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Research News

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Review of: Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome

Banerji et al (2021) recently published a manuscript in Brain Communications describing their investigation of metabolic pathways in a zebrafish model of Dravet syndrome. Previous studies had described metabolic deficits in Dravet syndrome generally related to decreased energetic output. The ketogenic diet remains one of the more successful therapies for seizure reduction in Dravet syndrome,

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New Study for Adults

New Study Opportunity for Adults with Dravet Syndrome Dr. Danielle Andrade, an adult neurologist who is an expert in Dravet syndrome (DS), is currently conducting a study of adults with DS to improve the understanding of seizures, symptoms, comorbidities, and daily life as patients age. Part of the study is examining patients that visit Dr.

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Curing Epilepsies recap 2021, image of brain

Curing the Epilepsies

Curing the Epilepsies 2021: Setting Research Priorities On January 5-7, 2021, the NIH/NINDS (National Institute of Health/ National Institute of Neurological Disorders and Stroke) held the “Curing the Epilepsies 2021: Setting Research Priorities” conference in a virtual format. The goal of the conference was to guide updates to the current Epilepsy Research Benchmarks and Transformative Research Priorities with

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Dravet syndrome UK logo DSUK covid-19 survey

The impact of COVID-19 in Dravet Syndrome: a UK survey

The COVID-19 pandemic has raised health concerns worldwide, but particularly in communities that may be at higher risk from illness and infection. To understand this better in the Dravet syndrome community, Dravet Syndrome UK (DSUK) performed a survey of families caring for an individual living with Dravet syndrome from June-July 2020 to assess the impacts

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Woman researcher using microscope in lab

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.

Just last month, a previous research review detailed how Stoke Therapeutics developed their targeted augmentation of nuclear gene output (TANGO), utilizing anti-sense oligonucleotides (ASOs) to upregulate expression of several genes, including SCN1A, in human cells and mouse brain. ASOs are single-stranded RNAs that bind to target RNA sequences and have the potential to alter the

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome. Read More »

Woman researcher using microscope in lab

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

In this brief report published in June, Vezyroglou et al detail the results of epilepsy surgery for focal seizures in 8 patients carrying mutations in the SCN1A gene that were predicted to be causal. Three of the 8 patients had a clinical diagnosis of Dravet syndrome. The surgical procedures were successful in reducing or eliminating

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? Read More »

Woman researcher using microscope in lab

Electrophysiological alterations of pyramidal cells and interneurons of the CA1 region of the hippocampus in a novel mouse model of Dravet syndrome

In this paper, Dyment et al detail a new mouse for the study of Dravet syndrome modeled after a patient mutation. This particular mutation (H939R) does not result in the typical haploinsufficiency where Nav1.1 sodium channel levels are reduced, but rather appears to affect the function of one copy of the sodium channel. Consistent with

Electrophysiological alterations of pyramidal cells and interneurons of the CA1 region of the hippocampus in a novel mouse model of Dravet syndrome Read More »

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