STXBP1

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

Click here for our full STXBP1 Gene Guide

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.

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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

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.

Learn more about the STXBP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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.

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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.
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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.
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Family Stories

Stories from STXBP1 families:

Click here to share your family’s story!

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Previous Quarterly Reports