Unexplained Epilepsy: Best Practices for Exome Sequencing as a First-Line Testing Option

Опубликовано: 31 Октябрь 2024
на канале: GeneDx
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In this webinar, attendees can expect to learn how exome sequencing can guide clinical decisions for patients with unexplained epilepsy (seizures not attributed to an acquired etiology, such as trauma or infection).

Dr. Isabella Herman of Boys Town National Research Hospital, an expert on neurogenetics and rare disease, reviews the progress that has been made in the field of epilepsy genetics and discusses the evidence-based practice guidelines from the National Society of Genetic Counselors (NSGC), which are endorsed by the American Epilepsy Society (AES), that recommend exome sequencing as a first-line option for patients with unexplained epilepsy.

The presentation covers the following:
An overview of epilepsy and genetic testing
The evidence that informed the practice guidelines for genetic testing in patients with unexplained epilepsy
The clinical and personal utility of genetic testing for this patient population and their families
Case studies
Considerations for implementing genetic testing into clinical practice using a guideline-driven approach


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