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Review
. 2017 Aug;33(4):455-477.
doi: 10.1007/s12264-017-0134-1. Epub 2017 May 9.

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

Feng Wei  1   2 , Li-Min Yan  1 , Tao Su  1 , Na He  1 , Zhi-Jian Lin  1 , Jie Wang  1 , Yi-Wu Shi  1 , Yong-Hong Yi  1 , Wei-Ping Liao  3
Affiliations
Review

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

Feng Wei et al. Neurosci Bull. 2017 Aug.

Abstract

Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy. Forty-one epilepsy-associated 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-of-function 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.

Keywords: Epilepsy; Epilepsy gene; Gene function; Genetics; Ion channel gene; Pathogenic mechanism.

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