SCN1B
The information for this summary of SCN1B-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full SCN1B Gene Guide
The online Gene Guide includes more information about SCN1B such as the chance of having another child with this condition, behavior and development concerns linked to SCN1B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
SCN1B-related syndrome is also called atrial fibrillation, familial, 13 (ATFB13), developmental and epileptic encephalopathy-52 (DEE52), and generalized epilepsy with febrile seizures plus type 1 (GEFSP1). For this webpage, we will be using the name SCN1B-related syndrome to encompass the wide range of variants observed in the people identified.
What is SCN1B-related syndrome?
SCN1B-related syndrome happens when there are changes in the SCN1B gene. These changes can keep the gene from working as it should.
Key Role
The SCN1B gene plays an important role in brain function.
Symptoms
Because the SCN1B gene is important for brain activity, many people who have SCN1B-related syndrome have:
- Developmental delay
- Brugada syndrome, which is a condition that causes abnormal heartbeats
- Generalized epilepsy with febrile seizures
How many people have SCN1B-related syndrome?
As of 2024, at least 100 people with SCN1B-related syndrome have been described in medical research.
Support Resources
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- Simons Searchlight Community – SCN1B Facebook group
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 SCN1B.
Research Article Summaries
We currently do not have any article summaries for SCN1B, but we add resources to our website as they become available.
The information available about SCN1B 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 SCN1B articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about SCN1B genetic changes by taking part in our research. You can learn more about the project and sign up here.