Research News - Dravet Syndrome Foundation

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Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome

(Liu et al. 2017. Article in Chinese) In the past several years, careful and sensitive DNA sequencing techniques have revealed that a small but significant percentage of parents of patients with DS who initially test negative for the child\’s mutation are actually mosaic for the mutation. That is, instead of the mutation being present in […]

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Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

Research News / By Nicole Villas

(Yang et al. 2017) Most cases of mosaicism (where a mutation occurred shortly after fertilization and thus not all body cells carry it) found in parents of patients with DS are determined through blood samples. However, because different cells of the body are descended from different types of embryonic cells, the percentage of mutated SCN1A in

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Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome

Research News / By Nicole Villas

(Kaplan, et al. 2017) Parents often report “improved behavior” or “improved cognition” when they initiate cannabidiol (CBD) treatment in their children with Dravet syndrome, with and without improved seizure control. This project sought to measure the effect of CBD on seizure control, autistic-like behaviors, and specific neuron action. They found that when mice were given

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Dravet syndrome and its mimics: Beyond SCN1A

Research News / By Nicole Villas

(Steel D, et al. 2017). In this critical review, the authors examine the literature surrounding each of the genes that have been associated with severe epilepsy syndromes and describe their characteristics and associated symptoms. Although each of these mutations has been found in a small number of patients with DS, with the exception of SCN1A they

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Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1 lab Model of Dravet Syndrome.

Research News / By Nicole Villas

(Grone B, et al. 2017). Anti-epileptic drug (AED) screening in zebrafish has proven efficient in models of Dravet syndrome due to the lower cost of maintaining fish compared with mouse colonies and rapid reproduction rates. The zebrafish used to study Dravet syndrome carry mutations in scn1lab (a zebrafish version of the human SCN1A gene) and are

Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1 lab Model of Dravet Syndrome. Read More »

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Research News / By Nicole Villas

(Sadleir L, et. al 2017). Dravet syndrome is often thought to be at the severe end of a spectrum of SCN1A disorders ranging from relatively mild conditions such as migraines to generalized epilepsy with febrile seizures plus (GEFS+) to DS. Even within the “severe” category of DS, patients can present with a wide degree of

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Read More »

Dravet syndrome: Characteristics, comorbidities, and caregiver concerns

Research News / By Nicole Villas

This article summarizes the various challenges patients with Dravet syndrome and their caregivers face. It is an analysis of an in-depth online survey posted in the DSF support group in 2016 covering comorbid health conditions, characteristics of the syndrome, and the top caregiver concerns. Because it is written in layman\’s terms, it does not need

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Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: A review of its benefit-risk profile in a new patient population

Research News / By Nicole Villas

(Schoonjans AS, et al. 2017). Fenfluramine is currently in a Phase 3 clinical trial for Dravet syndrome sponsored by Zogenix, Inc. While primarily used in the 1980s and 1990s for obesity, there were reports of it reducing seizures in the pediatric epilepsy population. It was withdrawn from the market in 1997 due to reports of

Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: A review of its benefit-risk profile in a new patient population Read More »

Cacna1q is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

Research News / By Nicole Villas

(Calhoun, et al. 2017) There are several different mouse models for Dravet syndrome, and researchers have shown that the same disease-causing mutation can present differently depending on which strain of mouse is used in breeding. This suggests there may be genetic modifiers that influence the severity of Dravet syndrome. The authors of this article had

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Fatal cerebral edema with status epilepticus in children with Dravet syndrome: Report of 5 cases

Research News / By Nicole Villas

(Myers K et al. 2017) Mortality in Dravet syndrome is recognized at 15-20% by adulthood. Approximately half of those deaths are due to SUDEP, while about 1/4 are due to status epilepticus (SE). This study looked closely at that second group, those who died from SE, examining the characteristics of 5 patients from Australia who

Fatal cerebral edema with status epilepticus in children with Dravet syndrome: Report of 5 cases Read More »

Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome

Dravet syndrome and its mimics: Beyond SCN1A

Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1 lab Model of Dravet Syndrome.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Dravet syndrome: Characteristics, comorbidities, and caregiver concerns

Cardiovascular safety of low-dose fenfluramine in Dravet syndrome: A review of its benefit-risk profile in a new patient population

Cacna1q is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

Fatal cerebral edema with status epilepticus in children with Dravet syndrome: Report of 5 cases

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