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ENStxbp1 Encephalopathy with Epilepsy (EIEE4)
Alias:
Stxbp1-Related Developmental Epileptic Encephalopathy
Epileptic Encephalopathy, Early Infantile, 4
Early-Infantile Epileptic Encephalopathy 4
Stxbp1 Epileptic Encephalopathy
Stxbp1-Dee
Eiee4
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Stxbp1 Encephalopathy with Epilepsy, also known as stxbp1-related developmental epileptic encephalopathy, is related to developmental and epileptic encephalopathy 4 and epilepsy, and has symptoms including tremor, tonic seizures and absence seizures. The drugs Fenfluramine and Stiripentol have been mentioned in the context of this disorder.
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MALACARDS
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