A global study led by researchers at UCL in London and UTHealth Houston has shown that certain genetic variants might make individuals with focal epilepsy less responsive to seizure medications. Focal epilepsy, the most common form of epilepsy, originates in one part of the brain and presents significant treatment challenges for approximately one-third of those affected worldwide, as current antiseizure medications prove ineffective.
A team studied genetic data from 6,826 people with epilepsy, drawing from the EpiPGX and Epi25 projects. Among these individuals, 4,208 had drug-resistant epilepsy, while 2,618 successfully controlled their seizures with medication. The study, published in eBioMedicine, revealed that genetic variants in two genes, CNIH3 and WDR26, are associated with an increased risk of drug resistance in focal epilepsy, potentially impacting the efficacy of antidepressant medications.
Senior author Sanjay Sisodiya, MBBS, PhD, from UCL Queen Square Institute of Neurology, stated, "The findings of our study offer new insights about why some people have seizures that are resistant to existing antiseizure medications." These findings could aid doctors in predicting drug resistance earlier and developing new treatments.
First author Costin Leu, PhD, from McGovern Medical School at UTHealth Houston, noted, "Our study provides the first evidence that common genetic variants — usually not addressed in clinical genetic testing — significantly contribute to drug resistance in epilepsy."
This research, part of the European Union’s Seventh Framework Programme and funded by the National Institutes of Health, is noteworthy for its potential to enhance personalized treatment strategies by targeting polygenic epilepsy, which involves multiple genes and constitutes the majority of genetic epilepsy cases.
