The information for this summary of GRIK2-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full GRIK2 Gene Guide

The online Gene Guide includes more information about GRIK2 such as the chance of having another child with this condition, behavior and development concerns linked to GRIK2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is GRIK2-related syndrome?

GRIK2-related syndrome happens when there are changes in the GRIK2 gene. These changes can keep the gene from working as it should.

Key Role

The GRIK2 gene plays a key role in communication among brain cells. The GRIK2 gene codes for a unit of the glutamate receptor. The gene is called GRIK2, and the protein is called GluR6. 


Because the GRIK2 gene is important for brain activity, many people who have GRIK2-related syndrome have:

  • Intellectual disability
  • Global developmental delay
  • Speech delay or absent speech
  • Delayed walking or inability to walk
  • Movement issues, such as ataxia
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Low muscle tone
  • Sleep issues
  • Features of autism
  • Anxiety
  • Impulsivity or hyperactivity

How many people have GRIK2-related syndrome?

As of 2024, at least 10 people with GRIK2-related syndrome have been identified in a medical clinic. About 12 people have been described in medical research.

Learn more about the GRIK2 gene and connect with other Simons Searchlight families with the resources below:


Support Resources



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 GRIK2.


Research Articles and References

Below, we have summarized research articles about changes in the GRIK2 gene. We hope you find this information helpful.

The information available about GRIK2 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 GRIK2 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 GRIK2 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 GRIK2 families.

Click here to share your family’s story!