Royal Hospital for Children, Glasgow, UK.
Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Epilepsia. 2023 Nov;64(11):2909-2913. doi: 10.1111/epi.17743. Epub 2023 Aug 22.
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.
最近癫痫遗传学检测的爆炸式增长给基因变异的解读带来了挑战。通过预测或实验策略评估基因变异的功能后果有助于评估其致病性，但哪种方法最好尚未达成共识。癫痫遗传学特别兴趣小组在 2022 年 12 月的美国癫痫学会年会上举办了一个会议来讨论这个话题。会议以离子通道基因突变为例，就预测（预言）与实验确定（经验主义）变异功能的相对优势和局限性进行了辩论。本评论总结了这些讨论。
