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

UNITED STATES
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Mohammed Ilyas

Pediatric Epileptologist; Associate Professor of Pediatrics

University of Missouri Kansas City

UNITED STATES
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Liu Lin Thio

Professor of Neurology, Pediatrics and Neuroscience

Washington University in Saint Louis School of Medicine

UNITED STATES
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Andreas Brunklaus

-

UNITED KINGDOM
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