SLC6A1

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. The new report features information from the Children’s Sleep Habits Questionnaire (CSHQ). The CSHQ is a survey that you fill out on your dashboard. 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.”

 

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.

Key Role

The SLC6A1 gene plays a key role in communication between brain cells.

Symptoms

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
  • Seizures
  • 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.

+

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.

There is currently no GeneReviews for SLC6A1.

+

Presentations

SLC6A1 2019 Virtual Family Meeting

+

Research Article Summaries

We currently do not have any article summaries for SLC6A1, but we add resources to our website as they become available.

The information available about SLC6A1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SLC6A1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

+

Family Stories

Stories from SLC6A1 families:

Click here to share your family’s story!