Genetic Factors Identified in Drug-Resistant Epilepsy

Background

Approximately one-third of people with epilepsy do not respond to currently available anti-seizure medications, a condition known as drug-resistant epilepsy (DRE). Despite the development of over 25 different medications, the proportion of patients with drug-resistant epilepsy has remained unchanged over time. The underlying causes of drug resistance in epilepsy have been largely unknown, limiting treatment options for affected patients. 

Research

FutureNeuro researchers, working with international collaborators, analysed the genetic makeup of nearly 7,000 individuals with epilepsy to understand why some patients respond to treatment while others do not. The teams compared patients whose seizures were well-controlled with medication against those who continued to have seizures despite treatment. 

For the first time, the research identified genetic factors that influence drug response in epilepsy. The team discovered that certain genetic variations can protect against drug resistance, specifically in focal epilepsy – the most common form where seizures originate from one area of the brain. These protective genetic factors are present in approximately one in five people. 

The findings show that genetics plays a measurable role in determining whether epilepsy treatments will be effective, providing concrete evidence for what clinicians have long suspected – that some patients may be biologically predisposed to drug resistance. 

Potential Impact

This study provides the first evidence of common genetic variants contributing to drug resistance in epilepsy. The findings suggest that genetic factors influence treatment response and may inform future personalised medicine approaches. Understanding these genetic mechanisms could guide the development of new therapeutic strategies and help identify patients at higher risk of drug resistance. 

The research also demonstrates that focal and generalised epilepsies have distinct genetic architectures, supporting the need for subtype-specific treatment approaches in clinical practice and drug development.