Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022

Abstract

Background: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiology and molecular mechanisms of childhood epilepsy, which has increased our understanding of childhood epilepsy. Methods: We searched the core collection of Web of Science for relevant papers on genetic research on childhood epilepsy published since 2010 on November 30, 2022. In this study, original articles and reviews in English were included. Using CiteSpace and VOSviewer online tools, we conducted a bibliometric analysis of the countries, institutions, journals, co-cited journals, co-cited references, keywords, and research hotspots. Results: We evaluated 2500 literatures on epilepsy genomics in children. Among them, 96 countries published relevant articles, with the United States ranking the most. A total of 389 institutions have contributed relevant publications, and the University of Melbourne has published the most papers. Epilepsy journals were the most commonly cited. The references of papers were clustered into 9 categories: gene testing, epileptic encephalopathy, Dravet syndrome, focal cortical dysplasia, Rolandic epilepsy, copy number variation, ketogenic diet, monogenic epilepsy, and ptt2 mutation. Burst keywords represent the frontier of research, including developmental and epileptic encephalopathy (2021–2022), neurodevelopmental disorders (2020–2022), gene testing (2020–2022), and whole-exome sequencing (2019–2022). Conclusion: This study conducted a systematic and objective bibliometric analysis of the literature on epilepsy gene research in children. More importantly, it revealed the hot spot, frontier, and future developmental trends in the field. It will help pediatricians and geneticists further understand the dynamic evolution of genetic research on pediatric epilepsy.