Avatar

About Nichelle Dominguez

This author has not yet filled in any details.
So far Nichelle Dominguez has created 20 blog entries.

SCN1A

By |2016-11-03T15:02:17-05:00July 1st, 2016|Categories: DSF Research Review|

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,” [...]

May/June Research

By |2016-10-21T16:05:53-05:00June 10th, 2016|Categories: DSF Research Review|

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 [...]

April Research

By |2016-10-21T16:23:15-05:00May 6th, 2016|Categories: DSF Research Review|

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 Research

By |2016-10-21T16:32:37-05:00April 8th, 2016|Categories: DSF Research Review|

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 [...]

February Research

By |2016-11-04T13:12:05-05:00March 9th, 2016|Categories: DSF Research Review|

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 [...]

Research Published December 2015 and January 2016

By |2016-10-21T17:14:08-05:00February 10th, 2016|Categories: DSF Research Review|

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 [...]

In Honor of Ruby

By |2016-11-16T15:47:46-05:00January 26th, 2016|Categories: Making a Difference|

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 [...]