SCN1A and Dravet Syndrome

More than 85% of children and adults diagnosed with Dravet Syndrome have a mutation in a gene known as SCN1A

The SCN1A gene (short for sodium channel alpha 1 subunit) contains instructions (or code) for the creation of an important type of protein in the brain, known as a sodium ion channel. The movement of sodium ions in and out of nerve cells helps to control electrical messages in the brain.

Each person has two copies of the SCN1A gene: one from each parent. Many mutations found in Dravet Syndrome prevent one of these two copies from working as it should, leaving only one functional copy. 

If one of the SCN1A copies is not functioning, one consequence may be that not enough ion channel protein is being made. If there is not enough of the ion channel protein, it cannot fulfil its task. The resulting faulty ion channel may cause the person with the SCN1A mutation to experience seizures and a variety of other conditions.

Fast facts about SCN1A and Dravet Syndrome

Connecting genetic knowledge with clinical care

Researchers are currently learning a great deal more about the role SCN1A mutations play in Dravet Syndrome and related epilepsies. At DSUK, we are privileged to have two of the neurologists at the forefront SCN1A research as members of our Medical Advisory Board - Professor Sameer Zuberi and Professor Andreas Brunklaus, both based at the Royal Hospital for Children in Glasgow. 

Professors Zuberi and Brunklaus are involved in scientific research about the genetics of the sodium ion channel and epilepsy-related conditions such as Dravet Syndrome. They also see patients with these conditions as part of their daily clinical work at the Royal Hospital for Children in Glasgow.

In the video below, Professor Zuberi talks about the clinical benefits of SCN1A testing and how our increasing knowledge about SCN1A is improving the lives of people with Dravet Syndrome, both now and in the future. 

Benefits of testing for SCN1A

Many thanks to our Medical Advisory Board member, Andreas Brunklaus, for his assistance in co-authoring this section of the DSUK website.