New Delhi: Epilepsy, a chronic neurological disorder characterized by recurrent seizures, affects approximately 50 million people globally, with nearly 10 million cases in India, according to the World Health Organization (WHO). This makes epilepsy the second most common neurological condition worldwide. In India, with a prevalence of about 1% of the population, the condition poses a significant healthcare burden, particularly in resource-constrained regions where awareness and treatment options remain limited.
Dr Anup Rawool, Associate Director of Medical Genetics and Head of Scientific and Medical Affairs, at MedGenome, said, “Epilepsy arises due to a combination of genetic and environmental factors, with genetics contributing to about 70–80% of cases, as reported in recent studies. Acquired causes, including stroke, traumatic brain injuries, and infections such as neurocysticercosis, account for the remaining 20–30%. Although most cases lack a family history, mutations in genes like SCN1A, SCN2A, KCNQ2, and DEPDC5 have been linked to specific epilepsy syndromes. For instance, Dravet syndrome, often caused by mutations in the SCN1A gene, presents with severe pediatric epilepsy that is resistant to standard medications.”
Epilepsy encompasses a wide range of seizure types, from mild episodes of staring or confusion to severe convulsions and loss of consciousness. Psychological symptoms, including fear, anxiety, and déjà vu, are also common. While nearly half of all cases lack an identifiable cause, known triggers include traumatic head injuries, brain tumors, stroke (especially in individuals over 35 years old), and developmental conditions such as autism, which increase susceptibility to epilepsy. In India, infections like tuberculosis meningitis and neurocysticercosis are significant contributors to acquired epilepsy, particularly in rural areas.
Advances in Genetic Research: Redefining Diagnosis and Treatment
Genetic research has significantly advanced our understanding of epilepsy, revealing that mutations in specific genes can cause syndromes like Dravet syndrome, Lennox-Gastaut syndrome, and childhood absence epilepsy. For example, SCN1A mutations disrupt sodium channels in neurons, leading to abnormal brain activity. The advent of genetic testing has enabled more precise diagnoses and tailored treatments, such as customized medication regimens, dietary interventions like ketogenic diets for drug-resistant epilepsy, and prenatal screening in families with a history of epilepsy. However, the high cost and limited availability of genetic testing, particularly in developing countries like India, pose major challenges. Initiatives to subsidize testing and raise awareness are crucial for addressing these barriers and improving access to care.
India’s Genetic Diversity: A Resource for Breakthrough Research
India’s genetic diversity, shaped by millennia of migration and intermarriage, is both a challenge and an opportunity for epilepsy research. Studies conducted by institutions like the ICMR have identified population-specific mutations that could inform treatment strategies. For example, collaborative efforts between Indian and international institutions have uncovered mutations in genes like CACNA1H and CHRNA4, providing insights into epilepsy’s genetic underpinnings. Expanding such initiatives could pave the way for more effective treatments and improved patient outcomes.
Breaking Barriers: Combating Stigma and Raising Awareness
Stigma remains a significant challenge for epilepsy patients in India, often resulting in social isolation and reduced access to care. Addressing this requires educational programs that demystify epilepsy and dispel myths, particularly in rural areas, community support initiatives that engage healthcare workers to foster inclusive attitudes and school-based awareness that involves teaching children and educators about epilepsy can help normalize the condition. These efforts can empower individuals with epilepsy to seek timely treatment and lead fulfilling lives.
Future Directions: Toward a Comprehensive Solution
The integration of genetic insights into epilepsy care represents a paradigm shift in managing the condition. By focusing on prenatal and family screening that reduces the burden of inherited epilepsy syndromes and leveraging India’s genetic diversity to identify unique mutations through continued research.
As genetic research continues to evolve, India stands at the forefront of a potential revolution in epilepsy care. By leveraging the country’s unique genetic landscape, scientists can identify genetic risk factors that influence the onset of epilepsy, ultimately offering hope for better treatments and improved outcomes for those affected by this condition. Personalized medicine, driven by genetic insights, could transform the lives of millions of people with epilepsy in India and across the globe.
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