Research News
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 […]
The Efficacy of Ketogenic Diet in 60 Chinese Patients With Dravet Syndrome Read More »
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
This is a survey of the efficacy of perampanel as an add-on therapy in children with Dravet syndrome. Perampanel (a.k.a. Fycompa) was first approved in 2012, and last year its use was extended to pediatric patients. The authors were able to gather data on 10 Dravet patients – their average age was 11.5 years, and
Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome. Read More »
A number of publications have appeared recently reporting on the efficacy and safety of cannabidiol (CBD) as an add-on therapy, as its clinical trials are concluding and its use is extending. This paper describes an \”expanded access\” program – that is, when the FDA allows access to a drug before approval. This is of interest
(Haginoya et al. 2018) This study out of Japan examined the glucose uptake in the brain of 8 patients with Dravet syndrome, 4 of whom were three years or younger, and 4 of whom were 6 years and older. During the fluorodeoxyglucose positron emission tomography (FDG-PET) scan, the patients were injected with a chemically labeled
(Richards et al. 2018) SCN1A is primarily expressed in inhibitory interneurons in the brain. These cells counteract the excitatory neurons, so mutations in SCN1A disrupt inhibition, leading to too much excitation and seizures. An ideal treatment would be one that encourages the inhibitory neurons to work more efficiently without simultaneously increasing excitatory neuron function. Based on previous
(Frasier et al. 2018) It has long been known that SCN1A is expressed in heart cells as well as brain cells, and for several years scientists have hypothesized that the high rate of mortality in patients with Dravet syndrome could be due in part to some dysfunction in the heart caused by SCN1A mutations. The
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes Read More »
(Favero et al. 2018) Several years ago, researchers showed that Scn1a mutations in mice are primarily expressed in GABAergic interneurons, the inhibitory neurons that counteract excitatory neurons in the brain. A defect in these inhibitory neurons causes excess excitation, resulting in seizures and epilepsy in Dravet syndrome. However, that research was done primarily on brain
(Nakayama et al. 2018) Although 10-20% of patients with Dravet syndrome test negative for SCN1A mutations on standard tests, researchers have been able to identify mutations with improved testing methods. This study examined 230 cases of Dravet syndrome with apparently negative SCN1A results and found 2 mosaic microdeletions of the entire SCN1A gene. Mosaic mutations occur sometime after
Somatic mosaic deletions involving SCN1A cause Dravet syndrome Read More »
(Tatsukawa et al. 2018) When scientists first started studying Scn1a in mice, their only option was to generate a mouse family that had a human Dravet-like mutation (that rendered the gene non-functional) or not. That is, the mice either had the mutation in all of their cells, or they didn\’t. With new techniques, scientists are now
