Alica M. Goldman
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Articles (10)
Year:
2024
Year:
2024
The recent explosion of epilepsy genetic testing has created challenges for interpretation of gene variants. Assessments of the functional consequences of genetic variants either by predictive or experimental strategies can contribute to estimating pathogenicity, but there is no consensus on which approach is best. The Special Interest Group on Epilepsy Genetics hosted a session during the Annual American Epilepsy Society Meeting in December 2022 to discuss this topic. The session featured a debate of the relative advantages and limitations of predicting (prophecy) versus experimentally determining (empiricism) variant function using ion channel gene variants as examples. This commentary summarizes these discussions.
Year:
2023
Year:
2022
Year:
2022
Year:
2022
Year:
2022
Year:
2022
Year:
2021
Year:
2021
Collaborators (4)
Alfred L George
Northwestern University Feinberg School of Medicine
Mohammed Ilyas
Pediatric Epileptologist; Associate Professor of Pediatrics
University of Missouri Kansas City
Liu Lin Thio
Professor of Neurology, Pediatrics and Neuroscience
Washington University in Saint Louis School of Medicine
Andreas Brunklaus
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