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Article

Genetic Etiology of Epilepsy: A Retrospective Study From a Single-Center Cohort.

Clinical genetics - 1 Oct 2025

Li Yinchao, Xu Xiaowei, She Yingfang, Su Zhengwei, Liu Xianyue, Chen Ying, Ye Chenghui, Zhang Yuanchao, Yu Hang, Chen Chun, Chen Shuda, Zhou Liemin

Abstract excerpt

Next generation sequencing (NGS) technology has made significant progress in the genetic diagnosis and treatment of epilepsy. However, genetic studies on epilepsy with different etiologies remain relatively limited. In this study, whole-genome or whole-exome sequencing was performed on 158 unrelated patients with epilepsy of various etiologies, and the identified variants were analyzed for their association with...

Topics

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Child, Preschool
Epilepsy
Exome Sequencing
High-Throughput Nucleotide Sequencing
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Nerve Tissue Proteins

Source

Identifiers

PMID: 40296287
DOI: 10.1111/cge.14757

Genes

KMT2C
NAGLU
NOTCH3
PRKRA
PRRT2
SCN1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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