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.

中文翻译：

---

癫痫管理中的精准医学；GET 应用（基因、癫痫、治疗）

目标 

目的是开发一个应用程序 (app) 原型，该应用程序可以识别已发现基因的重要性，以便在癫痫患者的治疗计划（精准医学）中进一步考虑。

方法 

从成立到 2022 年 4 月 1 日，MEDLINE 系统地搜索了相关出版物。实施了以下搜索策略（标题/摘要）：“癫痫”AND“精准”AND“医学”。提取了以下数据：基因、与这些基因相关的表型以及推荐的治疗方法。搜索了另外两个数据库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。此外，还检索了所识别基因的原始文章。选择具有特定治疗策略（即，要选择或要避免的任何特定药物以及任何其他特定疗法[例如，饮食、补充剂等]）的基因。

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相关，并已针对这些基因提出了具体的治疗策略。

结论 

相应地开发了一个基于网络的应用程序（搜索引擎），可以在http://get.yektaparnian.ir/、 GET （基因、癫痫、治疗）免费获得。当患者来到诊所进行基因诊断并鉴定出特定基因时，医生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。这项工作将受益于该领域专家的投入，并且网站应该开发得更加全面。