English 
Español 
Deutsch 
Français 
Italiano 
Nederlands 
Português GRIA2
The information for this summary of GRIA2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full GRIA2 Gene Guide
The online Gene Guide includes more information about GRIA2 such as the chance of having another child with this condition, behavior and development concerns linked to GRIA2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is GRIA2-related syndrome?
GRIA2-related syndrome happens when there are changes in the GRIA2 gene. These changes can keep the gene from working as it should.
The GRIA2 gene codes for a unit of the AMPA receptor. The gene is called GRIA2, and the protein is called GluA2.
Key Role
The GRIA2 gene plays a key role in communication among brain cells.
Symptoms
Because the GRIA2 gene is important for brain activity, many people who have GRIA2-related syndrome have:
- Intellectual disability
- Global developmental delay
- Speech delay or absent speech
- Delayed or absent walking
- Movement discoordination
- Seizures
- Autism spectrum disorder
How many people have GRIA2-related syndrome?
As of 2024, at least 39 people with GRIA2-related syndrome have been identified in the medical literature.
Learn more about the GRIA2 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. Research Articles and References Below, we have summarized research articles about changes in the GRIA2 gene. We hope you find this information helpful. The information available about GRIA2 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 GRIA2 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 GRIA2 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 GRIA2 families. Click here to share your family’s story!