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

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: AWeb-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.

Automated summary

The aim of this study was to develop a prototype app that identifies the significance of discovered genes for further consideration in the treatment plan of patients with epilepsy. A database of 93 genes associated with epilepsy syndromes and specific treatment strategies was developed. A web-based app (GET) was created to provide physicians with information on whether specific treatment is needed for genetic epilepsy.