Fact 8: Understanding the Genetic Basis of Dravet Syndrome (SMEI)
The primary genetic basis of Dravet Syndrome is a mutation in the SCN1A gene. This gene is responsible for encoding a part of the sodium channel in the brain’s neurons. Any dysfunction in this channel can lead to seizures and other symptoms of Dravet Syndrome.
In most cases, the mutation causing Dravet Syndrome is spontaneous, meaning it occurs randomly without a family history of the disorder. However, in some instances, it can be inherited, and genetic counseling might be needed to understand the risks.
Genetic testing is essential for the proper diagnosis of Dravet Syndrome. Identifying the specific mutation not only confirms the diagnosis but also guides the medical professionals in selecting the most effective treatments and interventions.
For families with a known SCN1A mutation, future family planning might include genetic counseling. Understanding the risks and implications can help families make informed decisions regarding childbearing and the potential for future children to inherit the condition.(8)
