ORIGINAL RESEARCH article
Front. Neurosci.
Sec. Neurodevelopment
Volume 19 - 2025 | doi: 10.3389/fnins.2025.1582255
This article is part of the Research TopicAdvancing Neurodevelopmental Disorder Models with Human iPSC and Multi-Omics IntegrationView all 5 articles
Development of Patient-Specific iPSC-Based Epilepsy Models and Identification of Differentially Expressed Genes for Disease Mechanisms
Provisionally accepted
Jianfeng Wu1,2Siqi Huang1,2Lihao Chen1,2Yinghong Yang1,2Shunhan Zhang1,2Jiajia Xian3Xiaoyan Ma3Furong Ma4
Li Shaoying3Yi Yang1,2
Yingjun Xie1,2*
Sun Xiaofagn1,2*- 1Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150,, Guangdong, China
- 2Guangzhou Medical University, Guangzhou, China
- 3Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory of Maternal-Fetal Medicine;, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Department of Obstetrics and Gynecology, Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong Province, China
- 43. Department of Clinical Laboratory Medicine, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Guangdong Center for Provincial Clinical Research Obstetrics and Gynecology,, Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150,, Guangdong, China
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Epilepsy, a complex neurodegenerative disorder characterized by recurrent seizures, poses significant challenges for clinical management and therapeutic development, and induced pluripotent stem cells (iPSCs) derived from patient-specific somatic cells represent a novel approach to model human diseases in vitro. In this study, we established patient-derived induced pluripotent stem cell (iPSC) lines from individuals with epilepsy carrying a novel mutation in the CLCNKB gene and characterized their transcriptomic profiles using RNA sequencing (RNA-seq). Through differential gene expression analysis, we identified sets of genes with expression upregulated or downregulated in iPSCs compared with control cells, suggesting their potential involvement in epilepsy pathophysiology. These genes were further validated through studies in the literature, which demonstrated their relevance to epilepsy-related phenotypes. The establishment of these patient-specific iPSC lines provides a valuable resource for understanding the molecular mechanisms underlying epilepsy and offers a novel platform for drug discovery and personalized medicine. This study highlights the utility of iPSCs in epilepsy research and paves the way for the development of novel diagnostic and therapeutic strategies for this challenging disorder.
Keywords: Epilepsy, induced pluripotent stem cells (iPSCs), RNA sequencing, disease modelling, personalized medicine, gene expression analysis
Received: 24 Feb 2025; Accepted: 23 May 2025.
Copyright: © 2025 Wu, Huang, Chen, Yang, Zhang, Xian, Ma, Ma, Shaoying, Yang, Xie and Xiaofagn. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yingjun Xie, Guangzhou Medical University, Guangzhou, China
Sun Xiaofagn, Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150,, Guangdong, China
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