A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

The Syntaxin Binding Protein 1 (STXBP1) plays an important role in regulating neurotransmitter release and synaptic vesicle fusion through binding to syntaxin-1A (STX1A) and changing its conformation. In this study, we identified a de novo mutation (c.C1162T: p.R388X) in exon 14 of the STXBP1 gene...

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Bibliographic Details
Main Authors: Masoud Heidari, Morteza Soleyman-Nejad, Mohammad Hossein Taskhiri, Alireza Isazadeh, Manzar Bolhassan, Javad Shahpouri, Mansour Heidari, Nahid Sadighi
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2020-02-01
Series:Acta Medica Iranica
Subjects:
Syntaxin binding protein 1 (STXBP1) gene
Mutation
Epileptic encephalopathy
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/8047

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