Below is a summary for the STXBP1 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about STXBP1 such as the chance of having another child with this condition, behavior and development concerns linked to STXBP1 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
The latest Simons Searchlight report includes updated information on your genetic community and analyzes developmental growth charts based on the Vineland Adaptive Behavior Scales (Vineland-3) survey. This data shows skills at different ages and helps doctors and researchers understand how these skills change over time. Watch our short video to understand the charts better.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is STXBP1 -related Syndrome?
STXBP1 -related syndrome happens when there are changes to the STXBP1 gene. These changes can keep the gene from working as it should. The syndrome is also known as STXBP1 encephalopathy or STXBP1 -E.
The STXBP1 gene plays a key role in how brain cells communicate.
Because the STXBP1 gene is important in brain cell function, many people who have STXBP1 -related syndrome have:
- Movement challenges
- Autism spectrum disorder
Research Article Summaries
Previous Registry Reports