Genetic testing for epilepsy in low-resource regions

In lower- and middle-income countries, raising awareness of genetic etiologies in epilepsy and genetic testing options may ultimately shift national priorities toward making genetic testing part of the standard of care. Dr. Parthvi Ravat spoke with Dr. Jo Wilmshurst and Dr. Alina Esterhuizen about initiatives to increase awareness of genetics and genetic testing in epilepsy, including a decision tree model for epilepsy care in resource-restricted settings that has been implemented in Africa.Publication mentioned in the episode:Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting  Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

As a neurological emergency, status epilepticus (SE) requires timely diagnosis and treatment. A US study found that 10% of people with SE were not diagnosed by emergency services. Among those who were diagnosed in an ambulance, 20% did not receive any first-line treatment, while others received lower-than-recommended doses. Sharp Waves spoke to senior author Dr. Elan Guterman about the study.Publications mentioned during the conversation:Status Epilepticus Identification and Treatment Among Emergency Medical Services Agencies  JAMA Neurology A Comparison of Lorazepam, Diazepam, and Placebo for the Treatment of Out-of-Hospital Status Epilepticus | New England Journal of MedicineParamedic-Identified Enablers of and Barriers to Pediatric Seizure Management: A Multicenter, Qualitative Study: Prehospital Emergency CareEmergency response to out-of-hospital status epilepticus | Neurology Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

Folic acid supplementation is recommended for all women with epilepsy who may become pregnant. However, there is no agreed-upon dose for women with epilepsy taking antiseizure medication, and there may be risks of high-dose (>1 mg/day) folic acid supplementation. Dr. Bruna Nucera spoke with Dr. Marte Helene Bjørk about the risks and benefits of folic acid supplementation and what this means for pregnant women with epilepsy. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

High-frequency oscillations (80 to 500 Hz) are being studied as biomarkers of epileptogenic areas in the brain, as well as markers to be used in epilepsy surgery. Dr. Cecilie Nome leads a discussion about clinical research on HFOs and areas of uncertainty, as well as the importance of basic research in helping to understand this phenomenon.Publications mentioned during the episode: Roehri Eng N, et al. High-frequency oscillations are not better biomarkers of epileptogenic tissues than spikes. 2017. Annals of NeurologyJacobs J, et al. Removing high-frequency oscillations: A prospective multicenter study on seizure outcome. 2018. NeurologyZweiphenning W, et al. Intraoperative electrocorticography using high-frequency oscillations or spikes to tailor epilepsy surgery in the Netherlands (the HFO trial): a randomised, single-blind, adaptive non-inferiority trial. 2022. Lancet NeurologyLisgaras CP et al. High-frequency oscillations (250–500 Hz) in animal models of Alzheimer's disease and two animal models of epilepsy. 2022. Epilepsia Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

There are potentially hundreds of "epilepsy genes" - but what is an epilepsy gene? How do researchers discover these genes and associate them with epilepsy? Sharp Waves spoke with Dr. Allan Bayat, a pediatric neurologist in Denmark focused on rare monogenic neurodevelopmental disorders and epilepsy. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

In the second episode of our genetics and epilepsy series, Sharp Waves explores how genetic insights can inform considerations and outcomes of epilepsy surgery. Dr. Alina Ivaniuk interviews Dr. Patrick Moloney, currently an epilepsy genomics fellow at the Chalfont Center for Epilepsy at University College London.Selected publications:Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy? Epilepsy Res 2024Genomics in the presurgical epilepsy evaluation. Epilepsy Res 2022 Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

This first episode in a multipart series on genetics in epilepsy covers the basics of genetic testing. Dr. Alina Ivaniuk interviews Dr. Ilona Krey, a physician and researcher at the Institute of Human Genetics at Leipzig University Medical Center. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

Christina Rezek and Brad Levy each have daughters who underwent epilepsy surgery, with dramatically different results. Sharp Waves talked with them about the journeys to and through epilepsy surgery, the consequences, and what they have learned.Brad Levy is a founder of Epilepsy Awareness Day at Disneyland, a free event held every November in Anaheim, California, USA. Visit epilepsyawarenessday.org for more information. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

Sharp Waves spoke with a neurologist and a cardiologist who are part of a team researching the interactions among seizures, heart function, heart health, and SUDEP. Learn more about their research.Selected publications from Drs. Lin & Fialho and colleagues:Determining factors of electrocardiographic abnormalities in patients with epilepsy: A case-control study (2017, Epilepsy Research)Maximal/exhaustive treadmill test features in patients with temporal lobe epilepsy: Search for sudden unexpected death biomarkers (2017, Epilepsy Research)Echocardiographic risk markers of sudden death in patients with temporal lobe epilepsy (2018, Epilepsy Research)Increased cardiac stiffness is associated with autonomic dysfunction in patients with temporal lobe epilepsy (2018, Epilepsia) Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

In this episode, we explore the science behind exercise as an adjunct treatment for epilepsy and debunk some common myths (spoiler alert: With very rare exceptions, exercise does NOT increase seizure risk). Dr. Ayushe Sharma talked with Dr. Jane Allendorfer, Dr. Halley Alexander, and Brian Wiedmeyer, who participated in an exercise research study.The episode refers to a 2016 report by the ILAE Task Force on Sports and Epilepsy - that report is freely available online at this link.Some of the other research papers mentioned in the episode are listed below.The relationship between physical activity and cognitive function in people with epilepsy: A systematic review Effects of physical exercise in people with epilepsy: A systematic review and meta-analysis Role of Physical Exercise as Complementary Treatment for Epilepsy and other Brain Disorders Epilepsy and exercise: An experimental study in female rats Effects of an exercise program on health of people with epilepsy: A randomized clinical trialA strength exercise program in rats with epilepsy is protective against seizuresEffectiveness of Yoga Intervention in Reducing Felt Stigma in Adults With Epilepsy Impact of exercise as a complementary management strategy in people with epilepsy: A randomized controlled trial Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: [email protected] International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.