Abstract
AIMS: Evidence suggests a bidirectional relationship between epilepsy and Type 1 diabetes mellitus (T1DM), but the underlying mechanisms and overall research landscape remain incompletely understood. This study is aimed at delineating research trends and sharing pathogenic pathways between epilepsy and T1DM through a comprehensive bibliometric analysis and genetic investigation. METHODS: We performed a systematic search of the Web of Science Core Collection database (from 1983 to 2024) to identify relevant publications on epilepsy and T1DM. Bibliometric tools (Bibliometrix and CiteSpace) were employed to analyze publication trends, major contributors, and research hotspots. Shared genes were identified via disease-gene association databases (GeneCards and OMIM), and differentially expressed genes (DEGs) were analyzed using GEO2R on GEO datasets. RESULTS: A total of 217 publications were included. Publication output demonstrated exponential growth over the study period (R (2) = 0.6999). The United States, the United Kingdom, and China were the leading contributing countries, exhibiting varying collaboration patterns. Analysis of keywords and co-citations highlighted the central role of autoimmunity, particularly glutamic acid decarboxylase (GAD) antibodies, in linking the two diseases. Keyword and thematic analyses revealed that recent trends indicate growing attention to clinical management, particularly of severe hypoglycemia. Genetic analysis identified 44 overlapping genes between epilepsy and T1DM, which were significantly enriched for autoimmune-associated terms (p < 0.001). Notably, the translocator protein (TSPO) was the only DEG in both conditions, with upregulation observed in T1DM (log2FC = 0.504, p = 0.0319) and epilepsy (log2FC = 0.562, p < 0.001). CONCLUSIONS: This study maps the evolving research landscape of epilepsy and T1DM, confirming autoimmunity as a key link. The identification of TSPO as a shared, upregulated gene provides novel molecular evidence for the connection between the two diseases and suggests TSPO as a potential target for future research and therapeutic strategies.