Department of Pediatric Neurology, National Taiwan University Children's Hospital, Taipei, Taiwan; Department of Pediatrics, Taipei City Hospital Heping Fuyou Branch, Taipei, Taiwan.
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Epilepsy Behav. 2020 May;106:107003. doi: 10.1016/j.yebeh.2020.107003. Epub 2020 Mar 10.
About 10-30% of pediatric patients with epilepsy have drug-resistant epilepsy. Genetic panels may be useful in identifying etiology and guiding treatment in pediatric patients with drug-resistant epilepsy. In our tertiary center, we used two epilepsy panels, an initial 24-genes panel followed by a more comprehensive 122-genes panel to screen for genetic cause over recent 2 years. A total of 96 patients with drug-resistant epilepsy were evaluated using the 24-genes panel, which revealed 10 (10.4%) of the patients with pathogenic variants. Another 22 patients without causative genetic variants using first-gene panel were evaluated using the 122-genes panel. Out of the 22 patients, 4 had pathogenic variants, and 6 had variants of unknown significance. The total yield rate for the second panel was 18.2% (4/22). In conclusion, although whole exome sequencing has entered clinical practice, epilepsy gene panels may still play some roles because of lower cost and faster time, especially in those with fever-associated epilepsy.
约 10-30%的癫痫患儿为耐药性癫痫。基因谱分析可能有助于确定耐药性癫痫患儿的病因，并指导治疗。在我们的三级中心，最近 2 年来，我们使用了两种癫痫基因谱分析，首先是一个包含 24 个基因的初始基因谱分析，然后是一个更全面的包含 122 个基因的基因谱分析，以筛选遗传病因。共对 96 名耐药性癫痫患儿进行了 24 个基因谱分析，发现其中 10 名（10.4%）患儿存在致病性变异。对使用第一个基因谱未发现致病基因突变的 22 名患儿，使用 122 个基因谱分析，其中 4 名患儿存在致病性变异，6 名患儿存在意义不明的变异。第二个基因谱的总检出率为 18.2%（4/22）。总之，尽管外显子组测序已进入临床实践，但由于成本更低、时间更快，癫痫基因谱分析仍可能发挥一定作用，特别是在那些与发热相关的癫痫患儿中。
