Research News

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

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

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

This was a retrospective study, gathering information on Dravet patients who, over the last nine years, had followed a strict ketogenic diet for at least 12 weeks. In total, there were 60 children identified. The duration of their ketogenic diets ranged from 12 weeks to 54 months, with a median duration of 44 weeks. In

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 they have. Drugs have unwanted side-effects, and it is worth asking: if we hit just one specific kind of GABAA receptor, instead