Healthcare (Commonwealth Union) – Epilepsy is one of the most common neurological conditions in the world, affecting millions of people across all ages, genders, and backgrounds. It has been described as the occurrence of recurrent, unprovoked seizures — sudden bursts of electrical activity in the brain that can vary widely in their presentation and severity.
While many people associate epilepsy with dramatic convulsions, the reality is far more complex. Seizures can range from brief moments of confusion or staring spells to full-body convulsions. Some individuals remain fully conscious during their seizures, while others may lose awareness entirely. This broad spectrum of seizure types means that epilepsy is not a one-size-fits-all condition.
Despite its prevalence, epilepsy remains misunderstood by much of the public. Myths and misconceptions persist, contributing to stigma and discrimination that can deeply affect the lives of those diagnosed with the condition. Increasing awareness and understanding is critical — not only to support individuals with epilepsy but also to promote accurate diagnoses, effective treatment, and compassionate care.
Focal epilepsy, the most common form of epilepsy, begins with seizures that originate in a specific area of the brain.
People diagnosed with this condition are typically treated with antiseizure medications. But for about one in three individuals with epilepsy — roughly 20 million people worldwide — these drugs fail to control seizures. This phenomenon, known as drug resistance, leaves many still experiencing seizures despite medication.
Drug-resistant epilepsy carries serious health consequences, including a heightened risk of sudden unexpected death and significantly greater healthcare costs.
Until recently, the reasons why antiseizure medications don’t work for some patients have remained largely unclear.
Now, a major international study published in eBioMedicine offers new insight. The research reveals compelling evidence that certain common genetic variants may play a key role in why some people develop drug-resistant epilepsy.
To uncover this, scientists analysed genetic data from two of the world’s largest epilepsy research initiatives — EpiPGX and Epi25. They examined the full genetic makeup of 6,826 individuals with epilepsy to identify differences that may influence treatment outcomes.
Notably, these genetic signatures can be identified at the time of diagnosis, rather than after multiple failed treatment attempts, making the findings particularly significant.
This advance may facilitate early identification of individuals at risk of developing drug-resistant epilepsy, enabling clinicians to tailor treatment strategies and reduce unnecessary exposure to ineffective medications and their potential adverse effects.
First author Assistant Professor Costin Leu (formerly at UCL Queen Square Institute of Neurology and currently at UTHealth Houston) indicated that their study presents the first evidence that common genetic variants — which are typically overlooked in standard clinical genetic testing — play a substantial role in the development of drug resistance in epilepsy.
“Recognising these genetic variants, which are frequent in the general population yet strongly influence treatment outcomes, underscores the need to expand genetic testing and future therapies to address polygenic epilepsy (a type of epilepsy that is influenced by multiple genes).
“Polygenic epilepsy represents the vast majority of all genetic epilepsy cases, and addressing it through genetics-informed approaches could substantially enhance personalised treatment strategies for many individuals who currently fall outside the scope of targeted genetic medicine.”
As a result of major breakthroughs in genomics, digital health, and data science, personalized medicine is already being explored in many treatments, such as rare genetic diseases, and now, increasingly, in common conditions like diabetes, heart disease.
This research was supported by the European Union’s Seventh Framework Programme and the Centers for Common Disease Genomics, with funding from the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute.
The researchers expressed their gratitude to all the people living with epilepsy — and the doctors who care for them — for making this important study possible.
