DSF Research Review
Welcome to DSF’s Research Review! We use this space to keep you up to date on the most exciting studies that are published each month on Dravet syndrome and SCN1A. Each review includes a link to the original abstract or article (where possible), as well as a lay-person’s summary. Have questions? Email Nicole.
Looking for more information on research? Click on the button below to go to a list of pubmed published scientific articles on Dravet syndrome.
August 2018
A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome
(Favero et al. 2018) Several years ago, researchers showed that Scn1a mutations in mice are primarily expressed in GABAergic interneurons, the inhibitory neurons that counteract excitatory neurons in the brain. A defect in these [...]
May 2018
Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey
(Campbell JD, et al. 2018) This is the second part of the survey described in the last review, in which 30 caregivers of patients with Dravet syndrome treated at Children's Hospital Colorado responded to [...]
The direct and indirect costs of Dravet Syndrome
(Whittington MD, et al. 2018) The authors sent out an online survey to 60 caregivers whose patients with Dravet syndrome were treated at Children's Hospital Colorado. The survey asked in-depth questions about how caring [...]
March 2018
Somatic mosaic deletions involving SCN1A cause Dravet syndrome
(Nakayama et al. 2018) Although 10-20% of patients with Dravet syndrome test negative for SCN1A mutations on standard tests, researchers have been able to identify mutations with improved testing methods. This study examined 230 cases [...]
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells
(Tatsukawa et al. 2018) When scientists first started studying Scn1a in mice, their only option was to generate a mouse family that had a human Dravet-like mutation (that rendered the gene non-functional) or not. That [...]
February 2018
Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects
(Eimon et al. 2018) In this study, the authors used two Dravet-like zebrafish models, each with a different mutation, to describe a method of monitoring zebrafish larvae via implanted electrodes (as opposed to external [...]
January 2018
Severe peri-ictal respiratory dysfunction is common in Dravet syndrome
(Kim et al. 2018) SUDEP is believed to be caused by cardiorespiratory arrest (or the stopping of the heart and breathing). However, it is not clear whether heart rate slows and stops, causing respirations [...]
Sleep problems in Dravet syndrome: a modifiable comorbidity
(Licheni et al. 2017) 57 patients from Australia completed a sleep questionnaire, with 75% reporting problems. The most commonly reported problem was difficulty initiating and maintaining sleep, with sleep-wake transition disorders second most common. [...]
Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort study
(Lagae et al. 2017) This survey of 584 mostly European caregivers of patients with Dravet syndrome took a different approach than the previous surveys, measuring the frequency of several different convulsive seizures and comparing [...]
November 2017
[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 [...]
The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model
(Hawkins et al. 2017) Benzodiazepines like clobazam and diazepam target GABAA receptors located in the synaptic area of neurons. Other medication families, like neurosteroids, can target GABAA receptors beyond the synapses. In previous work, [...]
Growth and endocrine function in children with Dravet syndrome
(Eschbach et al. 2017) The authors reviewed the charts of 68 patients with Dravet syndrome treated at Children's Hospital Colorado. They found that the children's height and weight fell further below average as the [...]
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
(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 [...]
Parental perception of co-morbidities in children with Dravet syndrome
(Knupp, et al. 2017) This online survey of 202 caregivers measured frequencies of reported comorbidities commonly associated with Dravet syndrome. 99% of caregivers reported an issue with appetite, 82% reported sleep concerns, 75% reported [...]
October 2017
Efficacy of stiripentol in Dravet syndrome with or without SCN1A mutations
(Cho et al. 2017) This small study of 32 patients with clinically-diagnosed Dravet syndrome sought to determine whether stiripentol's efficacy differed among those with and without SCN1A mutations. 15 patients had definite SCN1A mutations, and 17 [...]
Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome
(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 [...]
Dravet syndrome and its mimics: Beyond SCN1A
(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. [...]
Population Pharmacokinetics of Stiripentol in Paediatric Patients with Dravet Syndrome Treated with Stiripentol, Valproate and Clobazam Combination Therapy
(Peigne S, et al. 2017) Although stiripentol has been used to treat patients with Dravet syndrome for several years, its pharmacokinetics (how the body processes the medication after a dose) are not always well [...]
August 2017
Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1lab 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 [...]
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 [...]
Life impact of caregiving for severe childhood epilepsy: Results of expert panels and caregiver focus groups
(Jensen MP, et al. 2017). Through focus groups and interviews with a group of clinician experts and caregivers, this study sought to identify the ways in which severe epilepsy impacts caregivers. In the first [...]
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 [...]
July 2017
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 [...]
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
(Hammer MF, et al. 2017) There is a broad spectrum of severity in Dravet syndrome, even among patients who have the same SCN1A mutation, which suggests other genes may play a role in modifying [...]
Age-related “Sleep/nocturnal” tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet syndrome
(Losito E, et al. 2017) Of 33 patients with Dravet syndrome older than eleven years in a French cohort, 26 experienced a switch from mainly daytime seizures to mainly sleep/nocturnal (S/N) seizures between age [...]