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

• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2017,（4）
• 页码范围: 455-477
• 页数: 23页
• 语种: 英文
• DOI: 10.1007/s12264-017-0134-1

摘要

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.