Overview
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Explore the future of epilepsy genetic testing in this informative webinar presented by Amanda Berger and Bridgette Tippin Davis. Gain insights into the genetics of epilepsy, including specific syndromes like Dravet syndrome and infantile spasms. Learn about tiered testing approaches, EpiFirst panels, and neonatal seizure testing. Discover the early evidence for precision medicine in epilepsy treatment and understand the testing algorithms for various epilepsy types. Delve into the advancements in genetic testing technologies, comparing Sanger sequencing to Next-Generation Sequencing (NGS). Understand the intricacies of NGS visualization, tiled primers, and targeted microarrays. Explore the importance of family studies and stepwise testing approaches in epilepsy diagnosis and management. This comprehensive presentation covers a wide range of topics, from basic epilepsy concepts to cutting-edge genetic testing methodologies, providing valuable knowledge for healthcare professionals and researchers in the field of epilepsy genetics.
Syllabus
Introduction
What is epilepsy
Genetics of epilepsy
Dravet syndrome
tiered testing
epifirst panels
neonatal seizures
EPI birth neonate panel
febrile seizures
Early evidence for precision medicine
infantile spasms
testing algorithms
early indications
focal epilepsy
progressive myoclonic epilepsy
medication management
multigene testing
DN M1
EPI Next
Stepwise Testing
Sanger vs NGS
NGS Visualization
How Does NGS Work
Tiled Primers
Targeted Microarray
Report
Family Studies
Conclusion
Taught by
Ambry Genetics