SCN2A

The information for this summary of SCN2A-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full SCN2A Gene Guide

The online Gene Guide includes more information about SCN2A such as the chance of having another child with this condition, behavior and development concerns linked to SCN2A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

SCN2A-related syndrome is also called SCN2A-developmental and epileptic encephalopathy; self-limited neonatal/infantile epilepsy; episodic ataxia, type 9; and SCN2A-related disorder. For this webpage, we will be using the name SCN2A-related syndrome to encompass the wide range of variants observed in the people identified.

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What are SCN2A-related disorders?

SCN2A–related syndrome happens when there are changes in the SCN2A gene. These changes can keep the gene from working as it should.

Key Role

The SCN2A 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 and is essential for brain cells to work properly.

Symptoms

Because SCN2A is important in brain activity, many people who have SCN2A-related syndrome have:

  • Seizures
  • Developmental delay, or intellectual disability, or both
  • Autism or features of autism
  • Movement problems
  • Lower than average muscle tone
  • Gastrointestinal problems
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Eye or vision issues

How many people have SCN2A-related disorders?

As of 2024, about 714 people in the world with changes in the SCN2A gene have been found in a medical clinic. The first case of SCN2A-related syndrome was described in 2002.

Learn more about the SCN2A gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Research Article Summaries

Below, we have summarized research articles about changes in the SCN2A gene. We hope you find this information helpful. The information available about SCN2A is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 SCN2A articles can be found here. You can also visit the Simons Foundation ’s SFARI Gene website to see information for researchers about this gene.

  • Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia Original research article by N. Schwarz et al. (2016). Read the abstract here and the Simons Searchlight summary here.
  • Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion Original research article by N.M. Allen et al. (2016). Read the article here and the Simons Searchlight summary here.
  • De novo SCN2A splice site mutation in a boy with autism spectrum disorder Original case report by T. Tavassoli et al. (2014). Read the report here and the Simons Searchlight summary here.
  • Clinical whole exome sequencing in child neurology practice Original research article by S. Srivastava et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • De novo mutations in the classic epileptic encephalopathies Original research article by Epi4K Consortium et al. (2013). Read the article here and the Simons Searchlight summary here.
  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 Original research article by G.L. Carvill et al. (2013). Read the article here and the Simons Searchlight summary here.
  • Range of genetic muations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study Original research article by Rauch et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • Diagnostic exome sequencing in persons with severe intellectual disability Original research article by J. de Ligt et al. (2012). Read the article here and the Simons Searchlight summary here.

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Research Opportunities

  • Simons Searchlight Help the Simons Searchlight team learn more about SCN2A genetic changes by taking part in our research. You can learn more about the project and sign up here.
  • SCN2A Natural History SCN2A families have the opportunity to join a natural history study of conditions caused by mutations in the SCN2A gene. This study hopes to determine how the symptoms of SCN2A-related conditions change over time and improve the understanding of why the symptoms may differ from person to person. Simons Searchlight has an agreement with this SCN2A natural history study to ensure data is being shared between the two projects. For more information, please email Dr. Katherine Howell at scn2a@mcri.edu.au.
  • TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in SCN2A. Click here to learn more about this opportunity.
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Family Stories

Stories from  SCN2A  families:

Click here to share your family’s story!

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Previous Quarterly Reports