glutamate Oxaloacetate Transaminase
Early Infantile Epileptic Encephalopathy 82
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Developmental and Epileptic Encephalopathy 82, also known as epileptic encephalopathy, early infantile, 82, is related to developmental and epileptic encephalopathy and hyperhomocysteinemia. An important gene associated with Developmental and Epileptic Encephalopathy 82 is GOT2 (Glutamic-Oxaloacetic Transaminase 2), and among its related pathways/superpathways are Glycosaminoglycan metabolism and glycolysis (BioCyc). Affiliated tissues include brain, and related phenotypes are seizure and delayed speech and language development
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