We identified a novel de novo SCN2A variant (M1879T) associated with infantile-onset epilepsy that responded dramatically to sodium channel blocker antiepileptic drugs. We analyzed the functional and pharmacological consequences of this variant to establish pathogenicity, and to correlate genotype with phenotype and clinical drug response.
Read More» SCN2A Explained
Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha subunit. This gene has been identified to cause autism, epilepsy and other neurological issues like dystonia and dsyautonomia when there is a deletion or mutation of this gene.
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
» Basics of SCN2A
Dennis Lal, Stanley Center for Psychiatric Research at the Broad Institute of Harvard and M.I.T. gives and overview about the current knowledge of SCN2A disorders in August 2017.
» Genetics & Physiology of SCN2A
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.
Create YoursSCN2A Printable Brochure
The FamilieSCN2A printable and downloadable brochure.
Download PDF FileFamilieSCN2A 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.
Click HereJoin 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.
Let's Get SocialCurrent 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.
View ResearchPut Your Child On The Map
As the parent of a child with an SCN2A mutation, we ask that you please put yourself and your child "on the map" by reaching out and letting us know you exist (even anonymously, if you prefer). It is one of THE MOST IMPORTANT THINGS YOU CAN DO FOR YOUR CHILD, and it is the only way we will ever be able to advocate for new SCN2A treatments and therapies.
Register Your Child» SCN2A Publications
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Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants
- Posted on Journal of General Physiology |
- Jan 29, 2020
Epileptic encephalopathies are severe forms of infantile-onset epilepsy often complicated by severe neurodevelopmental impairments. Some forms of early-onset epileptic encephalopathy (EOEE) have been associated with variants in SCN2A, which encodes the brain voltage-gated sodium channel NaV1.2.
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PROGRESS IN UNDERSTANDING & TREATING SCN2A-MEDIATED DISORDERS
- Published in Trends in Neurosciences |
- Apr 22, 2018
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, andintellectual disability.SCN2Aencodes 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.
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SCN2A in benign seizures, autism and epileptic encephalopathy
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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
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SCN2a: This is what you need to know A 2016 UPDATE
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BRAIN a journal of neurology published 2017: SCN2A: phenotypes and treatment
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