Advanced Diagnostic & Interventional Radiology Research Center | A heterozygous STXBP1 gene de novo mutation in an Iranian child

Advanced Diagnostic & Interventional Radiology Research Center | A heterozygous STXBP1 gene de novo mutation in an Iranian child
| Dec 15 2025
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Advanced Diagnostic & Interventional Radiology Research Center

COVID-19 pandemic 

During the COVID-19 pandemic, the Radiology Research Center at Tehran University of Medical Sciences continued its research activities despite the challenges posed by the increased demand for CT scans of COVID-19 patients and the necessity of adhering to strict health protocols. This center played a crucial role in improving medical imaging techniques, optimizing diagnostic protocols, and advancing technologies related to CT scan image analysis.

Faculty members, researchers, and staff remained committed to ensuring the safety and well-being of healthcare professionals and patients while actively engaging in imaging data analysis, developing artificial intelligence algorithms for faster disease detection, publishing scientific articles, and presenting their findings at international conferences. These efforts aimed to enhance diagnostic accuracy, improve treatment processes, and alleviate pressure on healthcare systems.

 

Key achievements of the Radiology Research Center during the COVID-19 pandemic include:


✔️ Development and optimization of lung imaging protocols for faster and more accurate COVID-19 diagnosis
✔️ Implementation of artificial intelligence technologies for automated CT scan analysis and reduced diagnosis time
✔️ Publication of high-impact research articles on innovative imaging methods for COVID-19 patients
✔️ Participation in national and international projects focused on COVID-19 diagnosis and patient management

The center remains dedicated to advancing research in medical imaging and continues to contribute as a leading scientific institution in improving the quality of diagnostic and therapeutic services.

 

Some of the center's significant achievements during the pandemic include:

 

  • Release Date : Apr 17 2024 - 09:10
  • : 28
  • Study time : Less than one minute

A heterozygous STXBP1 gene de novo mutation in an Iranian child with epileptic encephalopathy: Case report

A heterozygous STXBP1 gene de novo mutation in epileptic encephalopathy {faces}

 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 causing
an epileptic encephalopathy, early infantile, non-epileptic movement, and unclassified infantile spasms
disorders in a 5-year-old boy by whole-exome sequencing. The segregation of this genetic variant was
examined in the patient as well as in his parents. We found the R388X in heterozygous state in the proband
but not in his parents. This genetic change could be due to de nova mutation or germlinemosaicism.
© 2019 Tehran University of Medical Sciences. All rights reserved

  • Article_DOI : doi.org/10.18502/acta.v57i8.2429
  • Author(s) : masoud hedari,mansour heidari
  • News Group : research,articles
  • News Code : 278376
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