Daijiworld Media Network - London

London, Apr 16: A major international study has identified common genetic changes that could explain why some people with focal epilepsy fail to respond to standard seizure medications.

Focal epilepsy, the most prevalent form of epilepsy, causes seizures originating in a specific area of the brain. While antiseizure medications are the primary treatment, nearly one-third of patients around 20 million people globally continue to suffer seizures despite treatment, a condition known as drug-resistant epilepsy.

The research, led jointly by scientists from University College London (UCL) and UTHealth Houston, has highlighted two genetic variants in the genes CNIH3 and WDR26 that are linked to this resistance. CNIH3 plays a role in regulating brain receptors, while WDR26 is involved in various cell functions.

Published in EBioMedicine, the study analyzed the genomes of 6,826 people with epilepsy, including over 4,200 with drug-resistant epilepsy. The findings revealed that individuals carrying the specific gene variants had a significantly higher risk of their condition being unresponsive to antiseizure medications.

“These results provide a key insight into why some people have seizures that don’t respond to available drugs,” said Prof. Sanjay Sisodiya of UCL’s Queen Square Institute of Neurology.

Costin Leu, Assistant Professor at UTHealth Houston, added that recognizing these genetic signatures which are common in the general population could lead to more targeted testing and treatments.

Crucially, the genetic markers can be identified at the onset of epilepsy, potentially allowing doctors to predict drug resistance early and avoid prolonged use of ineffective treatments.

The discovery marks a promising step towards personalized epilepsy care, helping to reduce health risks and improve outcomes for millions living with the condition.