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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...

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...

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.

Orphan Drug Designation From the U.S. FDA for EPX-100 and EPX-200 in the Treatment of Patients With Dravet Syndrome

The U.S. Food and Drug Administration has granted Orphan Drug Designation to EPX-100 and EPX-200 for the treatment of patients with Dravet syndrome. Dravet Syndrome qualifies as a rare pediatric disease under Section 529 of Food, Drug, and Cosmetic Act. The rare, catastrophic, lifelong form of epilepsy begins in the first year of life with frequent or prolonged seizures. Intellectual disability, behavioral abnormalities, gait and motor dysfunction, and increased mortality are commonly observed as the disease progresses. Patients with Dravet Syndrome also suffer with life-threatening seizures that cannot be adequately controlled by available medications, and face a 15-20 percent mortality rate due to SUDEP (Sudden Unexplained Death in Epilepsy), seizure-related accidents such as drowning, o...

Interview With A Neurologist: UNDERSTANDING CAUSES OF SUDEP

What is sudden unexpected death in epilepsy (SUDEP)? Currently, the accepted definition of SUDEP is the sudden unexpected witnessed or unwitnessed, non-traumatic and non-drowning death in people with epilepsy, with or without evidence of a seizure. It doesn’t necessarily have to be in the known context of a seizure, excluding documented status epilepticus, where people have seizure after seizure. Typically, what happens is that someone who’s known to have epilepsy is found to have died without any obvious explanation as to why. Even a post-mortem examination doesn’t reveal a structural or toxicological cause of death. It may or may not be known whether a seizure had occurred and no other cause of death has been identified.

Reduction of “Tau” Protein in the Brain Blocks Development of Dravet Syndrome

In this article posted on Medical Express, research is presented that supports a theory that reducing brain levels of tau protein can effectively block the development of Dravet Syndrome in lab-mouse studies. The treatment not only suppressed seizure activity and prolonged life, but also improved abnormal behavior and cognition that can accompany the syndrome. Excerpt: Previous studies from this group have shown that lowering tau levels reduces abnormal brain activity in models of Alzheimer’s disease, but this is the first demonstration that tau reduction may also be beneficial in intractable genetic epilepsy. “It would really be wonderful if tau reduction turned out to be useful not only in Alzheimer’s disease, but also in other disabling neurological conditions for whic...

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