SCN8A

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.

Key Role

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.

Symptoms

Because the SCN8A gene is important in the growth and function of brain cells, many people who have SCN8A-related syndrome have:

Epilepsy
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.

BRAIN

Many people who have SCN8A-related syndrome have seizures.

MOTOR

14 out of 22 of those who had seizures that began in childhood also had motor conditions such as dystonia or dyskinesia.

BEHAVIOR

Almost everyone who has SCN8A-related syndrome has intellectual disability. Some have autism or features of autism.

Support Resources

Simons Searchlight Community – SCN8A Facebook group
The Cute Syndrome Foundation website (SCN8A) – TheCuteSyndrome.com
– The Cute Syndrome Foundation – Facebook page
Wishes for Elliot: Advancing SCN8A Research – WishesforElliot.com
SCN8A.net – scn8a.net
Geisinger Developmental Brain Disorder Gene Database – SCN8A

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 SCN8A.

Research Article Summaries

We currently do not have any article summaries for SCN8A, but we add resources to our website as they become available.

The information available about SCN8A 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 SCN8A 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 SCN8A 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 SCN8A families.

Click here to share your family’s story!