Upcoming EL-PFDD Meeting February 3rd!


Upcoming EL-PFDD Meeting February 3rd!

Mortality in Dravet syndrome: A review

By |2016-11-17T21:39:03-05:00October 28th, 2016|Categories: DSF Research Review|Tags: , |

(Shmuely, 2016). This study reviewed more than 70 previously published articles and meeting extracts on mortality in Dravet syndrome and analyzed 177 cases of death in Dravet syndrome. Sudden unexpected death in epilepsy (SUDEP) was the cause of death in nearly half of those cases, followed by status epilepticus in 32%, drowning/accidental death in 8%, [...]

Fine mapping of a Dravet syndrome modifier locus on mouse chromosome 5 and candidate gene analysis by RNA-seq

By |2016-11-17T19:45:23-05:00October 28th, 2016|Categories: DSF Research Review|Tags: , , |

(Hawkins, et. al. 2016). Because two people with the same SCN1A mutation can present with substantially different symptoms, often at opposite ends of the spectrum, scientists know there must be modifiers that affect how SCN1A mutations manifest in clinical severity. In fact, creating a Dravet syndrome mouse line is not as simple as inserting a [...]

From genotype to phenotype in Dravet disease

By |2016-11-17T19:47:20-05:00October 28th, 2016|Categories: DSF Research Review|Tags: , , |

(Gataullina, Dulac 2016). This review of current knowledge confirmed the general consensus about what Dravet syndrome entails including temperature-related seizure triggers (acknowledging pertussis vaccination as a cause of hyperthermia), status seizures, seizures in sleep as patients age, crouch gait, intellectual disability, and SUDEP susceptibility. The most noteworthy conclusions, however, included questioning whether chronic use of [...]

Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: A prospective study of a new cohort of patients

By |2016-11-17T21:48:33-05:00October 28th, 2016|Categories: DSF Research Review|Tags: |

(Schoonjans, 2016). Fenfluramine, a weight-loss medication that has been shown to affect serotonin levels and decrease seizures in a small group of patients with Dravet syndrome in Europe, is currently in US clinical trials. In this study, nine European patients enrolled in a prospective open label clinical study on fenfluramine. “Prospective” refers to the fact [...]

Huperzine A Provides Sustained Protection Against Induced Seizures in SCN1A Mutant Mice

By |2016-11-17T21:51:10-05:00October 28th, 2016|Categories: DSF Research Review|Tags: , |

(Wong, et. al. 2016). Huperzine-A, a molecule found in Chinese club moss, has been used for Alzheimer’s disease and age-related memory impairment. It inhibits the breakdown of the neurotransmitter acetylcholine, thus raising levels of acetylcholine. Although previous studies on zebrafish have not found Huperzine-A to have significant antiepileptic properties, this study found that Hup-A protected [...]

Mortality in Dravet syndrome

By |2016-11-17T21:42:01-05:00October 26th, 2016|Categories: DSF Research Review|Tags: , |

(Cooper, 2016). E xamining 100 patients with Dravet syndrome (87 of whom had SCN1A mutations) over a follow-up period averaging 17 years, the authors reported that 17 patients died (17%). Ten of those were caused by SUDEP, 4 by status epilepticus, 2 by drowning, and 1 by asphyxia. Taking into account the follow-up time period, [...]


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