A new mutation associated with Dravet syndrome was identified in an Iranian family with suspected disease, according to case report. The study, “Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: improving diagnosis with targeted sequencing for variants by in silico analysis,” was published in Clinical Neurology and Neurosurgery.
A phenomenon known as “genetic mosaicism” may contribute to milder symptoms in people with Dravet syndrome and related disorders, a new study shows. The study, “Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes,” was published in the journal…
ZX008, an experimental therapy for Dravet syndrome, was found to be well-tolerated and can be administered regardless of food intake, according to clinical results of a study in healthy volunteers. The findings mean that ZX008 likely will be easier to…
Dravet patients have an abnormal inflammatory reaction to vaccines, supporting a potential link between inflammation and epileptic seizures in these patients, according to a small study. The study, “Altered vaccine-induced immunity in children with Dravet syndrome,” was published in the journal Epilepsia. Dravet syndrome is a…
The U.S. Food and Drug Administration has approved Epidiolex to treat Dravet and Lennox-Gastaut syndromes, making history as the first therapy approved to treat Dravet, as well as the first marijuana-derived treatment to receive FDA approval for any indication. GW Pharmaceutical‘s plant-derived cannabinoid medicine was approved to…
Autistic disorders are more frequent in people with Dravet syndrome than those with Lennox-Gastaut syndrome, but the appearance of this disorder in a patient is not linked to intellectual disability, a study reported. The study, “Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome”…
Mutations in a specific gene could be behind adult Dravet syndrome with motor features of Parkinson’s disease, according to case report. The study, “The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment,” was published in the…
A high-fat, low-carbohydrate diet with moderate protein can reduce the frequency of seizures and significantly improve overall health of some children with drug-resistant epileptic syndromes, according to recent research. The study, “Ketogenic diet effects on 52 children with pharmacoresistant epileptic encephalopathy: A clinical prospective study,” was published…
Cannabis-based experimental therapies currently under research, in particular Epidiolex, show significant promise to treat therapy-resistant epilepsy, including Dravet syndrome, according to a recent review. The report “Investigational cannabinoids in seizure disorders, what have we learned thus…
ZX008’s mechanism of action may avoid the side effects caused by other antiepileptic treatments, preclinical research suggests. The potential treatment is also being studied in a series of pivotal clinical trials. A study based on this research, “Fenfluramine diminishes NMDA…
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