Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population - Dong, Rui; Jin, Ruifeng; Zhang, Hongwei; Zhang, Haiyan; Xue, Min; Li, Yue; Zhang, Kaihui; Lv, Yuqiang; Li, Xiaoying; Liu, Yi; Gai, Zhongtao (Journal of human genetics, 2024)
Keywords: 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