| Title: | Elucidating the complex interplay between protective and risk factors in determining epilepsy liability |
| Lead Institution: | University Medical Center Utrecht |
| Principal investigator: |
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About
Epilepsy, a hereditary neurological disorder affecting many, remains a puzzle due to its complex genetic roots. Recent studies have identified numerous genetic markers linked to epilepsy risk, yet the distinction between risk and protective variants remains unclear. Even in rare cases where known epilepsy-related genes are present, some individuals remain unaffected. It's unknown if this resistance is due to environmental factors, chance, or specific genetic elements providing protection. This study aims to untangle this complexity by investigating the interplay between genetic risk and protective factors in determining why some individuals develop epilepsy while others remain healthy. Employing data from the UK Biobank, we will utilize advanced genetic analyses, including polygenic risk scores, to examine the genetic profiles of individuals with and without epilepsy-related genetic variants. Our focus is on identifying genetic factors that may protect against epilepsy. By comparing individuals with and without known epilepsy-related genes, we hope to uncover novel variants associated with protection against epilepsy. This comprehensive analysis of the UK Biobank dataset, encompassing genetic and phenotype data from participants, seeks to shed light on whether protection against epilepsy arises from specific protective genetic traits or the absence of risky ones. The anticipated outcome of this research is a clearer understanding of how epilepsy risk and protective variants interact, offering insights into predicting who is most susceptible to developing epilepsy. Ultimately, this knowledge may inform the development of targeted drugs and personalized treatments, contributing to a future where epilepsy can be more effectively managed and prevented.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 18938 | Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background | Remi Stevelink (+5) | 2025 | Epilepsia |
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