GRIN1
The information for this summary of GRIN1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full GRIN1 Gene Guide
The online Gene Guide includes more information about GRIN1 such as the chance of having another child with this condition, behavior and development concerns linked to GRIN1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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What is GRIN1-related syndrome?
GRIN1-related syndrome happens when there are changes to the GRIN1 gene. These changes can keep the gene from working as it should.
Key Role
The GRIN1 gene plays a key role in communication between brain cells, memory, and learning. The GRIN1 gene makes part of the NMDA receptor. The gene is called GRIN1, and the protein that makes up part of the NMDA receptor is called GluN1.
Symptoms
Because the GRIN1 gene is important for brain activity, many people who have GRIN1-related syndrome have:
- Intellectual disability
- Global developmental delay
- Speech delay or absent speech
- Seizures
- Attention-deficit/hyperactivity disorder, also called ADHD
- Inability to walk or movement issues
- Autism
- Sleep disruption
- Poor feeding
How many people have GRIN1-related syndrome?
As of 2024, at least 128 people with GRIN1-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – GRIN1 Facebook group
- CureGRIN Foundation
- GRIN Europe
- GRI France – https://gri-france.org
GeneReviews
GeneReviews are a great resources 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 GeneReviews for GRIN1.
Research Article Summaries
We currently do not have any article summaries for GRIN1, but we add resources to our website as they become available.
The information available about GRIN1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 GRIN1 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 GRIN1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.