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Nicole Villas

Nicole is a former scientist and science educator who has an 11 year old son with Dravet syndrome and serves on the Board of Directors for the Dravet Syndrome Foundation. She reviews and summarizes research articles, making the content more accessible to those not involved in the scientific community.

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

(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.

(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

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 …

Dravet syndrome: Characteristics, comorbidities, and caregiver concerns Read More »

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

(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 It was withdrawn from the market in 1997 due to reports of …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

(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 …

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

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

(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 »

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

(Jensen, et al. 2017). A team of physicians from Washington, the United Kingdom, Colorado, and Zogenix, Inc. reviewed the published literature on the burden of Dravet syndrome (DS) on caregivers and families. Instead of examining diagnostic criteria, treatment/management, seizure control, etc., they looked specifically for how DS affects the caregiver and families both humanistically and economically. …

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research Read More »

Optimizing the Diagnosis and Management of Dravet syndrome: Recommendations from a North American Consensus Panel

(Wirrell, et al. 2017). A panel of experts on Dravet syndrome including 13 physicians and 5 family members of patients with Dravet syndrome in North America answered a series of in-depth surveys about the presentation, diagnosis, and treatment of Dravet syndrome. Consensus was obtained in many areas including presentation during the first years of life; …

Optimizing the Diagnosis and Management of Dravet syndrome: Recommendations from a North American Consensus Panel Read More »

Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features

(Aljaafari, et. al. 2017). In this brief communication, published in Epilepsia, the authors examined the motor differences between 14 adult patients with Dravet syndrome (DS) and 14 adult patients with Lennox-Gastaut syndrome (LGS). They chose Lennox-Gastaut because previous findings showed that adult patients with DS exhibited early-onset parkinsonian features, and they wanted to determine whether …

Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features Read More »

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