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 […]
(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
(Liu et al. 2017. Article in Chinese) In the past several years, careful and sensitive DNA sequencing techniques have revealed that a small but significant percentage of parents of patients with DS who initially test negative for the child\’s mutation are actually mosaic for the mutation. That is, instead of the mutation being present in
Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome Read More »
(Yang et al. 2017) Most cases of mosaicism (where a mutation occurred shortly after fertilization and thus not all body cells carry it) found in parents of patients with DS are determined through blood samples. However, because different cells of the body are descended from different types of embryonic cells, the percentage of mutated SCN1A in
(Kaplan, et al. 2017) Parents often report “improved behavior” or “improved cognition” when they initiate cannabidiol (CBD) treatment in their children with Dravet syndrome, with and without improved seizure control. This project sought to measure the effect of CBD on seizure control, autistic-like behaviors, and specific neuron action. They found that when mice were given
Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome Read More »
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