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** Epilepsy Research
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** News
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April 2025
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This month, we share articles and abstracts which are furthering the study of epilepsy and bringing the world closer to a cure.
* First of its Kind Study Identifies Metabolic Defects in Dravet Syndrome ([link removed])
* Mayo Clinic Study Highlights a New Approach to Treating Drug-Resistant Epilepsy ([link removed])
* Could an Arthritis Drug Unlock Lasting Relief from Epilepsy and Seizures? UW–Madison Researchers See Promising Results in Mice. ([link removed])
* Circumstances Surrounding Sudden Unexpected Death in Epilepsy in Children: A National Case Series ([link removed])
** All of the research featured in this update was conducted by CURE Epilepsy grantees. Our donors and supporters allow us to not only seed the most innovative, promising science, but also invest in scientists, including the next generation of epilepsy researchers. Make your gift today to keep progress moving forward.
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** First of its Kind Study Identifies Metabolic Defects in Dravet Syndrome
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Featuring work from Drs. Kelly Knupp and Manisha Patel
Recent research has identified defects related to metabolism in children with Dravet syndrome. Dravet syndrome is a severe form of epilepsy that is associated with developmental delays and severe seizures. It has long been recognized for its neurological symptoms, but its underlying metabolic issues, especially at the cellular level, have not been extensively explored until this study.
“It’s been proven that some children with Dravet syndrome respond to ketogenic diets, which suggests that energy metabolism is somehow involved in the condition,” said Manisha Patel, PhD, associate dean for research at the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences.
In the pilot study, her team used blood-derived immune cells from eight children with Dravet syndrome to create lymphoblast cell lines (LCLs). The team then compared these LCLs to age- and sex-matched control LCLs to explore whether the cells from children with the condition exhibit different energy metabolism characteristics.
“By using the LCLs, we’re able to look at patients with a variety of mutations in a non-invasive way. This gets us closer to a full picture of what’s happening in their bodies and phenotype that may be causing their seizures and severe symptoms,” said co-author Kelly Knupp, MD.
Learn More ([link removed])
** Mayo Clinic Study Highlights a New Approach to Treating Drug-Resistant Epilepsy
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Featuring the work of Dr. Greg Worrell
Researchers have developed an innovative deep brain stimulation (DBS) platform that can reduce seizures and also improve memory and sleep – two common challenges for people with epilepsy. “Using an implanted investigational device, the team continuously monitored brain activity with AI-driven seizure and sleep tracking,” says Gregory Worrell, MD, PhD, Mayo Clinic neurologist and co-lead author of the study. “A cloud-based platform simultaneously assessed participants’ behavior, memory, and mood at home. This real-time data enables precise tuning of stimulation settings, maximizing benefits while minimizing side effects.”
The researchers monitored five patients with temporal lobe epilepsy throughout their DBS treatment. The system, provided as part of the NIH’s BRAIN Initiative, allowed patients to track their brain activity and symptoms remotely, providing doctors with detailed, real-world data to fine-tune treatments. This technology could lead to more effective treatments for drug-resistant epilepsy and could be expanded to treat other neurological and psychiatric disorders.
“Combining neuroscience, engineering, and artificial intelligence, our work is paving the way for more personalized and effective treatments for epilepsy and other brain disorders,” says Dr. Worrell.
Learn More ([link removed])
** Could an Arthritis Drug Unlock Lasting Relief from Epilepsy and Seizures? UW–Madison Researchers See Promising Results in Mice.
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Featuring work of Dr. Avtar Roopra
A drug typically prescribed for arthritis halts brain-damaging seizures in mice with epilepsy, according to researchers in the lab of Avtar Roopra, PhD at the University of Wisconsin–Madison. The drug, called tofacitinib, also restores short-term and working memory lost to epilepsy in the mice and reduces inflammation in the brain caused by the disease. If the drug proves viable for people with epilepsy, it would be the first to provide lasting relief from seizures even after people stop taking it.
On their way to identifying tofacitinib’s potential in epilepsy, researchers sifted through thousands of genes expressed in millions of cells in the brains of mice with and without epilepsy. They found a protein called STAT3, key to a cell signaling pathway called JAK, at the center of activity in the seizure-affected mouse brains. Meanwhile, researchers had also unearthed a study of tens of thousands of arthritis patients in Taiwan that described diseases associated with arthritis. It turns out, epilepsy was much more common among those arthritis patients than people without arthritis — but surprisingly less common than normal for the arthritis patients who had been taking anti-inflammatory drugs for more than five-and-a-half years.
“If you’ve had rheumatoid arthritis for that long, your doctor has probably put you on what’s called a JAK-inhibitor, a drug that’s targeting this signaling pathway we’re thinking is really important in epilepsy,” says Olivia Hoffman, lead author of the study and a postdoctoral researcher in Roopra’s lab.
The UW researchers ran a trial with their mice, dosing them with the JAK-inhibitor tofacitinib following the administration of a brain-damaging drug that puts the mice on the road to repeated seizures. In the lab mice, there’s usually a lull of weeks of relatively normal time between the brain damage and what the researchers call “reignition” of seizures. They devised a 10-day course of tofacitinib to start when the mouse brains fell out of their lull and back into the chaos of seizures.
Learn More ([link removed])
** Circumstances Surrounding Sudden Unexpected Death in Epilepsy in Children: A National Case Series
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Featuring the work of Dr. Elizabeth Donner
The largest pediatric case series on sudden unexpected death in epilepsy (SUDEP) to date was undertaken by Dr. Elizabeth Donner and colleagues to identify clinical factors that may be associated with SUDEP in childhood.
Pediatric SUDEP cases were studied, including data on demographics, epilepsy history, comorbidities, and circumstances surrounding death. Forty-nine pediatric SUDEP cases were analyzed. The study found that the median age at death was 8 years. Twenty-two had tonic–clonic seizures within the last six months prior to death, while seven children had no tonic–clonic seizures in their lifetime. Two-thirds of children were treated with ≥2 antiseizure medications, and most had genetic etiologies. Similar to adult cohorts, death was often unwitnessed.
SUDEP occurred in children of all ages, including infants, with a spectrum of epilepsies with and without neurodevelopmental impairment. Seventeen children had a recent infection, which could decrease seizure threshold and trigger a terminal seizure. Times of increased seizure risk could warrant heightened surveillance for SUDEP. However, further research is needed to determine the significance of this finding.
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** Check out our latest:
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