Research News
This study explored EEG characteristics over the life cycle of Dravet mice; that is, through the febrile, worsening, and stabilization stages. One common way to analyze EEG spectra is to compute the “power spectral density” (PSD) profile. The authors found that normal EEG patterns were observed at the febrile stage, however a marked reduction in […]
Early EEG and behavioral alterations in Dravet mice Read More »
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 for fixing genetic disorders, with the use of adeno-associated virus (\”AAV\”) as the preferred delivery system – but the coding region of
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, absence)
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 with
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 the
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 paper
Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study Read More »
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 the
Dravet syndrome and parkinsonism: A case report investigating the dopaminergic system Read More »
In 2013, the Baraban Lab published their work on creating and characterizing an scn1lab mutant model of zebrafish that results in many symptoms of the human disease Dravet syndrome. In that initial report, they described how they used the model to screen thousands of compounds for both anti-seizure effects and non-toxicity, identifying several targets for
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 share
Dravet syndrome is caused by loss-of-function mutations in the SCN1A gene, which codes for the alpha subunit of the NaV1.1 sodium channel. However, there are other sodium channels, and it is known that gain-of-function mutations in SCN8A, the gene that codes for the alpha subunit of the NaV1.6 sodium channel, can lead to severe epileptic
