Joana Carvalho, PhD, managing science editor —

Diacomit (stiripentol) add-on therapy is more effective in children with Dravet syndrome who have pathogenic (disease-causing) SCN1A mutations than in those with variants of unknown significance and benign SCN1A mutations, a study has found. The study, “Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations,” were…

For the first time, researchers have described a dysfunction in the brain’s GABAergic system that could increase the frequency and severity of epileptic seizures in patients with Dravet syndrome. The findings also highlight the therapeutic potential of cannabis derivatives, including cannabidiol, that are able to target GABAA receptors and…

For the first time, positron emission tomography (PET) scans revealed a significant decrease in the amount of glucose uptake in the brains of children with Dravet syndrome. Interestingly, this reduction was more evident in older children. However, it is still unclear if the reduction in glucose uptake is a…

Researchers found that patients with Dravet syndrome are at higher risk of suffering sudden unexpected death in epilepsy (SUDEP) due to genetic mutations in the SCN1A gene that predispose them to heart arrhythmias. University of Michigan Medical School investigators now plan to look at the potential use of already approved…

Early diagnosis followed by treatment with anti-epileptic medications reduced the frequency of seizures and behavioral problems in three children with both Dravet syndrome and autism spectrum disorder (ASD), a study reports. The study, “Epileptic Encephalopathy and Autism: A Complex Interplay,” was published in the Journal of Pediatric…