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 the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

Latest STXBP1 Report Download Report

Simons Searchlight just released a new report that includes updated information on your genetic community. The report also focuses on development using a survey called the Vineland Adaptive Behavior Scales. Caregivers share how their family members with our genetic condition respond to different skills like communication, self-care, and social skills. This survey helps doctors and researchers understand how our skills change over time.

If you want to help contribute to this research, it’s important to participate in surveys. To view past registry reports and learn more, go to the Simons Searchlight website and click on “Previous Registry Reports.”

Join Simons Searchlight today to be included in future reports!

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.

LEARNING

Almost everyone who has STXBP1-related syndrome has some level of intellectual disability. About 90 percent have severe intellectual disability.

BEHAVIOR

About 20 percent of people who have the syndrome have repetitive behaviors. About 17 percent have autism.

BRAIN

Almost everyone — 95 percent — who has the syndrome has seizures at some point in their lives. More than one-half have early-onset seizures.

Support Resources

Simons Searchlight Community – STXBP1 Facebook group
STXBP1 Foundation Website – stxbp1disorders.org
STXBP1 Foundation – Facebook page
Unique – STXBP1 Guidebook
Geisinger Developmental Brain Disorder Gene Database – STXBP1

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.

GeneReviews chapter for STXBP1

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!

Previous Registry Reports