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Dravet Syndrome

Dravet Syndrome Gene Mutation Linked to Sudden Unexpected Death in Epilepsy

Approximately half of Dravet syndrome patients experience the morbid outcome of sudden unexpected death in epilepsy (SUDEP). The causes behind SUDEP remain largely unknown, and there are no biomarkers that can be used to predict patients who are at increased risk. Now, investigators from Michigan Medicine have found that the high risk for SUDEP in patients with Dravet syndrome may be from a predisposition to cardiac arrhythmias and seizures caused by de novo variants in the SCN1A gene. Many patients with Dravet syndrome carry de novo variants in SCN1A that result in haploinsufficiency for the voltage-gated sodium channel (VGSC) Nav1.1. Because SCN1A is expressed in the heart and the brain, the investigators postulated that alterations in “cardiac excitability” could contribute to the mecha...

Heart abnormalities may trigger sudden unexplained death in epilepsy

New stem cell research reveals dangerous cardiac effects of a gene mutation in patients with Dravet syndrome Patients with a rare disease called Dravet syndrome are at heightened risk for sudden unexplained death in epilepsy. Researchers are using stem cells to identify the effects of a gene mutation on the heart, which may lead to fatal arrhythmias. Imagine putting your child to bed, only to have them pass away inexplicably in their sleep. This is the chilling reality for many victims of sudden unexpected death in epilepsy, or SUDEP — which claims the lives of 1 in every 1,000 people with epilepsy or other seizure disorders. Patients with a rare disease called Dravet syndrome are at heightened risk for SUDEP. In the disease, seemingly healthy infants develop frequent and prolonged s...

FDA Approves Stiripentol for Dravet Syndrome Seizures

The US Food and Drug Administration today approved stiripentol (Diacomit) for the treatment of seizures associated with Dravet syndrome epilepsy. This is just the second approved form of treatment specifically for patients with Dravet syndrome. The drug is approved for use in patients 2 years of age and older who are taking clobazam. Stiripentol is not supported by clinical data for use as a monotherapy option for Dravet syndrome. Stiripentol is available in capsules to be taken orally, or in powder form for oral suspension. The daily dosage is 50mg/kg/day taken in 2 or 3 divided doses (16.67 mg/kg three times daily or 25 mg/kg twice daily). Capsules should be swallowed whole with water during a meal. The powder form should be mixed in water and taken immediately after a meal. Data from tw...

Spider venom strikes a blow against childhood epilepsy

A devastating form of childhood epilepsy that is resistant to traditional drugs may have met its match in spider venom. Researchers from The University of Queensland and the Florey Institute of Neuroscience and Mental Health discovered that a peptide in spider venom can restore the neural deficiencies that trigger seizures associated with Dravet syndrome. UQ Institute for Molecular Bioscience (IMB) Professor Glenn King said the study in mice could be an important step towards better therapeutic strategies for the rare and life-threatening type of epilepsy developed by children in their first year of life.

Zogenix to submit anti-seizure drug (for Dravet) for approval after clinical trial confirms benefit

Zogenix has confirmed the efficacy of its experimental epilepsy drug in a second, late-stage clinical trial, paving the way for a marketing submission by the end of the year. The small biotech company, based in Emeryville, Calif., said its lead drug, ZX008, reduced by more than half the average monthly convulsive seizures compared with a placebo in children and teenagers with Dravet syndrome, a rare and severe type of epilepsy.

Treatments for Dravet Syndrome

Dravet syndrome is a very rare type of epilepsy that causes frequent and severe seizures, often beginning in the first year of life. While there is currently no definitive cure for Dravet syndrome, there are treatments available to reduce the number of seizures that can help make the condition more manageable.

What Is Dravet Syndrome?

Dravet syndrome is a severe type of childhood epilepsy characterized by prolonged seizures that begin in the first year of life. It is a rare condition that affects one in 20,000 to 40,000 people worldwide.

Cannabidiol reduces seizures in treatment-resistant epilepsy

Cannabidiol is an effective and generally well-tolerated add-on treatment for drop seizures in patients with Lennox-Gastaut syndrome, according to research published in The Lancet. “Patients with Lennox-Gastaut syndrome, a rare, severe form of epileptic encephalopathy, are frequently treatment resistant to available medications,” Elizabeth A. Thiele, MD, from the pediatric epilepsy program at Massachusetts General Hospital, and colleagues wrote. “No controlled studies have investigated the use of cannabidiol for patients with seizures associated with Lennox-Gastaut syndrome.”

Old Weight-Loss Drug Cuts Seizures in Dravet Syndrome

A drug that has previously been used as a weight-loss agent dramatically reduces seizures in young patients with Dravet syndrome (DS), new research shows.   A new phase 3 study showed that compared with patients taking placebo, those taking low-dose fenfluramine (ZX008, Zogenix) experienced a statistically significant reduction in convulsive seizure frequency.   “The study showed a really significant and clinically meaningful decrease in seizure frequency. In about 70% of patients taking fenfluramine, the number of seizures per month went from about 40 to one or two per month,” lead author Lieven Lagae, MD, PhD, professor, University of Leuven, Belgium, head of the Pediatric Neurology Department, and director of the Childhood Epilepsy Program at the University of Leuv...

Funnel web spiders’ ‘beautiful molecules’ show promise for treating epilepsy, stroke

Several new Australian-developed medicines showing promise treating childhood epilepsy, stroke and autoimmune diseases have emerged from an unusual source: the fangs of venomous creatures. Big pharmaceutical companies are excited by results showing these new venom-drugs are often superior to man-made drugs, and they are starting to pour money into research.

High Seizure Frequency in Children with Dravet Syndrome Negatively Impacts Quality of Life, New International Caregiver Survey Finds

Global survey of 584 caregivers of children, young adults and adults with Dravet illustrates the detrimental effect of debilitating, frequent seizures on quality of life and co-morbidities:  Results suggest a need for more effective antiepileptic treatments.   The Dravet Syndrome European Federation and Zogenix, Inc. (NASDAQ:ZGNX), a pharmaceutical company developing therapies for the treatment of rare central nervous system (CNS) disorders, announced today the publication of the initial results from a landmark survey into the clinical, social and economic consequences of Dravet syndrome on children, young adults and their families in Developmental Medicine & Child Neurology.

Interim Survey Results Demonstrate Impact on Siblings of Children Suffering from Severe Epilepsy

“In a recently conducted survey by the Dravet Syndrome Foundation, 74 percent of caregivers expressed concerns about the emotional impact on siblings of children with Dravet syndrome, and the interim results from the Sibling Voices Survey are a significant advancement in our understanding of the far-reaching implications that severe childhood epilepsies have on the lives of siblings and loved ones,” said Nicole Villas, President & Scientific Director of the Dravet Syndrome Foundation Board of Directors.  “We are optimistic that the insights gained from the Sibling Voices Survey will assist in the development of tools to help families, and we are grateful for Zogenix’s dedication to addressing the unmet needs of this patient community.”

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