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David C. Fry, PhD

Dr. David Fry is a retired researcher. His 4 year old granddaughter, Penny, has Dravet syndrome. He reviews and summarizes research articles, making the content more accessible to those not involved in the scientific community.

GABRA2 is a genetic modifier of Dravet syndrome in mice

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 »

The Glucagon-Like Peptide-1 Analogue Liraglutide Reduces Seizures Susceptibility, Cognition Dysfunction and Neuronal Apoptosis in a Mouse Model of Dravet Syndrome

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 …

The Glucagon-Like Peptide-1 Analogue Liraglutide Reduces Seizures Susceptibility, Cognition Dysfunction and Neuronal Apoptosis in a Mouse Model of Dravet Syndrome Read More »

Fenfluramine acts as a positive modulator of sigma-1 receptors

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 »

zebrafish

New insights into the early mechanisms of epileptogenesis in a zebrafish model of Dravet syndrome

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 …

New insights into the early mechanisms of epileptogenesis in a zebrafish model of Dravet syndrome Read More »

white mouse in lab

SCN8A Antisense Oligonucleotide is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

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 …

SCN8A Antisense Oligonucleotide is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome Read More »

white mouse in lab

Early EEG and behavioral alterations in Dravet mice

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 »

white mouse in lab

Sexually Divergent Mortality and Partial Phenotypic Rescue after Gene Therapy in a Mouse Model of Dravet Syndrome

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 …

Sexually Divergent Mortality and Partial Phenotypic Rescue after Gene Therapy in a Mouse Model of Dravet Syndrome Read More »

white mouse in lab

Early hippocampal hyperexcitability followed by disinhibition in a mouse model of Dravet syndrome

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) …

Early hippocampal hyperexcitability followed by disinhibition in a mouse model of Dravet syndrome Read More »

white mouse in lab

Cas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice

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 …

Cas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice Read More »

Reduced efficacy and risk of seizure aggravation when cannabidiol is used without clobazam

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 …

Reduced efficacy and risk of seizure aggravation when cannabidiol is used without clobazam Read More »

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