The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis
Ke, Q.; Xu, Q.-g.; Huang, D.-h.; Yuan, H.-j.; Zhao, Y.-l.; Wu, W.-p.
Zhonghua Yi Xue Za Zhi 86(11): 724-727
2006
ISSN/ISBN: 0376-2491 PMID: 16681942 Document Number: 604361
Mutation screening was performed on two Chinese families with HOKPP to locat the corresponding mutations and to specify the clinical features associated with the mutation. Target-exon PCR and direct sequencing were used to screen mutation in the CACNA1S and SCN4A gene of all numbers of the two families. The clinical features of patients were summary. A heterozygous point mutation 2015G-->A causing R672H in the SCN4A was found in five patients and five normal relatives of the two families. Features of R672H mutation are incomplete penetrance, especially non-penetrance of phenotype in women and potassium is effective, but acetazolamide is not. The SCN4A R672H mutation exists in the Chinese family with HOKPP.