Bridging Genomics and Precision Medicine in Pediatric Epilepsy: A Promising Approach to Classification and Management Challenges

Timely seizure control and preservation of neurodevelopment are particularly critical in infants and children. High-throughput technologies, such as exome sequencing (ES), have transformed the management of genetically determined epilepsy requiring rapid intervention. These technologies enable personalized medicine to improve outcomes by avoiding trial-and-error therapies, facilitating targeted interventions, and often reducing the need for invasive procedures. In parallel classifying diseases into specific groups not only guides clinical decision-making but also addresses parents' need for a clear and definitive label for their child's condition, helping them understand and manage the disorder. Despite these advances, disease naming and classification remain complex, particularly when establishing a straightforward diagnostic and management plan. This complexity arises from the sophisticated nature of genes, as both protein structural features and the extent of protein-protein interactions determine involvement in multiple biological pathways, resulting in heterogeneous clinical phenotypes. Consequently, classifying related disorders strictly into a single category—such as neurometabolic diseases, channelopathies, or ciliopathies is challenging, as a single gene-associated disorder may present features spanning multiple categories simultaneously. Therefore, careful attention to exome sequencing (ES) findings, guided by the molecular potential of each gene, assists clinical management. This includes consideration of even minor patient complaints, as well as proactive, periodic evaluations based on the gene's functional profile-such as preventive cardiac assessments and non-routine, minimally invasive biochemical tests-before the onset of clinical symptoms. Integrating molecular and clinical genetic diagnostics with individualized medical care facilitates more effective management, enhances overall patient outcomes, and supports a continuous and valuable collaboration between the genetics team and clinicians.

کلیدواژه ها:

Epilepsy ، Exome sequencing ، Personalized medicine ، Precision medicine