SCN2A Explained
The SCN2A gene helps regulate neuronal excitability, support brain development, and contribute to learning and memory.
What is the Function of the SCN2A Gene?
The SCN2A gene, situated on chromosome 2 (illustrated below), provides instructions for creating a sodium channel protein vital for brain cell communication. Pathogenic variants in SCN2A disrupt sodium ion flow, impairing brain function. Variants and deletions of this gene have been linked to autism, epilepsy, intellectual disability, movement disorders, dystonia, and dysautonomia.
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 a neuronal sodium channel called NaV1.2. There is a strong correlation between genotype (the variant) and phenotype (the presentation of the disease). This insight can help guide therapeutic decisions and raises the possibility that proper treatment may improve symptoms. The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally.
Adapted from 'Progress in Understanding and Treating SCN2A-Mediated Disorders, 'Trends in Neuroscience' 2018.
Cambridge Elements: SCN2A-Related Disorders
This 2024 publication is a comprehensive report on the progress made, through the concerted efforts of a diverse group of academic and industry scientists as well as patient advocates, in understanding and treating SCN2A-related disorders. Edited by Alfred L. George, Jr.
The FamilieSCN2A Foundation is committed to open access and has made it possible for everyone to read the online version free of charge. Printed paperback copies are available on Amazon.com for ~$21.00.
What Are SCN2A-Related Disorders?
This brief video, created by the Lal Research Group, provides an introduction to the genetics, sodium channel function, symptoms, and basic treatment options for SRDs.
Once you have watched, visit the SCN Portal to learn more about specific SCN2A variants.
Key Publications
Newly Diagnosed?
You are not alone. Here you will find the world's largest SCN2A community and the most complete body and research and information on SCN2A-related disorders (SRD). Whether you have a newborn with epilepsy or are an adult with autism, we welcome ALL those with SRDs. We are glad you found us.