poison exon

Woman researcher using microscope in lab

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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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

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

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 »

Woman researcher using microscope in lab

Cardiovascular safety of fenfluramine in the treatment of Dravet syndrome: Analysis of an ongoing long-term open-label safety extension study

FINTEPLA (fenfluramine) was recently approved by the FDA for the treatment of seizures in Dravet syndrome. The FDA required Zogenix, Inc to include a black box warning on the label because fenfluramine belongs to a class of drugs that affect a specific serotonin receptor (5-HT2B), and these types of drugs have previously been associated with valvular

Cardiovascular safety of fenfluramine in the treatment of Dravet syndrome: Analysis of an ongoing long-term open-label safety extension study Read More »

Woman researcher using microscope in lab

Aberrant regulation of a poison exon caused by a non-coding variant in Scn1a-associated epileptic encephalopathy

In late June 2020, Voskobiynyk et al shared their recent manuscript on bioRxiv (pre-print before peer-review) detailing a novel mouse model of Dravet syndrome that carries the same mutation in a non-coding region as a patient diagnosed with Dravet syndrome. “Non-coding” means that the mutation is not located in an area of the DNA that

Aberrant regulation of a poison exon caused by a non-coding variant in Scn1a-associated epileptic encephalopathy Read More »

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