Background

Epilepsies with encephalopathy are important to promptly and thoroughly evaluate because of their associated refractory nature and potential for neurologic regression.

Methods

The results of epilepsy gene panel testing were obtained for 109 pediatric patients at Nemours Children’s Center in Jacksonville, Florida, from 04/2019 to 02/2021. Results were obtained from Invitae TM via the offered epilepsy gene panel test and Behind the Seizure program. The EEGs for each patient were independently analyzed and categorized based on the presence or absence of features consistent with an epileptogenic encephalopathy.

Results

EEG characterization and identification of patients with epileptogenic encephalopathy in our study was helpful in identifying patients, with an 80% yield on epilepsy gene panel testing.

Conclusions

EEG characterization can be incorporated into the evaluation of patients with epilepsy in order to optimize the selection of patients who are likely to benefit from an epilepsy gene panel test.

中文翻译：

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脑电图发现提高了儿童癫痫基因组检测的产量

背景

伴有脑病的癫痫对于及时和彻底的评估很重要，因为它们具有相关的难治性和神经退化的可能性。

方法

从 04/2019 到 02/2021，在佛罗里达州杰克逊维尔的 Nemours 儿童中心获得了 109 名儿科患者的癫痫基因组检测结果。结果是通过提供的癫痫基因组测试和 Behind the Seizure 程序从 Invitae TM 获得的。根据是否存在与致痫性脑病一致的特征，对每位患者的脑电图进行独立分析和分类。

结果

在我们的研究中，脑电图特征和癫痫源性脑病患者的鉴定有助于鉴定患者，癫痫基因组检测的收益率为 80%。

结论

脑电图特征可以纳入癫痫患者的评估，以优化可能受益于癫痫基因组测试的患者的选择。