Developmental and Epileptic Encephalopathy 33 (DEE33)

Developmental and Epileptic Encephalopathy 33(来自ICD-11)

别称:

Dee33

Developmental and Epileptic Encephalopathy, 33

Epileptic Encephalopathy, Early Infantile, 33

Eiee33

Encephalopathy, Epileptic, Early Infantile, Type 33

Early Infantile Epileptic Encephalopathy 33

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental and Epileptic Encephalopathy 33, also known as dee33, is related to intellectual developmental disorder, autosomal dominant 38. An important gene associated with Developmental and Epileptic Encephalopathy 33 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2), and among its related pathways/superpathways is Ca, cAMP and Lipid Signaling. Affiliated tissues include brain, and related phenotypes are seizure and hypotonia

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