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 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.

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

Do people who have SCN1A-related syndrome look different?

People who have SCN1A-related syndrome generally don’t look physically different.

BRAIN

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.

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Support Resources

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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.

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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.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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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.

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Family Stories

We do not currently have any stories from SCN1A families.

Click here to share your family’s story!