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.

 

Source: Beyond the Ion Channel The ILAE Genetics Commission Blog