Ask The Expert On Demand Webinar: Making Sense of the Alphabet Soup: Practical Tips on Genetic Testing in Pediatric and Adult Patients with Epilepsy-Ask The Expert On Demand Webinar: Making Sense of the Alphabet Soup: Practical Tips on Genetic Testing in Pediatric and Adult Patients with Epilepsy

Ask The Expert On Demand Webinar: Making Sense of the Alphabet Soup: Practical Tips on Genetic Testing in Pediatric and Adult Patients with Epilepsy

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Video Summary

The webinar, "Making Sense of the Alphabet Soup: Practical Tips on Genetic Testing in Pediatric and Adult Patients with Epilepsy," covers the importance and methodology of genetic testing in epilepsy. Dr. Anne Paduri, a neurology professor at Harvard Medical School and director at Boston Children's Hospital, highlights the urgent need to understand the genetic causes of epilepsy due to the limitations of current treatments, where one-third of patients do not respond to available medications. The session emphasizes the evolving genetic landscape characterized by a leap from recognizing a few epileptic genes to a complex array of known genetic factors contributing to epilepsy. Dr. Paduri elaborates how advancements in genetic sequencing, such as exome sequencing or broad approaches like trio exomes, significantly improve the diagnosis rates, especially in early-onset and intellectually-disabled patients, with up to 50% yielding actionable genetic information. Practical examples illustrate how precise genetic identification can guide treatment decisions, avoid ineffective medications, and offer potential participation in clinical trials for cutting-edge therapies, including anti-sense oligonucleotide therapies for syndromes like Dravet. The overarching aim is to integrate genetic insights with clinical practice to enhance individualized patient care, stressing that understanding and correctly classifying the genetic background of epilepsy is crucial for effective treatment and management. The discussion encourages a move towards a standardized approach to genetic testing, supporting its efficacy in improving long-term patient outcomes.

Keywords

genetic testing

epilepsy

Dr. Anne Paduri

neurology

genetic sequencing

treatment decisions

clinical trials

anti-sense oligonucleotide therapies

individualized patient care

standardized approach