Article
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
Channels (Austin, Tex.) - 1 Jan 2015
Liu Xiao-li, Huang Xiao-jun, Luan Xing-hua, Zhou Hai-yan, Wang Tian, Wang Jing-yi, Chen Sheng-di, Tang Hui-dong, Cao Li
Abstract excerpt
SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. In this study, one sporadic individual of periodic paralysis, one paramyotonia family and 200 normal healthy controls are enrolled. Genomic DNA was extracted from peripheral blood leukocytes, followed by polymerase chain reaction and DNA sequencing of candidate genes, including SCN4A and CACNA1S. As a result,...
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