Ion Channel Genes and Epilepsy：Functional Alteration,Pathogenic Potential,and Mechanism of Epilepsy

• Published in: Neuroscience bulletin Vol. 33; no. 4; pp. 455 - 477
• Main Authors: Wei, Feng, Yan, Li-Min, Su, Tao, He, Na, Lin, Zhi-Jian, Wang, Jie, Shi, Yi-Wu, Yi, Yong-Hong, Liao, Wei-Ping
• Format: Journal Article
• Language: English
• Published: Singapore Springer Singapore 01.08.2017; Springer
• Subjects: Anatomy; Anesthesiology; Animals; Biomedical and Life Sciences; Biomedicine; Epilepsy; Epilepsy - genetics; Epilepsy - pathology; Epilepsy - physiopathology; Genetic aspects; Genetic Predisposition to Disease - genetics; Human Physiology; Humans; Ion Channels - genetics; Mediation; Mutation - genetics; NAV1.1 Voltage-Gated Sodium Channel - genetics; Neurology; Neurosciences; Pain Medicine; Review; 基因型; 机制; 电位; 癫痫; 神经系统; 离子通道; 致病性; 表型相关; Epilepsy gene; Genetics; Gene function; Pathogenic mechanism; Epilepsy; Ion channel gene
• ISSN: 1673-7067; 1995-8218; 1995-8218
• DOI: 10.1007/s12264-017-0134-1

Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy. Forty-one epilepsyassociated ion channel genes and their mutations are systematically reviewed. In this paper, we analyzed the genotypes, functional alterations（funotypes）, and phenotypes of these mutations. Eleven genes featured loss-offunction mutations and six had gain-of-function mutations.Nine genes displayed diversified funotypes, among which a distinct funotype-phenotype correlation was found in SCN1A. These data suggest that the funotype is an essential consideration in evaluating the pathogenicity of mutations and a distinct funotype or funotype-phenotype correlation helps to define the pathogenic potential of a gene.