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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.

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 »

Dravet syndrome and parkinsonism: A case report investigating the dopaminergic system

This paper was interesting because one doesn’t see too many reports focused on adult Dravet patients. It has been found that Parkinsonism is a motor condition that often develops in adults with Dravet syndrome. However, it is not well understood how Dravet syndrome, in particular dysfunction of the NaV1.1 sodium channel, is connected to the …

Dravet syndrome and parkinsonism: A case report investigating the dopaminergic system Read More »

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype in a novel zebrafish model for Dravet Syndrome

Dravet syndrome is caused by loss-of-function mutations in the SCN1A gene, which codes for the alpha subunit of the NaV1.1 sodium channel. However, there are other sodium channels, and it is known that gain-of-function mutations in SCN8A, the gene that codes for the alpha subunit of the NaV1.6 sodium channel, can lead to severe epileptic …

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype in a novel zebrafish model for Dravet Syndrome Read More »

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Engineering brain activity patterns by neuromodulator polytherapy for treatment of disorders

This article is interesting for a couple of reasons. First, it describes the use of zebrafish as a model for Dravet syndrome. Zebrafish have become very useful in medical research. They are small, and easy and inexpensive to maintain and employ in drug response studies, especially in comparison to mice. Of course, although they share …

Engineering brain activity patterns by neuromodulator polytherapy for treatment of disorders Read More »

The Efficacy of Ketogenic Diet in 60 Chinese Patients With Dravet Syndrome

This was a retrospective study, gathering information on Dravet patients who, over the last nine years, had followed a strict ketogenic diet for at least 12 weeks. In total, there were 60 children identified. The duration of their ketogenic diets ranged from 12 weeks to 54 months, with a median duration of 44 weeks. In …

The Efficacy of Ketogenic Diet in 60 Chinese Patients With Dravet Syndrome Read More »

white mouse in lab

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 »

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 »

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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