Illuminating Advances in the Pharmacological Treatment of Dravet Syndrome

By Dr Nicola Davies

For Dravet Syndrome Awareness Month (June), we explore advances in pharmacological treatments for this rare, drug-resistant epilepsy that is characterized by prolonged seizures and fevers that affect one side of the body.1

The worldwide prevalence of Dravet Syndrome (DS) is estimated to be 1:15,000-45,000, with the first symptoms often appearing in the first year of life.1 In the USA, DS affects 1 in 15,700 individuals – that’s about 0.0064% of the population.2 Approximately 80%-90% of those individuals have a mutation on the SCN1A gene and have been clinically diagnosed with DS.2 Different types of mutations – missense, deletion, frameshift – have been associated with the condition, and 90% of the mutations in children are not inherited from a parent.1,2 Children with DS often present with progressive cognitive impairment, with 86% of patients showing signs of intellectual deficiency and autism spectrum disorder being diagnosed in 31% of cases.1