SLC6A1

The information for this summary of SLC6A1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full SLC6A1 Gene Guide

The online Gene Guide includes more information about SLC6A1-related syndrome such as the chance of having another child with this condition, behavior and development concerns linked to SLC6A1-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 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 for brain activity, many people who have SLC6A1-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Speech delay
  • Seizures
  • Behavioral issues, including attention-deficit/hyperactivity disorder (ADHD), aggression, and features of autism
  • Movement issues

How many people have SLC6A1-related syndrome?

As of 2024, at least 209 people with SLC6A1-related syndrome have been identified in a medical clinic.

Learn more about the SLC6A1 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.

Check out the GeneReviews for SLC6A1 .

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Presentations

SLC6A1 2019 Virtual Family Meeting

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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.

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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.
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Family Stories

Stories from SLC6A1  families:

Click here to share your family’s story!

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Previous Quarterly Reports