SCN1A
Below is a summary for the SCN1A gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full SCN1A Gene Guide
The online Gene Guide includes more information about SCN1A such as the chance of having another child with this condition, behavior and development concerns linked to SCN1A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is SCN1A-Related Syndrome Syndrome?
SCN1A-related syndrome happens when there are changes to the SCN1A gene. These changes can keep the gene from working as it should.
SCN1A-related syndrome is also called Dravet Syndrome.
Key Role
The SCN1A gene produces a protein that sits in the surface of brain cells and allows sodium to enter the cell. This protein is important for brain cells to make and transmit signals between cells. The protein is essential for these brain cells to work properly.
Symptoms
Because the SCN1A gene is important in the development and function of brain
cells, many people who have SCN1A-related syndrome have:
- Epilepsy
- Developmental delay and/or intellectual disability
- Autism spectrum disorder or autistic features
- Movement problems
- Concerns with sleep
How many people have SCN1A-related syndrome?
SCN1A-related syndrome occurs in 1 in 20,900 births. The first case of SCN1A- related syndrome was described in 2000. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – SCN1A Facebook group
- Dravet Syndrome Foundation website – dravetfoundation.org
– Dravet Syndrome Foundation – Facebook page
– Dravet Syndrome Foundation – Facebook group - Geisinger Developmental Brain Disorder Gene Database – SCN1A
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.
Check out the GeneReviews for SCN1A.
Research Article Summaries
We currently do not have any article summaries for SCN1A, but we add resources to our website as they become available.
The information available about SCN1A 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 SCN1A 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 SCN1A genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from SCN1A families.
Click here to share your family’s story!