David C. Fry, PhD

About 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.

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

By |2019-09-09T17:20:38-05:00September 9th, 2019|Categories: DSF Research Review|Tags: , , |

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 [...]

Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome

By |2019-08-14T10:34:53-05:00August 14th, 2019|Categories: DSF Research Review|Tags: , , |

As seen in many of these research summaries, models that reliably mimic human Dravet syndrome, such as engineered mice and zebrafish, allow labs to try out various potential drugs in a quick and safe manner. In this study, the researchers used a Dravet mouse model to test the efficacy of donepezil (a.k.a. "Aricept"), an [...]

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

By |2019-07-15T23:23:04-05:00July 14th, 2019|Categories: DSF Research Review|Tags: , , |

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 [...]

Engineering brain activity patterns by neuromodulator polytherapy for treatment of disorders

By |2019-07-15T23:15:28-05:00July 14th, 2019|Categories: DSF Research Review|Tags: , , |

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 [...]

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

By |2019-07-15T23:17:09-05:00July 13th, 2019|Categories: DSF Research Review|Tags: , , |

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. [...]

Is Targeting of Compensatory Ion Channel Gene Expression a Viable Therapeutic Strategy for Dravet Syndrome?

By |2019-06-10T13:15:04-05:00June 8th, 2019|Categories: DSF Research Review|Tags: , |

In response to a disease-causing genetic mutation, the expression of any of the other normal genes might be up-regulated or down-regulated. This can be surveyed and measured. But is each response good or bad? Is the response trying to compensate, and restore normal function - or is it an unavoidable repercussion of the disease, [...]

Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome

By |2019-06-10T12:53:23-05:00June 7th, 2019|Categories: DSF Research Review|Tags: , , |

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, [...]

An Old Drug for a New Indication: Repurposing Fenfluramine From an Anorexigen to an Antiepileptic Drug

By |2019-06-10T12:57:02-05:00June 7th, 2019|Categories: DSF Research Review|Tags: , |

New treatments can arrive along a variety of pathways, and this review article describes an example of using a known drug in a new way - in this case, the trail by which fenfluramine became a drug candidate for Dravet Syndrome. Fenfluramine was found to accelerate weight loss in the 1960's, and was approved [...]

Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome.

By |2019-05-09T14:51:53-05:00May 9th, 2019|Categories: DSF Research Review|Tags: , , , , , |

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, [...]

Mitochondrial regulation of the hippocampal firing rate set point and seizure susceptibility.

By |2019-05-09T14:51:04-05:00May 9th, 2019|Categories: DSF Research Review|Tags: , , , , , , , , , , |

When the human genome was sequenced in 2000, it was hoped it would simplify the search for medicines - just compare the genome of someone with a disease to the healthy standard, identify the mutated gene, and develop a drug targeting that gene product.  It turned out disease states were much more complicated, usually [...]