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 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 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.
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
Do people who have SCN1A-related syndrome look different?
People who have SCN1A-related syndrome generally don’t look physically different.
Almost everyone who has SCN1A-related syndrome has seizures. The seizures fall into different categories including Dravet syndrome, generalized epilepsy with febrile seizures (GEFS+), and febrile seizures.
BEHAVIOR and DEVELOPMENT
Almost half of people who have Dravet syndrome have behavior problems. This is less common in people who have SCN1A-related disorder but do not have Dravet syndrome.
Research Article Summaries