Below is a summary for the SCN8A gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is SCN8A-related syndrome?
SCN8A-related syndrome happens when there are changes to the SCN8A gene. These changes can keep the gene from working as it should.
The SCN8A gene produces a protein that sits on 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 SCN8A gene is important in the growth and function of brain cells, many people who have SCN8A-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism spectrum disorder or features of autism
- Movement problems
- Concerns with sleep
Do people who have SCN8A-related syndrome look different?
People who have SCN8A-related syndrome generally don’t look very different. In one study, 3 out of 22 people had small heads.
How many people have SCN8A-related syndrome?
As of 2019, more than 100 people in the world with changes in the SCN8A gene had been described in the medical literature.
Research Article Summaries