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.
This latest report includes updated information about Simons Searchlight participants with STXBP1-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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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
How many people have STXBP1-related syndrome?
As of 2019, about 200 people in the world with changes in the STXBP1 gene had been described in medical research. The first case of STXBP1-related syndrome was described in 2008. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries
Previous Registry Reports