Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Semin Neurol. 2020 Dec;40(6):730-738. doi: 10.1055/s-0040-1719070. Epub 2020 Nov 11.
Because of next-generation sequencing and the discovery of many new causative genes, genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in epilepsy cause a variety of changes that can be broadly classified into syndromic disorders (i.e., chromosomal abnormalities), metabolic disorders, brain malformations, and abnormal cellular signaling. Here, we review the available genetic testing, reasons to pursue genetic testing, common genetic causes of epilepsy, the data behind what patients are found to have genetic epilepsies based on current testing, and discussing these results with patients. We propose an algorithm for testing patients with epilepsy to maximize yield and limit costs based on their phenotype (including electroencephalography and magnetic resonance imaging findings), age of seizure onset, and presence of other neurologic comorbidities. Being able to discern which type of genetic testing to order, using that information to give targeted and cost-effective patient care, and interpreting results accurately will be a crucial skill for the modern neurologist.
由于下一代测序技术的发展和许多新的致病基因的发现，癫痫患者的基因检测已经变得广泛应用。导致癫痫的病理性变异会引起各种变化，可以广义地分为综合征障碍（即染色体异常）、代谢障碍、脑畸形和异常细胞信号。在这里，我们回顾了现有的基因检测、进行基因检测的原因、癫痫常见的遗传原因、根据当前检测结果发现患者患有遗传性癫痫的相关数据，并与患者讨论这些结果。我们根据患者的表型（包括脑电图和磁共振成像结果）、癫痫发作的起始年龄和是否存在其他神经共病，提出了一种针对癫痫患者的检测算法，以最大限度地提高检测结果的阳性率并降低检测成本。能够辨别要进行哪种类型的基因检测，利用这些信息为患者提供有针对性且具有成本效益的治疗，并准确地解释结果，这将是现代神经科医生的一项关键技能。
