Learn more about GNB1 and connect with other Simons Searchlight families with the resources below.
What is GNB1 encephalopathy?
GNB1 encephalopathy is caused by changes in the GNB1 gene. These changes can keep the gene from working as it should. GNB1 encephalopathy is also called GNB1-E.
GNB1 plays a key role in cell communication and is important for early development, learning and memory, and other cell activities.
Many people who have GNB1 encephalopathy have:
- Intellectual disability
- Low muscle tone, or hypotonia
- Brain disorders
- Movement issues
Do people who have GNB1 encephalopathy look different?
Most people who have GNB1 encephalopathy do not look different. Some people may have:
- larger than average head size, or macrocephaly
- Eyes that are further apart
- Cleft palate
- Simons Searchlight Community – GNB1 Facebook group
- GNB1 Foundation
– GNB1 Foundation – GNB1.org
– GNB1 Foundation – Facebook page
- GNB1 Gene Disorder – Facebook group
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 GeneReviews for GNB1 Encephalopathy.
Research Article Summaries
We currently do not have any article summaries for GNB1, but we add resources to our website as they become available.
The information available about GNB1 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 GNB1 articles can be found here.
Help the Simons Searchlight team learn more about GNB1 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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