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The anti-seizure effect of cannabidiol in Dravet syndrome is dependent on the type of neurons upon which it acts, but not on the activity of sodium channels, a study finds. The findings of the study, “Investigating the Therapeutic Mechanism of Cannabidiol in a Human Induced Pluripotent Stem…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Potassium bromide (KBr) can control certain types of epileptic seizures and should be considered as an option for the treatment of children with refractory epilepsy, a study says. The findings of the study, “Potassium Bromide in the Treatment of Pediatric Refractory Epilepsy,” were published in the…

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.