More supporting evidence of the interneuron hypothesis of Dravet syndrome arose this summer after researchers found decreased sodium currents and action potential firing in inhibitory patient-derived Dravet iPSC neurons, but normal function in excitatory Dravet neurons (Sun, et. al. 2016). (What is the inhibitory interneuron hypothesis? It is the prevailing belief that many SCN1A mutations [...]
Two new cases of truncating (or nonsense) SCN1A mutations without the severe outcome of Dravet syndrome were described (Takaori, et. al. 2016). One, an 11-year old with approximately one seizure per year on two anti-epileptic medications, showed “moderate mental retardation.” The other, a 4-year old whose only seizures were febrile, showed a “borderline developmental quotient,” [...]
The Goddard School & its parent community organized a fundraiser in honor of Ella. Her sister, Clara, is in the Pre-K classroom and the school wanted to help raise awareness and funds for the Dravet Syndrome Foundation. Over a two week period, they sold butterflies of all colors, which were hung in their foyer as [...]
May and the first part of June saw a surge in Dravet syndrome publications. Nearly half of those publications were from one journal, The Canadian Journal of Neurological Sciences. This journal ran a 23-page series of 5 articles focused on Dravet featuring an introduction and conclusion by Dr. Charlotte Dravet, sandwiching three articles on diagnosis and [...]
Welcome back! The peer-reviewed literature relevant to Dravet that was published in April focused on investigations at the gene level, with one exception for a zebrafish metabolism study. We are still working on the best format for this blog, so please let us know if you have any feedback! 1. Overview of Models of SCN1A Schutte, [...]
March was a busy month for Dravet research! Here we highlight 4 studies on SCN1A variants (including the latest hot topic, mosaicism, and how mutations relate to cognitive impairment); a review of medications used for Dravet (co-authored by one of our very own Medical Advisory Board members); a new transcutaneous VNS device; a small study on [...]
Those who have difficulty accepting the fact that no one is entirely sure how many anti-epileptic drugs work will find solace in research published in the last two months, which gives us several insights into why certain medications such as stiripentol and CBD might help control seizures. Two studies on STP and one on CBD show [...]
In honor of Hayden, his parents recently hosted a t-shirt fundraiser, with proceeds benefiting DSF. Thanks to an outpouring of support from family and friends, they raised almost $3,000! Thank you to Hayden, his parents and their amazing supporters!
Clinical Research: Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial. (Lancet Neurology, Dec. 2015) (http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(15)00379-8/fulltext) Data from the first large safety and tolerability study on GW Pharmaceuticals’ Epidiolex, a highly purified extraction of plant-based cannabidiol (CBD), was published. The study, led by Dr. Orrin Devinsky and clinicians across the US, included 214 patients, 33 [...]
Thrivent Financial’s Employee Volunteer Team held a Misfit Gift sale on January 19, 2015. They sold new, unwanted gifts items from the holidays, donated by their corporate employees. Sales proceeds and cash contributions totaled $226.33 from the sale, and were matched by Thrivent Financial, with a check for $452.66 being sent to the Dravet Syndrome Foundation in [...]
