A gene therapy designed to increase the production of a subunit of the defective sodium channel in Dravet syndrome prolonged the survival, lowered seizures, and partially corrected abnormal behaviors in a mouse model of the disease. The work highlighted not only the potential of this type of genetic approach…
Used in addition to standard treatments, therapeutic hypothermia — based on lowering the body’s temperature — can shorten the duration of long-lasting seizures in drug-resistant forms of epilepsy, including Dravet syndrome, a study finds. The study, “Therapeutic hypothermia for pediatric refractory status epilepticus…
The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…
Epidiolex, the first plant-derived cannabidiol (CBD) medication to be approved by the U.S. Food and Drug Administration (FDA), can reduce premature mortality and alleviate several behavioral deficits in mouse models of Dravet syndrome, according to data from two studies. The results, “…
FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…
Heart abnormalities are unlikely to be the reason behind the high rate of Sudden Unexpected Death in Epilepsy (SUDEP) in people with Dravet syndrome, a new study suggests, though further research is needed. The study, “Cardiac arrhythmias in Dravet syndrome: an observational multicenter study,” was…
While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…
The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…
A newly developed artificial intelligence (AI) system could help expedite the diagnosis of epileptic conditions such as Dravet syndrome. The AI system was described in a study, titled “A propositional AI system for supporting epilepsy diagnosis based on the 2017 epilepsy classification: Illustrated by Dravet syndrome,”…
In addition to promoting the release of serotonin, a brain chemical typically associated with feelings of well-being and happiness, Fintepla (fenfluramine) also seems to control the activity of sigma-1 receptors found on the surface of nerve cells, a study has found. This dual mechanism of action is…
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