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

• Published in: Journal of human genetics Vol. 69; no. 9; pp. 441 - 453
• Main Authors: Dong, Rui, Jin, Ruifeng, Zhang, Hongwei, Zhang, Haiyan, Xue, Min, Li, Yue, Zhang, Kaihui, Lv, Yuqiang, Li, Xiaoying, Liu, Yi, Gai, Zhongtao
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.09.2024
• Subjects: Adolescent; Adult; Asian People - genetics; Channel gating; Child; Child, Preschool; China - epidemiology; Convulsions & seizures; East Asian People; Epilepsies, Myoclonic - epidemiology; Epilepsies, Myoclonic - genetics; Epilepsy; Epilepsy - epidemiology; Epilepsy - genetics; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic screening; Genotype; Genotypes; High-Throughput Nucleotide Sequencing; Humans; Infant; Intellectual disabilities; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel - genetics; NAV1.2 Voltage-Gated Sodium Channel - genetics; Neurodevelopmental disorders; Next-generation sequencing; Phenotype; Phenotypes; Phenotypic variations; Retrospective Studies; Seizures; Seizures, Febrile - epidemiology; Seizures, Febrile - genetics; Sodium channels (voltage-gated); Statistical analysis; Voltage-Gated Sodium Channels - genetics; Young Adult; China

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...