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Media Reports
Below is a list of 24 media reports related to SCN8A epilepsy.
International SCN8A Awareness Day
2/9/2021 Article
International SCN8A Awareness Day - 2/9/21
Genome Sequencing Finds Unknown Cause Epilepsy
2/23/2012 Article
Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction. It was the time of the Human Genome Project, and it had taken armies of sequencing robots working around the clock for almost a decade to unravel the complete sequence of the human genetic code – referred to as the genome.
Years after daughter’s death, UArizona doctor on mission to treat rare epilepsy
12/5/2019 Media
After Shay died, Dr. Hammer wanted to know more than ever what was wrong.
Complex Neurocognitive Skills Delayed in Youth With SCN8A Variant Epilepsy
11/16/2019 Media
Complex neurocognitive skills, typically acquired later in development, are the most delayed skills in youth with SCN8A‐related epilepsy, according to results published in Epilepsia.
Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society
10/23/2019 Media
AES recognizes that the majority of patients with epilepsy, and their families and caregivers, want to be informed of SUDEP risk by their healthcare providers. AES encourages counseling and offers guidance for providers by proposing an evidence-based approach to counseling patients, families, and caregivers about the risk of SUDEP. The position statement addresses risk factors for SUDEP, scenarios when counseling should be considered, and recommendations on approach and content for counseling.
Genetic Evaluation of Refractory Epilepsy With a Focus on SCN8A-Related Epilepsy
10/2/2019 Media
This webinar will provide a brief overview of genetic evaluation in refractory epilepsy and specific examples of how a positive test may influence management. SCN8A-related epilepsy will be discussed in detail, with attention to epilepsy phenotype, diagnostic testing, associated co-morbidities including sudden unexpected death in epilepsy, and treatment. The password to access the webinar, is TCSF2019.
Gut Microbiome in Ketogenic Diet Protects against Epileptic Seizures
5/24/2018 Media
A high-fat ketogenic diet (KD) has been shown to help treat refractory epilepsy, and researchers at UCLA have now found that gut bacteria help to mediate these protective effects. It was also shown that the KD-related microbiota altered the hippocampal gamma-aminobutyric acid (GABA) –(inhibitory neurotransmitter) to glutamate (excitatory neurotransmitter) ratio.
Tracking Down the Roots of Childhood–Onset Epilepsy
3/26/2018 Media
Dr. Hammer's lab originally focused on how evolution affected genetic variation, this focus shifted to SCN8A when his daughter was diagnosed with a rare form of epilepsy. To learn more about his lab's journey click here.
Minimally Invasive Brain Implant Lessens Seizures
2/20/2018 Media
The FDA-approved brain-responsive neurostimulation (RNS) system is emerging as a non-pharmacological way to treat seizures. The device is approved for patients with seizures "coming from up to two different locations in the brain" and clinical trials have showed that patients treated with this device had significant seizure reduction in the first year.
Cannabidiol Reduces Drop Seizures in Lennox-Gastaut Syndrome
2/2/2018 Media
Add-on cannabidiol has been shown to be associated with a reduction in monthly drop seizure frequency in a Lennox-Gastaut syndrome patient population. Patients with treatment-resistant Lennox-Gastaut syndrome were randomized to either cannabidiol or placebo in this clinical trial. The mean reduction in monthly seizures was 43.9% in the cannabidiol group, and 21.8% in the placebo group.
Neurology Today Conference Reporter: AES Annual Meeting: Cannabidiol Lowers Seizure Rates, With or Without Clobazam
12/9/2017 Media
There have been concerns about the true success of clinical trials using cannabidiol (CBD) in children with Dravet and Lennox-Gastaut syndrome since it was thought that a possible clobazam (CLB) interaction may have contributed to the positive results. It was shown that at follow-up, patients who had received CBD and were not taking CLB had a nearly identical reduction in drop-seizure frequency as those who received CBD and were taking CLB.
MRI brainstem volume loss predicts SUDEP
10/17/2017 Media
While SUDEP is the leading cause of death in focal epilepsy patients, there is still no way to know who might be at risk. MRI findings for 18 patients with focal-onset epilepsy, 27 SUDEP cases, and 11 controls were examined and found that partients who died from SUDEP had widespread brainstem volume loss in their last MRI before death. This work can help identify patients who are at risk and help alleviate that risk.
Medicine Researchers Discover What Triggers Epilepsy in the Body
10/12/2017 Media
A new study showed that a lack of the protein "CLOCK" plays a role in several forms of epilepsy. CLOCK is an acronym for circadian locomotor output cycles kaput and is a central regulator of the body's circadian rhythm of sleeping and waking. This finding may be a new therapeutic approach for severe cases of epilepsy.
'Minibrains' In A Dish Shed A Little Light On Autism And Epilepsy
8/10/2017 Media
Tiny, 3-D clusters of human brain cells grown in a petri dish are providing hints about the origins of disorders like autism and epilepsy.
Doctors appear to have reached unexpected consensus in prescribing pediatric anti-seizure medications
7/19/2017 Media
While there are numerous anti-seizure medications on the market (20+), it appears that doctors in the United States have reached a consensus about what medications to prescribe for pediatric patients. Researchers have reported that 63% of patients with a newly diagnosed non-syndromic epilepsy are prescribed levetiracetam as a first choice. Levetiracetam as a first choice is a North American phenomenon, whereas outside the continent, carbazepine and oxcarbazepine are more frequently prescribed.
Epilepsy and Cannabinoids: A Literature Review
4/25/2017 Media
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.
LGS Foundation Announces New Partnership With CURE's Epilepsy Genetics Initiative (EGI) Program
3/16/2017 Media
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
3/3/2017 Media
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
2/9/2017 Media
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
2/9/2017 Media
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
1/12/2017 Media
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
12/26/2016 Media
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.
EEG in the ED: A role in initiating anticonvulsant therapy?
12/9/2016 Media
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
5/18/2015 Media
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
9/11/2014 Media
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
6/16/2013 Media
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.
Endocannabinoid system stimulation may be potential approach to treatment of epilepsy
3/16/0017 Media
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.
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