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.
SCN2A is one of the most common causes of neurodevelopmental disease. Phenotypes include BFNIS, autism/intellectual disability/schizophrenia, infantile spasms progressing to epileptic encephalopathy and severe early-onset epileptic encephalopathy. Movement disorders seem to be common in patients with epileptic encephalopathy. SCN2A encodes an alpha subunit in a voltage-gated sodium channel and is pivotal for neuronal signalling. However, functional aspects remain to be elucidated and there is currently no good mouse model available. Some recurrent mutations exist within the encephalopathy spectrum, and displays a kind of genotype-phenotype correlation.
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.
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.
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.
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.
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.
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.