Genetic testing in childhood epilepsy: what tests to send, whom to test, and why to test?

Abstract

The role of genetics in childhood epilepsy has significantly expanded with the advancements in next-generation sequencing technologies. Genetic testing now plays a crucial role in diagnosis, prognosis, and precision therapeutics, particularly in developmental and epileptic encephalopathies and drug-resistant epilepsies. However, implementation remains uneven, leaving clinicians with frequent questions: Which test should I choose? When is testing justified? And why does it matter just beyond a molecular label? This review aims to synthesize current evidence on the utility of genetic testing in epilepsy, comparing available modalities, identifying the clinical scenarios where testing has the most impact, and outlining the therapeutic implications.