Dravet syndrome

Dravet syndrome is a rare form of intractable epilepsy that starts in early childhood.

The first seizure usually occurs between 2 and 15 months of age, on average around 6 months. Eventually (usually in the second or third year of life), developmental delays and other problems are added to the seizures. According to current data, the disease affects about 1 child in 16,000 live births, and the vast majority of those affected have a mutation in the SCN1A gene.

Seizures are often associated with fever, high temperatures or some other trigger (bright or flashing light, visual patterns, etc.). They are usually long and difficult to stop and often resist medication. Treatment options are limited, but fortunately, in Slovenia we have access to all the latest medicines. Patients are also at risk of sudden unexpected death in epilepsy (SUDEP). Status epilepticus (very long seizures) is common in the first years of life, but becomes less frequent over time. A number of clinical trials are currently underway searching for new drugs.

Genetic and ASO therapies are also currently being developed. Parents are hopeful about the development of these drugs, as we believe that they will have a significant impact on the future course of the disease.