Rationale:
This study aims to take advantage of Genes4Epilepsy (an epilepsy gene resource) as a reliable source to develop an advanced version of GET application (GET prime).
Methods:
We downloaded the list of all 954 epilepsy-related genes that are included in Genes4Epilepsy. MEDLINE was searched for the related publications for each gene from inception until April 1, 2023. These key words were used: “epilepsy” AND “gene name” and also “seizure” AND “gene name." Human studies, reviews, guidelines, and any other publications with information on the specific treatments related to any given specific gene in humans were included. Animal studies and any other non-human study (e.g., in vitro studies) were excluded. Genes with specific treatment strategies were included in the database.
Results:
We conducted 954 systematic searches (all genes in the Genes4Epilepsy database). For 137 genes out of 954 ones, there were human studies (e.g., trials, retrospective studies, case series, case reports) or other publications (e.g., reviews, guidelines, commentaries, etc.) suggesting specific therapies in humans. A database of these 137 genes that are associated with various syndromes and for which specific treatment strategies exist was developed. A database of all the publications on all 137 genes (N = 8139 publications) was also developed. A web-based application (a search engine) was developed based on the above-mentioned database (GET prime). This is freely available at http://getprime-sums.com. This application is designed in a way to enable the treating physician to identify the specific therapies for a specific epilepsy-related gene.
Conclusions:
Based on Genes4Epilepsy and the available publications, a web-based application was developed as a simple search engine “GET (Gene, Epilepsy, Treatment) prime." This is an application to facilitate the decision-making process for the treating physician.
Funding:
Shiraz University of Medical Sciences, Shiraz, Iran