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 have been reported, but only a small number of these have been characterized functionally. This is unfortunate, because some SCN1A mutations [...]
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 valproate (Depakote). Stiripentol was first reported to be helpful in Dravet syndrome in 2000, and was approved in the EU in [...]
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 stage (worsening; up to age 5) which is characterized by the appearance of additional seizure types (e.g. generalized motor, atypical, myoclonic, [...]
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 the Phase 3 clinical trial and are continuing with the drug, but can know information that was previously blinded, such as [...]
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 only half the normal amount of Nav1.1 protein. New gene therapy approaches are starting to have success replacing mutated gene copies [...]
Cannabidiol oral solution (Epidiolex) was recently approved in the United States for the treatment of seizures associated with Dravet syndrome. It is typically used as an adjunct with other medication(s). This paper highlights the observation that the effect of cannabidiol is significantly increased when used in conjunction with clobazam (a.k.a. "Onfi"), and it raises [...]
In reviews of Dravet syndrome, statements about gait are usually very generalized, along the lines of: " by the age of 13 years, up to 80% of people with Dravet syndrome walk with a crouch gait". However, it would be useful to have a more specific, and detailed, description, which is what the current [...]
This paper was interesting because one doesn't see too many reports focused on adult Dravet patients. It has been found that Parkinsonism is a motor condition that often develops in adults with Dravet syndrome. However, it is not well understood how Dravet syndrome, in particular dysfunction of the NaV1.1 sodium channel, is connected to [...]
As seen in many of these research summaries, models that reliably mimic human Dravet syndrome, such as engineered mice and zebrafish, allow labs to try out various potential drugs in a quick and safe manner. In this study, the researchers used a Dravet mouse model to test the efficacy of donepezil (a.k.a. "Aricept"), an [...]
This article is interesting for a couple of reasons. First, it describes the use of zebrafish as a model for Dravet syndrome. Zebrafish have become very useful in medical research. They are small, and easy and inexpensive to maintain and employ in drug response studies, especially in comparison to mice. Of course, although they [...]