Susceptibility genes for familial clustered epilepsy were explored based on exon sequencing_Journal of Epilepsy

Authors：

GU Ziyi ¹ , WANG Ruoxiao ¹ , ZHAO Yangfan ¹ ,  GAO Min ²

1. Shandong First Medical University, Taian 271000, China;
2. Department of Neurology, the Second Affiliated Hospital, Shandong First Medical University, Taian 271000, China;

Corresponding?author：

GAO Min, Email: 1216086916@qq.com

Keywords：

Epilepsy; Familial aggregation; Exon sequencing; Gene mutation; Bioinformatics analysis

DOI：

10.7507/2096-0247.202510005

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Objective Exon sequencing and bioinformatics techniques were used to explore the pathogenesis of familial cluster epilepsy at the gene level and search for possible susceptibility genes of familial cluster epilepsy. Methods We selected 20 patients diagnosed with familial cluster epilepsy from the Second Affiliated Hospital of Shandong First Medical University as the research objects, and extracted all potential single nucleotide polymorphism sites and nucleotide insertion or deletion variation in the whole genome, to evaluate the pathogenicity of the mutation site and perform gene ontology pathway analysis of candidate genes. Results The sequencing data of 20 DNA samples were qualified. 28 candidate genes were selected by whole-exon sequencing combined with bioinformatics analysis. Gene ontology of epilepsy risk genes mainly acts on neuroactive ligand-receptor interactions, cholinergic synapses and ion channels. Conclusion A total of 10 genes, TSC 2, NRXN 1, POLG, POLG 2, WDR 45, TBC1D24, CHRNA2,K ANSL1, DEPDC5, and CACNA1A, may be susceptibility genes for familial cluster epilepsy. Candidate genes for familial cluster epilepsy may be involved in biological pathways such as neuroactive ligand-receptor interactions, cholinergic synapses and ion channels.

Citation： GU Ziyi, WANG Ruoxiao, ZHAO Yangfan, GAO Min. Susceptibility genes for familial clustered epilepsy were explored based on exon sequencing. Journal of Epilepsy, 2026, 12(1): 28-36. doi: 10.7507/2096-0247.202510005 Copy

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7.	Tian F , Cao B , Xu H, et al. Epilepsy phenotype and response to KCNQ openers in mice harboring the Kcnq2 R207W voltage-sensor mutation. Neurobiol Dis, 2022, 174: 105860.
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7. Tian F , Cao B , Xu H, et al. Epilepsy phenotype and response to KCNQ openers in mice harboring the Kcnq2 R207W voltage-sensor mutation. Neurobiol Dis, 2022, 174: 105860.
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Journal of Epilepsy

Susceptibility genes for familial clustered epilepsy were explored based on exon sequencing

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