scn2a and autism
scn2a mutation
rare forms of autism

Research has shown genetic changes of the SCN2A gene are linked to a diagnosed of Autism. Studies have discovered de novo mutations in SCN2A are linked to neurodevelopmental phenotypes which include: intellectual disability, autism, and schizophrenia.


The FamilieSCN2A Foundation has partnered with Simons VIP because of their desire to study the genetic changes of SCN2A that cause both Autism and Epilepsy. Here is how Simons VIP describes Autism and what it is:

"Autism" is more commonly called "Autism spectrum disorder (ASD),"because we find a range of differences in people. ASD is a developmental disability that is caused by differences in the way the brain functions.

*Content taken directly from:

Has your child been diagnosed with Autism as a result of a genetic change in the SCN2A gene?

We encourage you to register through our partners Simons VIP to help us further understand this form of Autism and how we can work towards progressive treatments.

Register Here
gene for autism

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

Haploinsufficiency in the gene SCN2A, which encodes the sodium channel NaV1.2, has strong autism association. Spratt et al. show that SCN2A ...

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  • June
  • 20
  • 2019
scn2a foundation

Microbiota Transfer Therapy alters gut ecosystem & improves gastrointestinal and autism symptoms: an open-label study

Autism spectrum disorders (ASD) are complex neurobiological disorders that impair social interactions and communication and lead ...

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  • Jan
  • 23
  • 2017
  • Kang et al. Microbiome (2017) 5:10
    DOI 10.1186/s40168-016-0225-7
scn2a mutation

Scan of ‘missense’ mutations marks new suspects for autism risk

A large study of minute mutations in people with developmental conditions, including autism, has uncovered 200 potential risk genes.

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  • Aug
  • 9
  • 2017
  • By Bahar Gholipour
familiescn2a foundation

Family groups play key role in advancing autism research

As genetic testing for autism and related conditions of brain development becomes more common, parents are increasingly receiving specific genetic diagnoses for their children.

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  • Jun
  • 27
  • 2017
  • By Stephan J. Sanders; Assistant professor, University of California, San Francisco
families scn2a

Top Autism Gene May Alter Sensory Perception

An unusual brain response to sound may distinguish children with mutations in SCN2A, a leading candidate gene for autism.

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  • May
  • 13
  • 2017
  • By Jessica Wright
scn2a gene

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A

Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel NaV1.2 are important risk factors for autism spectrum disorder (ASD) ....

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  • Jan
  • 27
  • 2017
  • By Roy Ben-Shalom, Caroline M. Keeshen, Kiara N. Berrios, Joon Y. An, Stephan J. Sanders, and Kevin J. Bender

Ways To Contribute

scn2a gene

Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.


FUNdraising is not only about money, it also raises public awareness of SCN2A and the issues around rare diseases in general.

Raise Awareness

Share your story with friends and family, in private and/or through social media. Share our website with them.


Make a tax deductible donation directly to the FamileSCN2A Foundation to be used for raising awareness, research and supporting families

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There are many direct sales vendors who would be happy to do a fundraiser for you.

Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!