Below is a summary for the SCN1A gene observed in research publications. This is not meant to take the place of medical advice.
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.
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.
Because the SCN1A gene is important in the development and function of brain
cells, many people who have SCN1A-related syndrome have:
- 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.
Research Article Summaries