STXBP1

Below is a summary for the STXBP1 gene observed in research publications. This is not meant to take the place of medical advice.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with STXBP1 responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”


VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

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.

Key Role

The STXBP1 gene plays a key role in how brain cells communicate.

Symptoms

Because the STXBP1 gene is important in brain cell function, many people who have STXBP1-related syndrome have:

  • Seizures
  • 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.

+

Support Resources

+

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

+

Research Article Summaries

Below, we have summarized research articles about changes in the STXBP1 gene. We hope you find this information helpful. The information available about STXBP1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for STXBP1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • STXBP1 Encephalopathy Original research article by Stamberger et al. (2016). Read the abstract here and the Simons Searchlight summary here.
  • Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome Original research article by Gburek-Augustat et al. (2016). Read the abstract here and the Simons Searchlight summary here.
  • GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome Original research article by Carvill et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • Intellectual disability without epilepsy associated with STXBP1 disruption Original research article by Hamdan et al. (2011). Read the abstract here and the Simons Searchlight summary here.
  • De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy Original research article by Hamdan et al. (2009). Read the abstract here and the Simons Searchlight summary here.
+

Research Opportunities

  • Simons Searchlight  – Help the Simons Searchlight team learn more about STXBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
  • WACEAN – WACEAN is the latest project of the Dravet Syndrome Foundation in their effort to find better treatments for refractory epilepsy syndromes. To learn more, click here.
+

Family Stories

Stories from STXBP1 families:

Click here to share your family’s story!