Ontology highlight
ABSTRACT:
SUBMITTER: Liu XL
PROVIDER: S-EPMC4594454 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Liu Xiao-li XL Huang Xiao-jun XJ Luan Xing-hua XH Zhou Hai-yan HY Wang Tian T Wang Jing-yi JY Chen Sheng-di SD Tang Hui-dong HD Cao Li L
Channels (Austin, Tex.) 20150101 2
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, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified ...[more]