Welcome to The FamilieSCN2A Foundation
The global leader in SCN2A-related autism & epilepsy research, advocacy, and community.
rare genetic disorder support
Here you will find the world’s largest SCN2A community and the most complete body of research and information on SCN2A-Related Disorders (SRD).
Most rare diseases do not have a cure — however, recent progress in precision medicine, drug repurposing, and gene therapy are offering hope for treating these types of disorders. Our mission is to accelerate this work.
Connect with us
scn2a gene mutation research family resources for scn2a syndrome scn2a mutation donate to scn2a foundation scn2a awareness and advocacy scn2a autism
Discover the difference families make.
families connected in
research dollars granted
papers published
conferences hosted
A decade ago an SCN2A diagnosis meant accepting that you were alone and that no one was even studying it. Today, SRDs are at the forefront of scientific research and supported by a global community.
Newly Diagnosed?
scn2a epilepsy
What are SCN2A-Related Disorders (SRDs)?
SCN2A is the name of a gene that is commonly associated with early-onset epilepsy and is a leading genetic cause of autism spectrum disorder.

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 Quick Fact Sheets
News & Updates
Our Community
The FamilieSCN2A Foundation’s mission is to accelerate research, build community, and advocate to improve the lives of ALL those affected by SRDs around the world.
We are a registered 501(c)(3) organization.
scn2a foundation