Below is a summary for the SCN2A 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.
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What is SCN2A-related syndrome?
SCN2A-related syndrome happens when there are changes to the SCN2A gene. These changes can keep the gene from working as it should.
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. The protein is essential for these brain cells to work properly.
Because the SCN2A gene is important in the development and function of brain cells, many people who have SCN2A-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism or features of autism
- Movement problems
- Low muscle tone
- Gastrointestinal problems
Do people who have SCN2A-related syndrome look different?
People who have SCN2A-related syndrome generally don’t look different.
How many people have SCN2A-related syndrome?
As of 2019, about 200 people in the world with changes in the SCN2A gene have been described in medical research. The first case of SCN2A-related syndrome was described in 2002. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
How is SCN2A-related syndrome treated?
Epilepsy is common in people who have SCN2A-related syndrome. In some cases, seizures that are linked to SCN2A-related conditions cannot be controlled. But, for infants whose seizures begin before 3 months of age, a class of medication known as sodium channel blockers, such as phenytoin and carbamazepine, may be helpful (Wolff et al., 2017). Note that this is the opposite of best practice guidelines for neonatal seizures. Children who have autism and developmental delay whose seizures begin after 12 months of age respond best to a different set of medications, including levetiracetam, benzodiazepines, and valproate.
Seizures are common: About 15 percent of people who have the syndrome have benign infantile seizures. More than one-third have early infantile onset epilepsy. Less than 10 percent have epilepsy with unknown age of onset.
DEVELOPMENT and BEHAVIOR
Sixteen percent of people who have the syndrome have autism or intellectual disability without seizures.
- Simons Searchlight Community – SCN2A Facebook group
- FamilieSCN2A Foundation
- FamiliesSCN2A – SCN2A.org
- FamiliesSCN2A – Facebook page
- FamiliesSCN2A – Facebook community discussion group
- SCN2A Australia
- SCN2A Australia – SCN2Aaustralia.org
- SCN2A Australia – Facebook page
- SCN2A Australia, NZ and Asia – Twitter
- SCN2A Europe
- CN2A Europe – scn2a.eu
- SCN2A Europe – Facebook page
- SCN2A Europe – Twitter
- Unique – SCN2A Guidebook
- Geisinger Developmental Brain Disorder Gene Database – SCN2A
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.
- 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 firstname.lastname@example.org.
- 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.