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 [...]
(Ho et al. 2018) The Rare Epilepsy Network (REN), a collaboration among more than 30 rare epilepsy patient groups including the Dravet Syndrome Foundation, released the first summary of data collected through their web-based, patient-reported database. 795 patients and caregivers participated, 106 of which were identified as Dravet syndrome, representing the 3rd largest group of [...]
(Ruffolo et al. 2018) Gamma-aminobutyric acid (GABA) is a small compound that acts on different receptors in the brain such as GABAA and GABAB and is considered one of the main inhibitory neurotransmittors. Dysfunction of the GABAergic system is found in many neurological disorders, and although mutations in genes that code for subunits of GABA [...]
Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants.
(Kumar et al. 2018) Similar to the last study reviewed, the authors examined the fluorodeoxyglucose positron emission tomography (FDG-PET) scans of 3 patients with refractory epilepsy and SCN1A mutations. (Recall, FDG-PET scans provide images of the rate at which glucose is utilized by brain tissue.) However, in this study, the patients were imaged at least [...]
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.
(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 [...]
(Chen et al. 2018) Excessive buildup of Tau, a protein that binds to microtubules in the brain, has been found in patients with Alzheimer's Disease, and specifically, in a mouse model of Alzheimer's with epilepsy. As such, finding ways to reduce the buildup of Tau has been the subject of research in epilepsy for the [...]
A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome
(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 [...]
(Campbell JD, et al. 2018) This is the second part of the survey described in the last review, in which 30 caregivers of patients with Dravet syndrome treated at Children's Hospital Colorado responded to questions regarding the impact of caring for their patients. In this part, the authors describe anxiety/depression and discomfort/pain as the greatest [...]