GRIA1

The information for this summary of GRIA1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full GRIA1 Gene Guide

The online Gene Guide includes more information about GRIA1 such as the chance of having another child with this condition, behavior and development concerns linked to GRIA1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is GRIA1-related syndrome?

GRIA1-related syndrome happens when there are changes to the GRIA1 gene. These changes can keep the gene from working as it should.

Key Role

The GRIA1 gene plays a key role in communication among brain cells. The GRIA1 gene codes for a unit of the AMPA receptor. The gene is called GRIA1, and the protein is called GluA1. 

Symptoms

Because the GRIA1 gene is important for brain activity, many people who have GRIA1-related syndrome have: 

  • Intellectual disability
  • Global developmental delay
  • Speech delay or absent speech
  • Sleep disruption
  • Seizures
  • Attention deficit hyperactivity disorder, also called ADHD
  • Delayed walking
  • Autism spectrum disorder
  • Bipolar disorder

How many people have GRIA1-related syndrome?

As of 2024, at least 7 people with GRIA1-related syndrome have been identified in a medical clinic.

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Support Resources

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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.

There is currently no GeneReviews for GRIA1.

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Research Article Summaries

We currently do not have any article summaries for GRIA1, but we add resources to our website as they become available.

The information available about GRIA1 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 GRIA1 articles can be found here.

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

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about GRIA1 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.

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Family Stories

We do not currently have any stories from GRIA1 families.

Click here to share your family’s story!