In previous research reviews we have talked about “Dravet mice” – usually that means mice which have been engineered to carry a deletion of one copy of the Scn1a gene. These mice exhibit the key features of Dravet syndrome, including febrile and spontaneous seizures, SUDEP, and cognitive and behavioral deficits. But these mice display varying […]
GABRA2 is a genetic modifier of Dravet syndrome in mice Read More »
Glucagon-like peptide-1 (GLP-1) is a hormone that is secreted from intestinal cells after food ingestion, stimulates insulin secretion, and helps regulate blood sugar levels. It also binds to receptors in the brain and promotes satiety, thereby reducing food intake. For these reasons, GLP-1 analogs have become popular as second-line drugs to treat type 2 diabetes
In previous posts we have profiled fenfluramine as a recent promising add-on therapy for Dravet syndrome, which not only reduces seizures but also improves executive functioning (behavior, emotions, and cognition). Fenfluramine\’s known pharmacological profile is to bind at 5-HT receptors and enhance the release of serotonin. It is thought that this mechanism is probably insufficient
Fenfluramine acts as a positive modulator of sigma-1 receptors Read More »
This study used zebrafish to try to gain insights into the very earliest neurodevelopmental effects occurring in Dravet syndrome. In previous posts we have explained that appropriately mutated zebrafish are now an established and useful model for Dravet syndrome. The authors performed behavioral analysis, measured convulsions, and did extensive examination of the functional and morphological
Dravet Syndrome is caused by loss-of-function mutations affecting the NaV1.1 sodium channel. In a July 2019 research summary, we pointed out that gain-of-function mutations in another sodium channel, called NaV1.6, can lead to severe epileptic conditions – suggesting that NaV1.1 and NaV1.6 exist in a balance that maintains proper nerve conduction. This raised the possibility
This study explored EEG characteristics over the life cycle of Dravet mice; that is, through the febrile, worsening, and stabilization stages. One common way to analyze EEG spectra is to compute the “power spectral density” (PSD) profile. The authors found that normal EEG patterns were observed at the febrile stage, however a marked reduction in
Early EEG and behavioral alterations in Dravet mice Read More »
Dravet syndrome is caused by a mutation in the SCN1A gene, which codes for the NaV1.1 sodium channel a subunit. As described in previous summaries, gene therapy is becoming a very promising approach for fixing genetic disorders, with the use of adeno-associated virus (\”AAV\”) as the preferred delivery system – but the coding region of
Dravet syndrome can be conceptualized as a three-stage disease – the first stage (febrile; up to age 1) is typically characterized by prolonged complex febrile seizures and status epilepticus; followed by a second stage (worsening; up to age 5) which is characterized by the appearance of additional seizure types (e.g. generalized motor, atypical, myoclonic, absence)
Our chromosomes are paired, and therefore we have two copies of almost every gene. The mutations that cause Dravet Syndrome affect only one copy of the Scn1a gene, which leads to production of only half the normal amount of Nav1.1 protein. New gene therapy approaches are starting to have success replacing mutated gene copies with
Cannabidiol oral solution (Epidiolex) was recently approved in the United States for the treatment of seizures associated with Dravet syndrome. It is typically used as an adjunct with other medication(s). This paper highlights the observation that the effect of cannabidiol is significantly increased when used in conjunction with clobazam (a.k.a. “Onfi”), and it raises the
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