Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 2909-2913 |
| Number of pages | 5 |
| Journal | Epilepsia |
| Volume | 64 |
| Issue number | 11 |
| DOIs |
|
| State | Published - Nov 2023 |
Funding
A.L.G. has received research funding from Praxis Precision Medicines, Tevard Biosciences, and Neurocrine Biosciences. A.B. has received honoraria for presenting at educational events, serving on advisory boards, and consultancy work for Biocodex, Jazz/GW Pharma, Encoded Therapeutics, Stoke Therapeutics, Nutricia, and UCB/Zogenix. D.L. has performed consulting work for and/or received research support from Encoded Therapeutics, Taysha Therapeutics, Grin Therapeutics. E.L.H. and A.M.G. have no conflicts of interest.
Keywords
- bioinformatics
- channelopathy
- epilepsy
- genetics
- validation
- variant
ASJC Scopus subject areas
- Clinical Neurology
- Neurology