The Practical Aspects of Epilepsy Gene Panel Testing

During the last decade, advances in genetic technology have led to an explosion of identification of genes associated with epilepsy. A genetic diagnosis for an individual with epilepsy can clarify the diagnosis and can predict the prognosis, treatment options, and the need to screen for additional clinical features. Next-generation sequencing technology has enabled the simultaneous sequencing of a large number of DNA segments. Using this technology, a group of genes is organized into a panel and analyzed, which is referred to as gene panel testing. Epilepsy gene panel testing has proven to be valuable in clinical practice due to its efficiency and cost-effectiveness. The diagnostic power might be enhanced when a gene panel test is applied in carefully selected epilepsy patients. Patients with early-onset epilepsy, epileptic encephalopathies, or epilepsy refractory to medical treatment without known etiologies are candidates for epilepsy gene panel testing. Although the accurate interpretation of genetic testing results is important, it remains challenging. Comprehensive counseling and interpretation of results by a qualified individual with relevant expertise are necessary for the successful integration of this method into clinical practice.