RECENT ADVANCES IN MOLECULAR BIOMARKERS FOR EARLY DETECTION OF EPILEPSY: A NARRATIVE REVIEW

Abstract

Background: Epilepsy is a common and often debilitating neurological disorder, affecting over 50 million people worldwide. Despite advances in imaging and electrophysiology, early diagnosis remains challenging, particularly in patients without clear clinical manifestations. Molecular and genetic biomarkers offer a promising avenue for improving early detection, risk stratification, and individualized treatment strategies in epilepsy.

Objective: This narrative review aims to explore recent advances in the identification and validation of molecular and genetic biomarkers for the early diagnosis and management of epilepsy, with a focus on their clinical applicability and current research gaps.

Main Discussion Points: The review synthesizes evidence across several biomarker domains, including genetic mutations (e.g., SCN2A, KCNQ2), circulating microRNAs, neuroinflammatory markers, and proteomic/metabolomic indicators. It also discusses the emerging role of biosensor technology in real-time monitoring and diagnostics. Critical analysis reveals limitations such as small sample sizes, lack of longitudinal data, methodological inconsistencies, and limited generalizability. The need for standardized protocols and multicenter validation is emphasized to improve reliability and clinical translation.

Conclusion: Molecular and genetic biomarkers hold significant potential to transform epilepsy care through earlier diagnosis and more precise treatment planning. However, current evidence is preliminary, and substantial research is needed to validate these tools for routine clinical use. Future studies should adopt standardized, large-scale, and multi-modal designs to fully harness the diagnostic power of biomarkers in epilepsy.