[The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis].
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
The SCN4A R672H mutation exists in the Chinese family with HOKPP.
Ke
Qing
Q
Department of Neurology, General Hospital of PLA, Beijing 100853, China.
Xu
Quan-gang
QG
Huang
De-hui
DH
Yuan
Hui-jun
HJ
Zhao
Ya-li
YL
Wu
Wei-ping
WP