GRIN2A

Below is a summary for the GRIN2A gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full GRIN2A Gene Guide

The online Gene Guide includes more information about GRIN2A such as the chance of having another child with this condition, behavior and development concerns linked to GRIN2A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

GRIN2A-related syndrome is also called GRIN2A-related disorder. For this webpage, we will be using the name GRIN2A-related syndrome to encompass the wide range of variants observed in the people identified.

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What is GRIN2A-related syndrome?

GRIN2A-related syndrome happens when there are changes to the GRIN2A gene. These changes can keep the gene from working as it should.

Key Role

The GRIN2A gene plays an important role in brain cell communication, learning, and memory.

Symptoms

Because the GRIN2A gene is important for brain activity, many people who have GRIN2A-related syndrome have:

Developmental delay
Intellectual disability
Learning disabilities
Seizures
Speech and language difficulties
Features of autism
Low muscle tone, also called hypotonia
Movement issues
Attention difficulties
Brain changes seen on magnetic resonance imaging (MRI)

How many people have GRIN2A-related syndrome?

As of 2025, about 400 people with GRIN2A-related syndrome have been identified in a medical clinic.

Support Resources

Simons Searchlight Community
- GRIN2A Facebook group
CureGRIN Foundation
GRIN Europe
- Facebook page
Unique
- GRIN2A Guidebook

GeneReview

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 GeneReview for GRIN2A.

Research Article Summaries

Below, we have summarized research articles about changes in the GRIN2A gene. We hope you find this information helpful.

The information available about GRIN2A 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 GRIN2A articles can be found here.

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

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Original research article by T.N. Pierson et al. (2014)

Read the article here and the Simons Searchlight summary here.

Two patients with a GRIN2A mutation and childhood-onset epilepsy

Original research article by S.P. DeVries and A.D. Patel et al. (2013)

Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about GRIN2A genetic changes by taking part in our research. You can learn more about the project and sign up here.