Genetic biomarker screening for drug-resistant epilepsy in low- and middle-income countries (LMICs).

IF 2.5 4区 医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Dina Kalinina, Alimzhan Muxunov, Zhassulan Utebekov, Gaziz Kyrgyzbay, Darkhan Kimadiev, Guldana Zhumabaeva, Joseph Almazan, Antonio Sarria-Santamera
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Abstract

Drug-resistant epilepsy (DRE) presents a major clinical and economic challenge, particularly in lowand middle-income countries (LMICs), where healthcare resources are limited and treatment gaps remain significant. Although epilepsy surgery remains the most effective intervention for eligible DRE patients, outcomes are variable, with success rates ranging from 30% to 70%. Emerging evidence suggests that genetic biomarkers can inform patient selection, predict surgical outcomes, and guide treatment planning. This review explores the potential of integrating genetic testing into presurgical evaluation protocols in LMICs. It examines the role of specific gene mutations in pharmacoresistance, seizure localization, and structural brain abnormalities, with a focus on improving surgical success rates and reducing unnecessary interventions. Incorporating genetic stratification into clinical decision-making could enhance cost-effectiveness, minimize the burden on healthcare systems, and support the development of personalized treatment pathways. Advancing genetic research and building capacity in precision neurology are essential steps toward improving DRE management in resource-constrained settings.

低收入和中等收入国家耐药癫痫的遗传生物标志物筛查。
耐药癫痫(DRE)是一项重大的临床和经济挑战,特别是在卫生保健资源有限且治疗差距仍然很大的中低收入国家。虽然癫痫手术仍然是符合条件的DRE患者最有效的干预措施,但结果是可变的,成功率从30%到70%不等。新出现的证据表明,遗传生物标志物可以为患者选择、预测手术结果和指导治疗计划提供信息。这篇综述探讨了将基因检测纳入低收入国家手术前评估方案的潜力。它研究了特定基因突变在耐药、癫痫定位和脑结构异常中的作用,重点是提高手术成功率和减少不必要的干预。将遗传分层纳入临床决策可以提高成本效益,最大限度地减少医疗保健系统的负担,并支持个性化治疗途径的发展。推进基因研究和精准神经学能力建设是在资源受限环境下改善DRE管理的重要步骤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Advances in Clinical and Experimental Medicine
Advances in Clinical and Experimental Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.70
自引率
4.80%
发文量
153
审稿时长
6-12 weeks
期刊介绍: Advances in Clinical and Experimental Medicine has been published by the Wroclaw Medical University since 1992. Establishing the medical journal was the idea of Prof. Bogumił Halawa, Chair of the Department of Cardiology, and was fully supported by the Rector of Wroclaw Medical University, Prof. Zbigniew Knapik. Prof. Halawa was also the first editor-in-chief, between 1992-1997. The journal, then entitled "Postępy Medycyny Klinicznej i Doświadczalnej", appeared quarterly. Prof. Leszek Paradowski was editor-in-chief from 1997-1999. In 1998 he initiated alterations in the profile and cover design of the journal which were accepted by the Editorial Board. The title was changed to Advances in Clinical and Experimental Medicine. Articles in English were welcomed. A number of outstanding representatives of medical science from Poland and abroad were invited to participate in the newly established International Editorial Staff. Prof. Antonina Harłozińska-Szmyrka was editor-in-chief in years 2000-2005, in years 2006-2007 once again prof. Leszek Paradowski and prof. Maria Podolak-Dawidziak was editor-in-chief in years 2008-2016. Since 2017 the editor-in chief is prof. Maciej Bagłaj. Since July 2005, original papers have been published only in English. Case reports are no longer accepted. The manuscripts are reviewed by two independent reviewers and a statistical reviewer, and English texts are proofread by a native speaker. The journal has been indexed in several databases: Scopus, Ulrich’sTM International Periodicals Directory, Index Copernicus and since 2007 in Thomson Reuters databases: Science Citation Index Expanded i Journal Citation Reports/Science Edition. In 2010 the journal obtained Impact Factor which is now 1.179 pts. Articles published in the journal are worth 15 points among Polish journals according to the Polish Committee for Scientific Research and 169.43 points according to the Index Copernicus. Since November 7, 2012, Advances in Clinical and Experimental Medicine has been indexed and included in National Library of Medicine’s MEDLINE database. English abstracts printed in the journal are included and searchable using PubMed http://www.ncbi.nlm.nih.gov/pubmed.
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