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.
January 2020
Sexually Divergent Mortality and Partial Phenotypic Rescue after Gene Therapy in a Mouse Model of Dravet Syndrome
Dravet syndrome is caused by a mutation in the SCN1A gene, which codes for the NaV1.1 sodium channel a subunit. As described in previous summaries, gene therapy is becoming a very promising approach [...]
Profound Reduction in Seizure Frequency (≥75%) Leads to Improved Everyday Executive Function: Analysis From a Phase 3 Study of ZX008 (Fenfluramine HCl) in Children/Young Adults With Dravet Syndrome
This month my literature survey returned a poster that was presented at the recent American Epilepsy Society meeting. Although this is not a peer-reviewed journal article, I include it because it is interesting, [...]
December 2019
SCN1A variants in vaccine-related febrile seizures: a prospective study
Prolonged febrile seizures (that is, seizures triggered by a fever) are a manifestation of Dravet syndrome. Vaccination is a highly effective public health approach that has led to reduced childhood morbidity and mortality [...]
SCN1A variants from bench to bedside – improved clinical prediction from functional characterization
Dravet syndrome is caused by mutations in the SCN1A gene, which encodes for the voltage-gated sodium channel Nav1.1 - a protein that participates in conduction of nerve signals. Thousands of different SCN1A mutations [...]
November 2019
Stiripentol: A Review in Dravet Syndrome
This article is a summary of the efficacy and safety of stiripentol (Diacomit), a drug indicated for use in patients with Dravet syndrome as an adjunctive therapy in conjunction with clobazam (Onfi) and [...]
Early hippocampal hyperexcitability followed by disinhibition in a mouse model of Dravet syndrome
Dravet syndrome can be conceptualized as a three-stage disease - the first stage (febrile; up to age 1) is typically characterized by prolonged complex febrile seizures and status epilepticus; followed by a second [...]
October 2019
Fenfluramine HCl (Fintepla®) Provides Long-Term Clinically Meaningful Reduction in Seizure Frequency: Results of an Open-Label Extension Study
This is a report on results from an open-label extension study of fenfluramine in children and young adults (2–18 years old) with Dravet syndrome. "Open-label extension" means that the participants have participated in [...]
dCas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice
Our chromosomes are paired, and therefore we have two copies of almost every gene. The mutations that cause Dravet Syndrome affect only one copy of the Scn1a gene, which leads to production of [...]