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The information for this summary of GRIA3-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full GRIA3 Gene Guide
The online Gene Guide includes more information about GRIA3 such as the chance of having another child with this condition, behavior and development concerns linked to GRIA3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is GRIA3-related syndrome?
GRIA3-related syndrome happens when there are changes in the GRIA3 gene. These changes can keep the gene from working as it should. The GRIA3 gene is located on the X chromosome. Males carrying the genetic variation are usually affected with the condition.
Key Role
The GRIA3 gene plays a key role in communication among brain cells. The GRIA3 gene codes for a unit of the AMPA receptor. The gene is called GRIA3, and the protein is called GluA3.
Symptoms
Because the GRIA3 gene is important for brain activity, many people who have GRIA3-related syndrome have:
- Intellectual disability
- Global developmental delay
- Sleep disturbances
- Seizures
- Muscle overactivity, also called hypertonia
- Decreased muscle tone, also called hypotonia
- Movement disorders
How many people have GRIA3-related syndrome?
As of 2024, at least 43 people with GRIA3-related syndrome have been identified in the medical literature.
Learn more about the GRIA3 gene and connect with other Simons Searchlight families with the resources below:
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 are currently no GeneReviews for GRIA3. Research Articles and References Below, we have summarized research articles about changes in the GRIA3 gene. We hope you find this information helpful. The information available about GRIA3 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 GRIA3 articles can be found here. 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 GRIA3 genetic changes by taking part in our research. You can learn more about the project and sign up here. Family Stories We do not currently have any stories from GRIA3 families. Click here to share your family’s story!