SCN1A stands for sodium voltage-gated channel alpha subunit 1 and the gene that encodes this channel is part of a family of genes that provides instructions to make sodium channels, which are essential in cellular signaling. SCN1A in particular encodes a sodium channel called NaV1.1 which is found in the brain. 

During this past school year, I spent a lot of my free time helping out at the Nobis Lab at Vanderbilt, which studies Sudden Unexpected Death in Epilepsy, or SUDEP, in mice models. Some of our models included mice that had Dravet Syndrome, a genetic disorder that causes a severe form of epilepsy. SCN1A happens to be one of those genes that has a loss of function in Dravet Syndrome, contributing to the severity of the seizures. 

What interests me is that SCN1A has implications in Dravet Syndrome that go hand in hand with Autism Spectrum Disorder (ASD). In fact, more than half of people with Dravet Syndrome have characteristics similar to those found in individuals with ASD, indicating some sort of genetic connection. 

A loss-of-function mutation in SCN1A can reduce the activity of hippocampal interneurons and cerebellar purkinje cells in the forebrain. The cerebellum and hippocampus are highly implicated in ASD-like behavior so this makes sense. One team at the University of Washington in Seattle believes that stimulating GABA cells, which are usually less active in the loss-of function mutation, could possibly reverse ASD behaviors. They believe that failure of GABA signaling, due to the lack of SCN1A activity, is responsible for the autistic deficits as well as severity of epilepsy. Clonazepam, a traditional drug for Dravet Syndrome, was proposed to target this issue. Since the publication of this article over 10 years ago, it’s safe to say that clonazepam has been researched more for autism treatment but the research still persists regarding safety and activity with other medications. I want to repeat this. A medication used for epilepsy in Dravet Syndrome can possibly be used to treat autism.

Again, science continues to leave me in awe that it has endless connections to all kinds of conditions that seem to have no similarities but really are not that genetically different.