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.
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, [...]
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis.
(Verbeek, et. al. 2016). In a study of 53 patients with Dravet syndrome in the Netherlands, a response was seen on EEG (not necessarily correlated with clinical symptoms) in 42%. Those who showed a response [...]
December 2016
Crouch gait in Dravet syndrome
(Black, L., Gaebler-Spira, D. 2016). The authors studied 12 patients with Dravet syndrome and SCN1A mutations, aged 2-17. All patients showed gait disturbances and fine motor delays, and those over the age of 6 had [...]
Duration of use of oral cannabis extract in a cohort of pediatric epilepsy patients
(Treat, et. al. 2016). Neurologists at The Children's Hospital Colorado followed 119 patients as they began treatment with various caregiver-chosen oral cannabis extracts (OCEs). Patients used the extracts for an average of 11.7 months and [...]
November 2016
GAPDH-mediated posttranscriptional regulations of sodium channel SCN1A and SCN3a genes under seizure and ketogenic diet conditions
(Lin, et. al. 2016). As the SCN1A gene is read in the nucleus of the cell, a transcript is created that travels outside of the nucleus and is eventually translated into the protein that [...]
October 2016
Mortality in Dravet syndrome: A review
(Shmuely, 2016). This study reviewed more than 70 previously published articles and meeting extracts on mortality in Dravet syndrome and analyzed 177 cases of death in Dravet syndrome. Sudden unexpected death in epilepsy (SUDEP) [...]
Fine mapping of a Dravet syndrome modifier locus on mouse chromosome 5 and candidate gene analysis by RNA-seq
(Hawkins, et. al. 2016). Because two people with the same SCN1A mutation can present with substantially different symptoms, often at opposite ends of the spectrum, scientists know there must be modifiers that affect how [...]
From genotype to phenotype in Dravet disease
(Gataullina, Dulac 2016). This review of current knowledge confirmed the general consensus about what Dravet syndrome entails including temperature-related seizure triggers (acknowledging pertussis vaccination as a cause of hyperthermia), status seizures, seizures in sleep [...]
Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: A prospective study of a new cohort of patients
(Schoonjans, 2016). Fenfluramine, a weight-loss medication that has been shown to affect serotonin levels and decrease seizures in a small group of patients with Dravet syndrome in Europe, is currently in US clinical trials. [...]
Huperzine A Provides Sustained Protection Against Induced Seizures in SCN1A Mutant Mice
(Wong, et. al. 2016). Huperzine-A, a molecule found in Chinese club moss, has been used for Alzheimer’s disease and age-related memory impairment. It inhibits the breakdown of the neurotransmitter acetylcholine, thus raising levels of [...]
Mortality in Dravet syndrome
(Cooper, 2016). E xamining 100 patients with Dravet syndrome (87 of whom had SCN1A mutations) over a follow-up period averaging 17 years, the authors reported that 17 patients died (17%). Ten of those were [...]