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Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome

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 […]

Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome Read More »

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Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome.

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 »

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Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results

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

Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results Read More »

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[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

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. Read More »

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Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.

(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

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death. Read More »

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Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes

(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 »

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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

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome Read More »

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Somatic mosaic deletions involving SCN1A cause Dravet syndrome

(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 »

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Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

(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

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells Read More »

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Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome

(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 »

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