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Article

Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.

Journal of human genetics - 1 Sept 2024

Dong Rui, Jin Ruifeng, Zhang Hongwei, Zhang Haiyan, Xue Min, Li Yue, Zhang Kaihui, Lv Yuqiang, Li Xiaoying, Liu Yi, Gai Zhongtao

Abstract excerpt

Variants in voltage-gated sodium channel (VGSC) genes are implicated in seizures, epilepsy, and neurodevelopmental disorders, constituting a significant aspect of hereditary epilepsy in the Chinese population. Through retrospective analysis utilizing next-generation sequencing (NGS), we examined the genotypes and phenotypes of VGSC-related epilepsy cases from a cohort of 691 epilepsy subjects. Our findings...

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PMID: 38880818
DOI: 10.1038/s10038-024-01257-2

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