SCN2A

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.

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 articel 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.

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!