This Background—Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures. Genetic factors are increasingly recognized as major contributors to epilepsy, although their contribution is not uniform across the epilepsies: a molecular diagnosis can be identified in a substantial proportion of the monogenic developmental and epileptic encephalopathies (DEEs) and other early-onset syndromic epilepsies, whereas common, generalized, and structurally or acquired epilepsies are more often polygenic or non-genetic in origin. Early and accurate diagnostic genetic testing in patients who present with seizures remains a critical challenge, particularly in cases with complex etiologies. Method—This review examined the literature on diagnostic genetic scanning in patients with a clinical diagnosis of epilepsy, searching PubMed/MEDLINE, Embase, Scopus, Web of Science, and Cochrane Library for articles published between January 2000 and October 2024 (final search conducted 9 March 2025; see Materials and Methods for complete search strings). Selected studies focused on the application of genetic techniques (single-gene testing, gene panels, WES, WGS) for diagnosis, prognosis, and treatment of epilepsy in symptomatic patients. Data extraction and synthesis were performed to identify key findings and challenges. Findings—Genetic testing significantly enhances diagnostic accuracy, particularly in early-onset epilepsies and specific syndromes. Numerous genes associated with epilepsy have been identified, affecting ion channel function, synaptic transmission, brain development, and cell adhesion. Genotype-phenotype correlations are emerging, informing treatment decisions and providing prognostic insights. However, cost, variant interpretation, and ethical considerations pose challenges to widespread implementation. Conclusions—Genetic scanning holds substantial potential for improving diagnostic accuracy and personalized management of epilepsy in patients who already present with seizures. Addressing existing challenges through expanded gene discovery, development of targeted therapies, improved variant interpretation, and robust ethical guidelines is crucial for realizing its full clinical utility.
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