Precision Medicine in Epilepsy Management; GET Application (Gene, Epilepsy, Treatment).

IF 0.8 4区医学 Q4 CLINICAL NEUROLOGY

Clinical Neuropharmacology Pub Date : 2023-05-01 DOI:10.1097/WNF.0000000000000549

Ali A Asadi-Pooya

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引用次数: 1

Abstract

Objectives: The aim was to develop a prototype of an application (app) that identifies the significance of discovered genes for further consideration in the treatment plan of patients with epilepsy (precision medicine).

Methods: MEDLINE was systematically searched for related publications from inception to April 1, 2022. The following search strategy was implemented (title/abstract): "epilepsy" AND "precision" AND "medicine." The following data were extracted: genes, phenotypes associated with those genes, and the recommended treatments. Two other databases were searched to cross-check the retrieved data and add to the data: https://www.genecards.org and https://medlineplus.gov/genetics . Also, the original articles of the identified genes were retrieved. Genes with specific treatment strategies (ie, any specific drug to be selected or to be avoided and also any other specific therapies [eg, diets, supplements, etc]) were selected.

Results: A database of 93 genes, which are associated with various epilepsy syndromes and for which specific treatment strategies have been suggested, was developed.

Conclusions: A Web-based app (a search engine) was developed accordingly that is freely available at http://get.yektaparnian.ir/ , GET (Gene, Epilepsy, Treatment). When a patient comes to the clinic with a genetic diagnosis and a specific gene is identified, the physician enters the gene name into the search box, and the app shows whether this genetic epilepsy needs a specific treatment. This endeavor would benefit from input by experts in the field, and the Web site should be developed more comprehensively.

查看原文本刊更多论文

精准医学在癫痫治疗中的应用GET应用(基因，癫痫，治疗)。

目的:目的是开发一个应用程序(app)的原型，识别发现的基因的意义，以进一步考虑癫痫患者的治疗计划(精准医学)。方法:系统检索MEDLINE自创刊至2022年4月1日的相关文献。执行以下搜索策略(标题/摘要):“epilepsy”AND“precision”AND“medicine”。提取以下数据:基因，与这些基因相关的表型，以及推荐的治疗方法。另外两个数据库被搜索以交叉检查检索到的数据并添加到数据中:https://www.genecards.org和https://medlineplus.gov/genetics。同时，检索鉴定基因的原始文章。选择具有特定治疗策略的基因(即选择或避免任何特定药物以及任何其他特定疗法[例如，饮食，补充剂等])。结果:开发了一个包含93个基因的数据库，这些基因与各种癫痫综合征有关，并建议了特定的治疗策略。结论:开发了基于web的应用程序(搜索引擎)，可在http://get.yektaparnian.ir/， GET (Gene, Epilepsy, Treatment)免费获得。当患者带着基因诊断来到诊所，并识别出特定基因时，医生会在搜索框中输入基因名称，应用程序会显示这种遗传性癫痫是否需要特定治疗。这一努力将受益于该领域专家的投入，并且应该更全面地开发网站。

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

Clinical Neuropharmacology 医学-临床神经学

CiteScore

1.20

自引率

10.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Neuropharmacology is a peer-reviewed journal devoted to the pharmacology of the nervous system in its broadest sense. Coverage ranges from such basic aspects as mechanisms of action, structure-activity relationships, and drug metabolism and pharmacokinetics, to practical clinical problems such as drug interactions, drug toxicity, and therapy for specific syndromes and symptoms. The journal publishes original articles and brief reports, invited and submitted reviews, and letters to the editor. A regular feature is the Patient Management Series: in-depth case presentations with clinical questions and answers.