Send comments and feedback Is 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: Validat...
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Send comments and feedback Is 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: Validat...
Genetic testing: Variants of uncertain significance (VUS) - Dr. Gemma Carvill
Sharp Waves: ILAE's epilepsy podcast
34 minutes
2 months ago
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...
Sharp Waves: ILAE's epilepsy podcast
Send comments and feedback Is 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: Validat...
