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What 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.

RESOURCES

Standards for interpreting variants (American College of Medical Genetics)

Gene Reviews

ClinVar

GeneMatcher

Gnomad

ClinGen

ILAE genetic literacy series

EpiPred website for STXBP1 (developed by EpiMVP project - will be final by end of July)

Think Genetics paper – genetic testing in South Africa project

Link 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].

The 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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This episode covers a wide scope of issues, including treatment options, treatment response, prognosis and the role of seizures versus the underlying etiology, most common etiologies for different age groups, new-onset refractory status (NORSE), and the prevalence and special considerations of non-convulsive status epilepticus.

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].

The 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.

Send comments and feedback

In use since the 1970s, valproate is highly effective for genetic generalized epilepsies and some forms of pediatric epilepsy. The medication also is associated with a 10% risk of birth defects in children exposed to it in utero, as well as a 30% to 40% risk of neurodevelopmental issues, including autism. Sharp Waves spoke with Dr. Tony Marson about the reproductive risks for women and men taking valproate, discussing UK policies meant to ensure appropriate prescription of valproate and communication about its risks. The recent policy regarding men who take valproate, and the evidence used to support that policy, is discussed near the end of the episode.

Since the episode was recorded, the UK has changed its policy regarding men taking valproate; see this link for more information: February 2025 update on valproate policy in the UK

UK Drug Safety Update page - June 2025

February 2025 update on valproate policy in the UK

Regulatory safety and educational materials on valproate - for health care professionals and patients

Public assessment report: Managing reproductive risks in males under 55 taking valproate

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].

The 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.

Send comments and feedback

ILAE's updated seizure classification position paper was published in Epilepsia in April 2025. Sharp Waves talked with Dr. Sandor Beniczky about the updates and how they will impact research and clinical care.

The position paper is open access and available online.

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].

The 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.

Send comments and feedback

Seizures cost Stacia Kalinoski her career in broadcast journalism and forced her to give up running. In her new memoir, Kalinoski recounts her journey from first seizure in college to epilepsy surgery years later, describing her seizures, struggles with medication, and challenges coming to terms with her epilepsy.

Kalinoski's book, Racing Uphill, is available July 1, 2025 and can be ordered or pre-ordered online.

Stacia Kalinoski is an Emmy Award–winning TV news journalist from the United States whose documentary Brainstorm was nominated for a regional Emmy Award. Before a seizure ended her broadcast journalism career, she reported for television stations in Nebraska, Oregon, and Michigan. She now shares her story as a motivational speaker.

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].

The 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.

Send comments and feedback

Work-related stress and burnout are common in physicians, with rates of burnout estimated between 25% and 60%. These stresses impact physician health, patient care, and health care systems as a whole. Sharp Waves spoke with Dr. Sheryl Haut about strategies to identify work stress and mitigate burnout.

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].

The 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.

Send comments and feedback

Microglia can have protective and also potentially harmful effects in the brain. They seem to be involved in dampening the nervous system during acute seizures – but also appear to play a role in neuronal loss and cortical thinning. Dr. Cecilie Nome spoke with Dr. Amy Brewster about the many faces of microglia and the current understanding of their role in epilepsy and seizures.

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].

The 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.

Send comments and feedback

Many of the most common concerns of people with epilepsy are topics they don't usually talk about with physicians. This is one of many findings of a study using AI to analyze more than 55,000 posts about epilepsy on Reddit. Sharp Waves spoke with the study's first author and two epilepsy advocates about the results and how they could help initiate important patient-provider conversations. 

PLEASE NOTE: This episode includes discussion of suicidal ideation. If you are in crisis, call your local emergency number or crisis hotline.

The Reddit study is freely available online; no journal subscription is required:

Bridging the conversational gap in epilepsy: Using large language models to reveal insights into patient behavior and concerns from online discussions - Fennig - 2025 - 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].

The 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.

Send comments and feedback

Music can affect emotions, spark memories, and influence mood. In cases of musicogenic epilepsy, music can trigger seizures. In other cases, music may reduce seizure frequency. Dr. Cecilie Nome talks with Dr. Phillip Pearl and Prof. Nigel Osborne about the power of music and its effects on the brain.

Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.

Links:

Nigel Osborne - Wikipedia

Personalised music as a treatment for epilepsy - Epilepsy & Behavior

Neuroscience and “real world” practice: music as a therapeutic resource for children in zones of conflict - Osborne - 2012 - Annals of the New York Academy of Sciences - Wiley Online Library

X-System Overview 

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].

The 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.

Send comments and feedback

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.

Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.

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].

The 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.