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Scientists have found a new genetic mutation in the SCN1A gene associated with Dravet syndrome, a case report says. The genetic variant was described in the study, “A novel variant in SCN1A gene associated with Dravet syndrome,” published in Seizure: European Journal of Epilepsy. Dravet syndrome…

Treatment with AZD7325, a compound that stimulates the activity of a specific type of receptors in the brain, has a seizure-protective effect in a mouse model of Dravet syndrome, a study has found. The study, “Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Inhibition of an enzyme in the “powerhouses” of cells from the hippocampus can prevent seizures in mice with intractable Dravet syndrome, a study found. This discovery may pave the way for the development of therapies that could effectively reduce brain cells’ hyperactivity, known to increase susceptibility to seizures and…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

GW Pharmaceuticals‘ Epidiolex, the first plant-derived cannabidiol (CBD) medication to be approved by the U.S. Food and Drug Administration (FDA), reduces the frequency of epileptic seizures when used as an add-on therapy in children with Dravet syndrome, a Phase 3 clinical trial shows.

Sudden unexpected death in epilepsy (SUDEP) occurs more frequently during early evening and is significantly prevented by prolonged use of the ketogenic diet, research in a mouse model of Dravet syndrome (DS) suggests. The reasons why this happens are unclear, and should be examined in more depth by future studies, but…

Compared with its competitors, Diacomit (stiripentol) remains in the top position as an add-on therapy to control epileptic seizures in young children with Dravet syndrome, or in those who are affected by repeated and prolonged seizures, according to an expert review study. The study, “Stiripentol for the…

The U.S. Food and Drug Administration (FDA) refused the New Drug Application (NDA) for Fintepla (ZX008), Zogenix‘s investigational anti-seizure therapy for patients with Dravet syndrome. According to statements from the FDA, the Refusal to File (RTF) letter was issued because the NDA submitted by Zogenix…

A wide variety of gait alterations have been reported for patients with Dravet syndrome, but the most common seems to be the crouch gait, a posture in which patients are unable to maintain an upright posture while walking, a review study has found. The study, “Gait deviations in…