New Delhi– A new international study has identified common genetic variants that may explain why some individuals with focal epilepsy do not respond to standard seizure medications.
Focal epilepsy, the most common form of epilepsy, is characterized by seizures that originate in a specific area of the brain. While anti-seizure medications are the primary treatment, they are ineffective in about one-third of patients—affecting approximately 20 million people worldwide. This condition, known as drug-resistant epilepsy, is linked to greater health risks, including a significantly increased likelihood of sudden unexpected death in epilepsy (SUDEP) and elevated healthcare costs.
Researchers from University College London (UCL) in the UK and UTHealth Houston in the US found that two specific genetic variants—located in the genes CNIH3 and WDR26—are associated with resistance to seizure medications. CNIH3 plays a role in regulating brain receptor function, while WDR26 is involved in several cellular processes.
Published in the journal EBioMedicine, the study revealed that individuals with these variants were more likely to experience drug resistance in focal epilepsy, and that these genetic markers influenced how patients responded to treatment.
“Our study provides new insights into why some patients experience seizures that are resistant to currently available anti-seizure medications,” said Professor Sanjay Sisodiya of UCL’s Queen Square Institute of Neurology.
“These genetic variants are relatively common in the general population, but they have a strong impact on treatment outcomes,” added Dr. Costin Leu, Assistant Professor at UTHealth Houston. “This highlights the importance of expanding genetic testing and developing future therapies tailored to polygenic epilepsy—a form influenced by multiple genes.”
The researchers analyzed genomic data from 6,826 individuals with epilepsy. They compared 4,208 people with drug-resistant epilepsy to 2,618 patients whose seizures were effectively controlled by medication.
Importantly, the team noted that these genetic markers can be identified at the time of diagnosis—well before multiple failed medication trials—potentially allowing for more personalized and effective treatment strategies. Early identification could help avoid unnecessary exposure to ineffective drugs and their side effects. (Source: IANS)
