Characteristics and clinical features:

Mutations in SCN2A have been linked to autism, intellectual disability, severe childhood epilepsy and schizophrenia. SCN2A mutations in people with epilepsy tend to be different than in those with autism.

Biology:

SCN2A is located on chromosome 2 and encodes a sodium channel, a gate in brain cells that allows sodium in and out of the cell. Scientists don’t yet know why some mutations in the gene lead to autism. But they speculate that these mutations might lead to problems with the way brain cells talk to teach other.

History:

SCN2A has long been linked to epilepsy and was first tied to autism in 2003. As of December 2016, there were 24 known cases of SCN2-linked autism.

Additional resources:

• Simons VIP on SCN2A
• Simons VIP SCN2A Facebook page
• FamilySCN2A, an organization for families with SCN2A
• SFARI GENE entry on SCN2A

News stories from Spectrum:

• Sodium channel gene takes diverging paths in autism, epilepsy

Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorially independent.