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Article

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

Neuroscience bulletin - 1 Aug 2017

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 28488083
DOI: 10.1007/s12264-017-0134-1
PMCID: PMC5567559

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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