Early Infantile Epileptic Encephalopathy 4

About the Disease
Developmental and Epileptic Encephalopathy 4, also known as epileptic encephalopathy, early infantile, 4, is related to ohtahara syndrome and benign neonatal seizures, and has symptoms including muscle spasticity, tremor and tonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 4 is STXBP1 (Syntaxin Binding Protein 1). The drugs Stiripentol and Fenfluramine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are tremor and developmental regression

Common Targets
UBA5 | STXBP1

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