Below is a summary for the SLC6A1 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 SLC6A1 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 SLC6A1-related syndrome?
SLC6A1-related syndrome happens when there are changes to the SLC6A1 gene. These changes can keep the gene from working as it should.
The SLC6A1 gene plays a key role in communication between brain cells.
Because the SLC6A1 gene is important in the development and function of brain cells, many people who have SLC6A1-related syndrome have:
- Intellectual disability
- Speech delay
- Behavior issues, including attention deficit hyperactivity disorder, aggression, and features of autism
Do people who have SLC6A1-related syndrome look different?
People who have SLC6A1-related syndrome do not look different.
Research Article Summaries
Previous Registry Reports