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Mutations in the SCN1A gene and epileptic seizures contribute to disease severity in a mouse model of Dravet syndrome, a study reports. The study, “A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies,” was published in Neurobiology of Disease. Dravet syndrome…

Shayne Turpin experienced his first seizure at the age of seven months. His parents were told it was a febrile seizure — an isolated event — that would probably not happen again. But it did, over and over again. Besides experiencing 40 to 50 tonic-clonic, hemiclonic,…

Contrary to what was previously believed, the ketogenic diet — a low-carbohydrate, high-fat diet— did not significantly promote cognition and neuropsychological development in children with Dravet syndrome over time, according to a study. The study, “Efficacy of the ketogenic diet in Chinese children with Dravet syndrome: A focus on…

Families caring for patients with Dravet syndrome experience significant emotional, social, and financial impact, according to a multinational study. This study also found that directs costs from non-seizure-related healthcare use are four times higher than costs directly linked to seizures. High seizure burden was associated with higher healthcare costs as…

GW Pharmaceuticals‘ Epidiolex, the first plant-derived cannabidiol medication to be approved by the U.S. Food and Drug Administration, is effective in significantly reducing the frequency of epileptic seizures as an adjunct therapy in children with Dravet syndrome and Lennox-Gastaut syndrome, a review study shows.

Targeting a specific brain area called the reticular thalamic nucleus may be an effective treatment for non-convulsive seizures in children with Dravet syndrome, according to a mouse study. The study, “Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome,” was published in the journal Cell Reports. Non-convulsive…

Dravet syndrome is associated with a high prevalence of behavioral problems that can severely affect quality of life, compared with the general population or to patients with epilepsy but without this disease, a study reveals. These findings highlight the need for active management and treatment strategies to address such…

A single dose of Stoke Therapeutics’ antisense oligonucleotide, targeting the SCN1A gene, largely eliminated the incidence of seizures as well as sudden unexplained death in epilepsy (SUDEP) cases of mice with Dravet syndrome, a study showed. The most recent preclinical data on Stoke’s targeted augmentation of nuclear gene…

Distinct mutations in the SCN1A gene are associated with different degrees of impairment in specific brain nerve cells as well as symptom severity in people with Dravet syndrome, according to a recent study. The research, “Differential effects on sodium current impairments by distinct SCN1A mutations in…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…