Sharp Waves: ILAE's epilepsy podcast

• A novel patient-reported outcome measure for epilepsy: The impacts of seizures and treatment

  Send comments and feedbackIs there a fast, simple way to measure whether someone with epilepsy is doing "better" or "worse" compared with a past clinic visit? Not really. Seizure count is often considered a standard, but multiple small seizures may have less impact on someone's life than a single generalized tonic-clonic seizure. In this episode, we talk with authors of a study on an outcome measure that factors the impact of seizures as well as the impact of treatments.The study: Validation of the seizure-related impact assessment scale  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.

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• Social work in epilepsy: Closing the treatment gap and improving quality of life - Dr. Rugare Mugumbate

  Send comments and feedbackClosing the epilepsy treatment gap relies heavily on social and cultural acceptance of epilepsy as a brain disorder that can be managed with medication or other therapies. Dr. Rugare Mugumbate discusses the five disadvantages faced by people with epilepsy, as well as the important role of social workers and the need to focus on lessons learned from previous pilot projects and awareness campaigns.Dr. Mugumbate's book - Epilepsy in Resource Limited Settings: Managing Quality of Life - provides a thorough examination of the impact and understanding of epilepsy in resource-limited areas.Aimed at a wide variety of health practitioners and stuents, The book is available in multiple formats. 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.

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• Somatic genetic epilepsies: Dr. Christian Bosselmann

  Send comments and feedbackSomatic genetic epilepsies arise from mutations that occur early in fetal development. They are usually only detectable by genetic sequencing of tissue. For these epilepsies, the timing of the mutation is key: For example, research has shown that focal cortical dysplasia type IIB and hemimegaloencephaly are genetically the same disease, but arise from somatic mutations at different developmental time points. This relatively new area of research is discussed by Dr. Alina Ivaniuk and Dr. Christian Bosselmann.Resources:Analysis of 1,386 epileptogenic brain lesions reveals association with DYRK1A and EGFR (Nature Communications 2024 - C. Bosselmann et al.)Neocortical development and epilepsy: Insights from focal cortical dysplasia and brain tumours (The Lancet Neurology 2021 - I. Blumcke et al.)Contribution of somatic Ras/Raf/Mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy (JAMA Neurology 2023 - S. Khoshkhoo et al.)Somatic mosaicism and neurodevelopmental disease (Nature Neuroscience 2018 - AM D'Gama and CA Walsh)BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors (Nature Medicine 2018 - HY Koh et al.)SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics (Brain 2025 - D Lai et al.)Precise detection of low-level somatic mutation in resected epilepsy brain tissue (Acta Neuropathologica 2019 - NS Sim et al.)Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial (Epilepsia 2021 - I Blumcke et al.)Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: A retrospective multicentre cohort study (The Lancet Neurology 2020 - HJ Lamberink et al.) 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.

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• Research recap: Empiric immunotherapy for highly refractory epilepsy: Dr. Elisabeth Doran

  Send comments and feedbackIn a retrospective study of 31 patients with highly refractory epilepsy, 29% had more than a 50% reduction in seizures for at least 12 months after being treated with immunotherapy. Three of these patients became seizure free. Other than a trend toward a diagnosis of focal epilepsy, researchers did not identify any specific features predictive of treatment response. Sharp Waves spoke with the first author about the study and its implications.The study was published in Epilepsia in April 2025. 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.

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• Genetic testing: Variants of uncertain significance (VUS) - Dr. Gemma Carvill

  Send comments and feedbackWhat are variants of uncertain significance (VUS) in epilepsy genetic testing? How are they defined, and can those definitions change over time? Sharp Waves talks with Dr. Gemma Carvill as part of our genetic testing series.RESOURCESStandards for interpreting variants (American College of Medical Genetics)Gene ReviewsClinVarGeneMatcherGnomadClinGenILAE genetic literacy seriesEpiPred website for STXBP1 (developed by EpiMVP project - will be final by end of July)Think Genetics paper – genetic testing in South Africa projectLink to Sharp Waves episode on genetic testing in LMICs  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.

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