» SCN2A Explained

The SCN2A gene is located on the long (q) arm of chromosome 2 at position 24.3. SCN2A encodes instructions to make a protein in the brain called a sodium channel which plays a key role in a cell’s ability to generate and transmit electrical signals. Pathogenic variants that affect the SCN2A sodium channel impair the flow of sodium ions in the brain. When there is a deletion or mutation of this gene it has been identified to cause autism, epilepsy, and other neurological issues such as movement disorders, dystonia, and dysautonomia.

scn2a mutation

Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability.SCN2A encodes the neuronal sodium channel NaV1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms. The well-defined function of sodium channelsmakesSCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally. Here, we discuss the progress made, through the concerted efforts of a diverse group of academic and industry scientists as well as policy advocates, in understanding and treating SCN2A-related disorders.

Source: Progress in Understanding and Treating SCN2A-Mediated Disorders

» What are SCN2A-related Disorders?

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» Genetics & Physiology of SCN2A

scn2a genereviews

SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay. SCN2A encodes a neuronal voltage gated sodium channel, NaV1.2 that is primarily found in excitatory neurons throughout the brain. In this webinar, Drs. Kevin Bender and Stephan Sanders will detail recent advances in our understanding of how different mutations in SCN2A contribute to the different forms of epilepsy, including benign infantile seizure and epileptic encephalopathy, and how these mutations contrast with those that contribute to autism. We will further discuss how the distribution of NaV1.2 within neurons develops over the first few years of life, and how these changes affect neuronal function. This development has important implications for understanding these disorders and in designing potential therapies in the future.

 SCN2A Variant Browser  Webinar Paper

» SCN2A Resources

Map Your SCN2A Variant

This visual tool allows you to populate the SCN2A protein or nucleotide change inorder to map where the location of the variant is on the gene.

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SCN2A Printable Brochure

The FamilieSCN2A printable and downloadable brochure.

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FamilieSCN2A Resources

FamilieSCNA Foundation has put together a Live Binder of resources which include articles, information on diagnosis related to SCN2A, blog site and more. We update Live Binder with information that is posted in our private FaceBook group, as well as in our newsletters.

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Join Us On Facebook

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

If you are a Facebook users please join us on our private Facebook page where you can virtually connect with other parents and caregivers of children with SCN2A. Once you have been added to the group, we ask you post your child's specific variant. This helps others see if their child has the same diagnosis as yours and also allows us to collect data for further research in the hope to find a cure.

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Current Research

If you are interested in participating in research to help find treatments and a cure for SCN2A, please review the current research projects. These projects help get us closer to understanding this complex sodium ion channel disorder and closer to improving treatments and finding a cure. Participation is completely voluntary for anyone who has been diagnosed with a change in their SCN2A gene.

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» SCN2A Publications

Connect / Support / Research

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