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 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 [...]
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients
(Dibue-Adjei M, et al. 2017) A review of the literature on vagus nerve stimulation (VNS) therapy in patients with Dravet syndrome resulted in 13 studies (68 patients total). Of those patients, approximately 53% experienced [...]
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 [...]
Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome
(Devinsky, et al. 2017) The long-anticipated results from the first randomized, double blind, placebo controlled trial of cannabidiol (CBD) in Dravet syndrome show that cannabidiol can help alleviate seizures in this syndrome. While there [...]
May 2017
Unexpected efficacy of a novel sodium channel modulator in Dravet syndrome
(Anderson LL et al. 2017). Sodium channel blockers usually make seizures worse in Dravet syndrome, which can be a confusing concept since we associate problems with the sodium ion channel due to SCN1A mutations leading [...]
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 [...]
Clinical and neuroimaging features of acute encephalopathy after status epilepticus in Dravet syndrome
(Tian XJ et al. 2017). Acute encephalopathy (AE) is a term used to describe brain disease, damage, or malfunction that occurs with an abrupt onset and is progressive in nature. In Dravet syndrome, acute [...]
Early-life febrile seizures worsen adult phenotypes in SCN1A mutants
(Dutton SBB et al. 2017). Many patients with Dravet syndrome experience prolonged early-life febrile seizures. Although the occurrence of these events in relation to vaccines and the resulting adult presentation has been studied (here), the [...]
Pharmacological analysis of the anti-epileptic mechanisms of fenfluramine in SCN1A mutant zebrafish
(Sourbron J et al. 2017). Fenfluramine (FA) is known to affect serotonin (5-HT) levels in the brain, but there are several different 5-HT receptor subtypes that may be involved in FA's mechanism of action. This [...]
Stiripentol in the management of epilepsy
(Nickels KC, Wirrell EC 2017). This article reviews the current knowledge on stiripentol (Diacomit), as related to its mechanism of action (including its effects on the GABA-A receptor and inhibition of lactate dehydrogenase, a [...]
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 [...]
March 2017
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 [...]
Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome
Most mouse models of Dravet syndrome have supported the theory that SCN1A mutations affect inhibitory neurons more than excitatory neurons, resulting in a the inhibitory neurons' failure to activate and counteract excitation. Various theories [...]
February 2017
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
(Cetica, 2017). Now that genetic testing is becoming more common and less expensive, more infants under 12 months are being tested for SCN1A mutations. For infants who are positive for SCN1A mutations, the question [...]
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 [...]
Dysarthria and broader motor speech deficits in Dravet syndrome
(Turner, et. al, 2017). This study, published in Neurology, examined the speech patterns of 20 patients with Dravet syndrome who had SCN1A mutations (inherited in 3 cases) by employing standardized assessments for speech and language. [...]
January 2017
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome
(Myers, et. al. 2017). GEFS+ (Generalized Epilepsy with Febrile Seizures Plus) is somewhere near the middle of the spectrum of SCN1A-related disorders that places migraines or simple febrile seizures at the mild end and [...]
Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome
(Griffin, et. al 2017). Building on previous drug screening in a Dravet syndrome model of zebrafish that identified clemizole, a histamine (H1) receptor antagonist, as having anti-epileptic properties, this study sought to further examine the [...]
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome
(Ishii, A. et. al. 2017). In studying the mutations in a large group of 285 Japanese patients with Dravet syndrome, the authors found that missense mutations were found more often in a few specific, [...]