Rationale: The current endeavor aimed to develop an application (a search engine) that identifies the significance of the discovered genes (associated with epilepsy) for further consideration in the treatment plan of patients with epilepsy. The goal is to rapidly identify the genes that are considered important in the precision medicine of epilepsy.
Methods: MEDLINE was systematically searched for related published manuscripts from the inception to February 23, 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 (i.e., any specific drug to be selected or to be avoided and also any other specific therapies [e.g., diets, supplements, etc.]) were selected. Genes that are considered in the precision medicine of epilepsy were included.
Results: A database of 88 genes, which are associated with various epilepsy syndromes and for which specific treatment strategies have been suggested, was developed. A web-based application (a search engine) was developed accordingly that is freely available at http://get.yektaparnian.ir/.
Conclusions: Based on the available data, a web-based application was developed as a simple search engine “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.
Funding: Shiraz University of Medical Sciences