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

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

Send comments and feedback 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 J...

Jaksot(102)

Valproate and reproductive risks in women and men with epilepsy: Dr. Tony Marson

Valproate and reproductive risks in women and men with epilepsy: Dr. Tony Marson

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% r...

21 Heinä 202522min

ILAE Updated seizure classification: Dr. Sandor Beniczky

ILAE Updated seizure classification: Dr. Sandor Beniczky

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 wil...

7 Heinä 202513min

Documentary filmmaker confronts epilepsy in a new memoir: Stacia Kalinoski

Documentary filmmaker confronts epilepsy in a new memoir: Stacia Kalinoski

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 ...

23 Kesä 202515min

Work-life balance: Dr. Sheryl Haut

Work-life balance: Dr. Sheryl Haut

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 heal...

9 Kesä 202522min

The role of microglia in epilepsy: Hero, villain, or both? Dr. Amy Brewster

The role of microglia in epilepsy: Hero, villain, or both? Dr. Amy Brewster

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 ap...

27 Touko 202519min

Language models reveal concerns of people with epilepsy in online discussions

Language models reveal concerns of people with epilepsy in online discussions

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 analyz...

12 Touko 202531min

Music, epilepsy, and the brain: Dr. Phillip Pearl & Prof. Nigel Osborne

Music, epilepsy, and the brain: Dr. Phillip Pearl & Prof. Nigel Osborne

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 frequen...

28 Huhti 202526min

Genetic testing for epilepsy in low-resource regions

Genetic testing for epilepsy in low-resource regions

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...

14 Huhti 202524min

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