Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant analyses in an Irish cohort of 101 people with epilepsy and co-morbid intellectual disability to compare the diagnostic yield of genomic testing between adult and paediatric patients. Variant interpretation followed American College of Medical Genetics and Genomics (ACMG) guidelines. We demonstrate that WES, in combination with array-comparative genomic hybridisation, provides a diagnostic rate of 27% in unrelated adult epilepsy patients and 42% in unrelated paediatric patients. We observe a 2.7% rate of ACMG-defined incidental findings. Our findings indicate that WES has similar utility in both adult and paediatric cohorts and is appropriate for diagnostic testing in both epilepsy patient groups.

中文翻译：

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成人和儿童癫痫和共存智力障碍的基因组诊断比较。

新一代测序为改进癫痫诊断提供了重要机会。迄今为止，大多数诊断性基因检测是在儿科领域进行的，而这种检测在成人癫痫患者中的效用却鲜为人知。我们在 101 名患有癫痫和共病智力障碍的爱尔兰队列中进行了全外显子组测序 (WES) 和拷贝数变异分析，以比较成人和儿童患者之间基因组检测的诊断率。变异解释遵循美国医学遗传学和基因组学学院 (ACMG) 指南。我们证明 WES 与阵列比较基因组杂交相结合，在无关的成人癫痫患者中提供了 27% 的诊断率，在无关的儿科患者中提供了 42% 的诊断率。我们观察到 2。ACMG 定义的偶然发现率为 7%。我们的研究结果表明，WES 在成人和儿童队列中具有相似的效用，并且适用于两个癫痫患者组的诊断测试。