Epilepsy and Cannabinoids: A Literature Review
April 25th, 2017
This article provides a summarized report on the current literature that is available on the potential use of cannabinoids in the treatment of epilepsy. Everything from the definition of epilepsy, the mechanism of seizures, and the anticonvlusive effects of cannabidiol is covered in this review.
Endocannabinoid system stimulation may be potential approach to treatment of epilepsy
March 16th, 2017
The endocannabinoid system consists of certain lipids and their receptors which modulate activity in the nervous system. A study recently conducted at the Russian Academy of Sciences has shown that drug-induced activation of the endocannabinoid system can prevent damage to the hippocampus, which is involved in the progression of epilepsy.
LGS Foundation Announces New Partnership With CURE's Epilepsy Genetics Initiative (EGI) Program
March 16th, 2017
In the past few weeks, the LGS (Lennox-Gasaut Syndrome) Foundation has partnered with the Epilepsy Genetics Initiative (EGI), which is a program of Citizens United for Research in Epilepsy (CURE). The goal of this partnership is to ensure that more individuals with LGS have access to genetic testing and whole exome sequencing, and they are performing a pilot program open to families. More information on how to partake in this free genetic testing can be found in the linked article.
Doctors reverse teen's sickle cell disease with innovative gene therapy
March 3rd, 2017
Physicians performed gene therapy on a teen with sickle cell anemia by genetically altering his bone marrow to compensate for defective DNA. This procedure was successfully done in France, and being the first of its kind, it is unclear whether the procedure will expand to other countries or diseases, though it does show potential.
SCN8A Epilepsy - rare but devastating genetic disorder
February 9th, 2017
Families of over 150 children globally including Tristan Burk of Stoney Point, Ontario struggle with SCN8A - a rare but devastating genetic disorder - are joining forces to educate the public about SCN8A and inform affected families of available resources.
A disorder so rare and new, Stoney Point boy one of nine in Canada who has it
February 9th, 2017
Two articles were published recently on Tristan Burk who struggles with a SCN8A mutation. These articles highlight the International SCN8A Awareness day and also give a brief introduction to what life with SCN8A is like. With good seizure control and with the help of an occupational therapist, Tristan has made steady developmental progress.
Genes implicated in rare pediatric epilepsy contribute to common forms of disorder, study finds
January 12th, 2017
A recent study, conducted by researchers at Columbia University Medical Center, found several genes that contribute to common forms of pediatric epilepsy. These discoveries may be a huge step in advancing precision medicine in epilepsy, as they will allow for the use of more personalized therapies targeted toward children with specific genetic variations.
Survey Results: Wishes of Elliott Scientific Roundtable - 2016
December 26th, 2016
In preparation for the 2nd SCN8A Scientific Roundtable sponsored by Wishes for Elliott, which took place in Houston on December 1st, we created a survey to further inform clinicians who treat SCN8A patients, and scientists carrying out research to better understand SCN8A and to find new treatments. Please take a look at the results which are available here as a slide show.
Given this success we have decided to leave the Survey open on our publicly available link for any families who have not had a chance to fill it out. Thank you for making time in your busy schedules to help clinicians and scientists better understand SCN8A, and to improve treatments and prognosis for our children.
EEG in the ED: A role in initiating anticonvulsant therapy?
December 9, 2016
This article highlights several recent studies that have explored the aid of electroencephalograms (EEGs) in the diagnosis of epilepsy, brain atrophy in super-refractory status epilepticus (SRSE) despite seizure control, the disconnect in dental care of epileptic patients, and treatment of first-time seizures in adults. Several other studies are highlighted, including a discussion on how questionnaires can increase the detection of obstructive sleep apnea (OSA), details on the poor prognosis for sleep-related hypermotor epilepsy (SHE), and an analysis of headache as an epileptic aura. The Intellectual Disability Task Force of the Neuropsychiatric Commission of the ILAE also compiled a document which addresses concerns of meeting the needs of people with comorbid behavioral disorder, intellectual disability, and epilepsy.
Doctors and Parents Try to Unravel SCN8A Genes Roles in Epilepsy
May 18, 2015
One year ago there were a dozen known cases of children with a mutation on the SCN8A gene; now, there are more than 90...
The Gene Detective's Journey
Sep 11, 2014
University of Arizona geneticist Michael Hammer takes his research in a new direction -- in search of the cause of his daughter's disorder.
A father's search finds reason for daughter's epilepsy
Jun 16, 2013
At 6 months old, the signs of Shay Emma Hammer's epilepsy were subtle - eye blinks and tremors in her tiny hands. She missed developmental milestones - rolling over, sitting up, crawling, walking.
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4/25/2017 3:45:02 PM