“New Study Reveals Genetic Factors That Predict Epilepsy Risk”
A new study has shed light on how genetic factors can help predict the likelihood of developing epilepsy, a neurological disorder that affects about 1% of the global population, particularly children and the elderly. The research focused on polygenic risk scores (PRSs), which measure the cumulative effect of multiple genetic variants on an individual’s risk for specific diseases. By analyzing extensive health records from over 700,000 people in Finland and Estonia, the researchers found that individuals with a high genetic risk for generalized epilepsy (referred to as PRSGGE) had a notably increased risk of developing the condition—specifically, a 73% higher risk per standard deviation increase in their PRSGGE.
Interestingly, the study highlighted that this genetic risk was especially pronounced in females and those who experienced epilepsy onset at a younger age. This suggests that genetic predispositions may interact with demographic factors such as sex and age, potentially influencing the development and manifestation of the disorder. The findings also indicated a more modest genetic influence for focal epilepsy, which arises from specific brain areas, rather than being broadly generalized.
The implications of this research are significant, especially in clinical settings. Currently, diagnosing epilepsy can be quite challenging and often relies on electroencephalograms (EEGs), which can vary in accuracy. With the introduction of genetic PRS as a biomarker, physicians may gain an additional tool to assess an individual’s risk of developing epilepsy after experiencing a first seizure. The study showed that those with a high PRSGGE after an unexplained seizure had a much greater likelihood of being diagnosed with epilepsy within ten years compared to those with lower scores.
Ultimately, while the absolute risk of developing epilepsy remains relatively low—around 1%—for those with a high genetic risk, identifying these individuals could lead to more proactive monitoring and treatment options. As genetic testing becomes more integrated into medical practice, these findings could help improve the accuracy and timeliness of epilepsy diagnoses, potentially saving lives and enhancing quality of life for affected individuals.