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 our team.
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 2019
Time of Day and a ketogenic diet Influence Susceptibility to SUDEP in Scn1aR1407X/+ Mice
This article brought forth some interesting observations. First, a major caveat - this study was done in mice. Mice with a relevant mutation in the Scn1a gene have proven to be a useful [...]
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results
A number of publications have appeared recently reporting on the efficacy and safety of cannabidiol (CBD) as an add-on therapy, as its clinical trials are concluding and its use is extending. This paper [...]
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 [...]