Developmental and Epileptic Encephalopathy 4 (DEE4)

Alias:
Epileptic Encephalopathy, Early Infantile, 4
Dee4
Eiee4
Developmental and Epileptic Encephalopathy, 4
Early Myoclonic Encephalopathy
Stxbp1-Related Developmental and Epileptic Encephalopathy
Developmental and Epileptic Encephalopathy, Type 4
Encephalopathy, Epileptic, Early Infantile, Type 4
Neonatal Epilepsy with Suppression-Burst Pattern
Early Infantile Epileptic Encephalopathy 4
Early-Infantile Epileptic Encephalopathy 4
Stxbp1-Related Early-Onset Encephalopathy
Stxbp1-Related Epileptic Encephalopathy
Stxbp1 Encephalopathy with Epilepsy
Stxbp1 Epileptic Encephalopathy
Stxbp1 Encephalopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 4, also known as epileptic encephalopathy, early infantile, 4, is related to early infantile epileptic encephalopathy and infantile epilepsy syndrome, 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 Fenfluramine and Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are intellectual disability, profound and eeg with burst suppression
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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22
137
46

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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