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.
Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome
Many of the drugs used to treat Dravet Syndrome work by interacting with GABAA receptors. Each GABAA receptor is composed of subunits, and there are different versions of receptors depending on which subunits [...]
This is a survey of the efficacy of perampanel as an add-on therapy in children with Dravet syndrome. Perampanel (a.k.a. Fycompa) was first approved in 2012, and last year its use was extended [...]
When the human genome was sequenced in 2000, it was hoped it would simplify the search for medicines - just compare the genome of someone with a disease to the healthy standard, identify [...]
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 [...]
(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, [...]
(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 [...]
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 [...]