SCN2A in benign seizures, autism and epileptic encephalopathyRead 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.
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.
» 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.
» 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 Yours
SCN2A Printable Brochure
The FamilieSCN2A printable and downloadable brochure.Download PDF File
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 Here
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.Let's Get Social
If you are interested in participating in research to help find treatment and a cure for SCN2A, please review the current research projects we have in place. These projects help get us closer to understanding this complex sodium channel disorder and closer to improving treatment and finding a cure. Participation is completely voluntary for anyone who has been diagnosed with an SCN2A gene mutation, deletion, or replication.View Research
Put 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