AUTISM & SCN2A

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: www.simonsvipconnect.org/information-resources/what-is-autism.html

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
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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.

Read More
  • Aug
  • 9
  • 2017
  • By Bahar Gholipour
...

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
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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
...

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

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

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.

Donate

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

Raise Funds

Sign up with Amazon Smiles and iGive, automated programs that donate a portion of online sales to charity.

FirstGiving

Set up your own ‘First Giving’ page through the foundation to collect online donations.

Have a Party!

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!