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.
October 2018
Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network
(Ho et al. 2018) The Rare Epilepsy Network (REN), a collaboration among more than 30 rare epilepsy patient groups including the Dravet Syndrome Foundation, released the first summary of data collected through their web-based, [...]
A novel GABAergic dysfunction in human Dravet syndrome
(Ruffolo et al. 2018) Gamma-aminobutyric acid (GABA) is a small compound that acts on different receptors in the brain such as GABAA and GABAB and is considered one of the main inhibitory neurotransmittors. Dysfunction [...]
September 2018
Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants.
(Kumar et al. 2018) Similar to the last study reviewed, the authors examined the fluorodeoxyglucose positron emission tomography (FDG-PET) scans of 3 patients with refractory epilepsy and SCN1A mutations. (Recall, FDG-PET scans provide images [...]
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.
(Haginoya et al. 2018) This study out of Japan examined the glucose uptake in the brain of 8 patients with Dravet syndrome, 4 of whom were three years or younger, and 4 of whom [...]
August 2018
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.
(Richards et al. 2018) SCN1A is primarily expressed in inhibitory interneurons in the brain. These cells counteract the excitatory neurons, so mutations in SCN1A disrupt inhibition, leading to too much excitation and seizures. An ideal treatment [...]
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes
(Frasier et al. 2018) It has long been known that SCN1A is expressed in heart cells as well as brain cells, and for several years scientists have hypothesized that the high rate of mortality [...]
Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy.
(Chen et al. 2018) Excessive buildup of Tau, a protein that binds to microtubules in the brain, has been found in patients with Alzheimer's Disease, and specifically, in a mouse model of Alzheimer's with [...]
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 [...]