Below is a summary for the GRIN2A gene observed in research publications. This is not meant to take the place of medical advice.
What is GRIN2A-related disorder?
GRIN2A-related disorder happens when there are changes in the GRIN2A gene. These changes can keep the gene from working as it should.
The GRIN2A gene plays an important role in brain cell communication, learning, and memory.
Because the GRIN2A gene is important for the brain, some people may have:
- Intellectual disability
- Speech and language difficulties
- Autistic features
- Low muscle tone
- Movement issues
Do people who have GRIN2A-related disorder look different?
People who have GRIN2A-related disorder do not look different.
How many people have GRIN2A-related disorder?
As of 2022, about 138 people in the world with GRIN2A-related disorder have been identified clinically.
- Simons Searchlight Community
- CureGRIN Foundation
- GRIN Europe
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.
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.
Stories from GRIN2A families:
Click here to share your family’s story!