基因检测在不明原因癫痫成年患者中的作用。

IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Epileptic Disorders Pub Date : 2024-09-16 DOI:10.1002/epd2.20286
Chi-Ting Chung, Ni-Chung Lee, I-Ting Lin, Pin-Yu Chen, Tun Jao
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引用次数: 0

摘要

目的:病因不明的癫痫患者,尤其是成人癫痫患者的遗传原因常常被忽视。我们旨在评估遗传性癫痫的临床特征和基因检测的效用:我们回顾性地筛查了 2022 年 4 月至 2023 年 5 月在一家癫痫诊所就诊的连续非亲属成人癫痫患者。病因不明或脑部有特殊病变的患者被归类为不明原因癫痫。在这些患者中,有年轻发作或家族发作史的患者被推荐并最终接受了使用面板下一代测序(NGS)或全外显子组测序(WES)进行的基因检测。通过基因型与表型的相关性确定明确或可能的基因诊断。我们比较了遗传性癫痫与其他病因之间的人口统计学特征:在 374 名成年癫痫患者中,有 258 人被归类为原因不明的癫痫,129 人因幼年发作或家族史阳性而被怀疑患有遗传性癫痫,33 人接受了基因检测;13 人携带被归类为致病性的变异,6 人获得明确的基因诊断,基因诊断率为 18%。在没有明确遗传诊断的 27 名患者中,有 7 人的病因是非遗传结构性的。有遗传病因的患者表现出更多的多系统受累,尤其是多种结构异常和早期儿童发作,但与年轻发作或阳性家族史并无直接关联。面板 NGS 和 WES 的诊断率相当:在原因不明的成年癫痫患者中,遗传性癫痫与多系统受累和多种结构异常更相关,但与癫痫发作家族史或幼年发作无关。
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The role of genetic testing in adult patients with unexplained epilepsy.

Objective: Genetic causes are often overlooked in patients with epilepsy of unknown etiology, particularly in adults. We aimed to evaluate clinical features of genetic epilepsy and the utility of genetic testing.

Methods: We retrospectively screened consecutive unrelated adult epilepsy patients at an epilepsy clinic from April 2022 to May 2023. Patients with unknown etiology or special brain lesions were classified as unexplained epilepsy. In them, patients with young-onset seizures or family history of seizures who were recommended for and ultimately underwent genetic testing using either panel next-generation sequencing (NGS) or whole-exome sequencing (WES) were enrolled. A definite or probable genetic diagnosis was established through genotype-phenotype correlation. We compared the demographic characteristics between genetic epilepsy and other etiologies.

Results: Of the 374 adult epilepsy patients, 258 were classified as unexplained epilepsy, 129 were suspected of having genetic epilepsy due to young-onset seizures or a positive family history, 33 underwent genetic testing; 13 harbored variants classified as pathogenic, and 6 reached a definite genetic diagnosis, resulting in a yield of 18%. Among the 27 patients without a definite genetic diagnosis, 7 had a nongenetic structural etiology. Patients with genetic etiology exhibited greater multisystem involvement particularly multiple structural anomalies and early childhood-onset seizures, but wasn't directly correlated with young-onset seizures or a positive family history. The diagnostic yield was comparable between panel NGS and WES.

Significance: In adult patients with unexplained epilepsy, genetic epilepsy is more associated with multisystem involvement and multiple structural anomalies but not family history of seizures or young-onset seizures.

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来源期刊
Epileptic Disorders
Epileptic Disorders 医学-临床神经学
CiteScore
4.10
自引率
8.70%
发文量
138
审稿时长
6-12 weeks
期刊介绍: Epileptic Disorders is the leading forum where all experts and medical studentswho wish to improve their understanding of epilepsy and related disorders can share practical experiences surrounding diagnosis and care, natural history, and management of seizures. Epileptic Disorders is the official E-journal of the International League Against Epilepsy for educational communication. As the journal celebrates its 20th anniversary, it will now be available only as an online version. Its mission is to create educational links between epileptologists and other health professionals in clinical practice and scientists or physicians in research-based institutions. This change is accompanied by an increase in the number of issues per year, from 4 to 6, to ensure regular diffusion of recently published material (high quality Review and Seminar in Epileptology papers; Original Research articles or Case reports of educational value; MultiMedia Teaching Material), to serve the global medical community that cares for those affected by epilepsy.
期刊最新文献
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