Below is a summary for the STXBP1 gene observed in research publications. This is not meant to take the place of medical advice.
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
Do people who have STXBP1-related syndrome look different?
People who have STXBP1-related syndrome generally don’t look different.
Research Article Summaries