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.
November 2020
The impact of COVID-19 in Dravet Syndrome: a UK survey
The COVID-19 pandemic has raised health concerns worldwide, but particularly in communities that may be at higher risk from illness and infection. To understand this better in the Dravet syndrome community, Dravet Syndrome UK [...]
September 2020
Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.
Just last month, a previous research review detailed how Stoke Therapeutics developed their targeted augmentation of nuclear gene output (TANGO), utilizing anti-sense oligonucleotides (ASOs) to upregulate expression of several genes, including SCN1A, in human [...]
August 2020
Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?
In this brief report published in June, Vezyroglou et al detail the results of epilepsy surgery for focal seizures in 8 patients carrying mutations in the SCN1A gene that were predicted to be causal. [...]
Electrophysiological alterations of pyramidal cells and interneurons of the CA1 region of the hippocampus in a novel mouse model of Dravet syndrome
In this paper, Dyment et al detail a new mouse for the study of Dravet syndrome modeled after a patient mutation. This particular mutation (H939R) does not result in the typical haploinsufficiency where Nav1.1 [...]
Cardiovascular safety of fenfluramine in the treatment of Dravet syndrome: Analysis of an ongoing long-term open-label safety extension study
FINTEPLA (fenfluramine) was recently approved by the FDA for the treatment of seizures in Dravet syndrome. The FDA required Zogenix, Inc to include a black box warning on the label because fenfluramine belongs to a [...]
Aberrant regulation of a poison exon caused by a non-coding variant in Scn1a-associated epileptic encephalopathy
In late June 2020, Voskobiynyk et al shared their recent manuscript on bioRxiv (pre-print before peer-review) detailing a novel mouse model of Dravet syndrome that carries the same mutation in a non-coding region as [...]
Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression
Stoke Therapeutics published a paper in Nature Communications detailing the mechanism of action for their new TANGO (targeted augmentation of nuclear gene output) therapy that utilizes ASO (antisense oligonucleotide) technology. While the applications of [...]
May 2020
GABRA2 is a genetic modifier of Dravet syndrome in mice
In previous research reviews we have talked about “Dravet mice” – usually that means mice which have been engineered to carry a deletion of one copy of the Scn1a gene. These mice exhibit the [...]