[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].
OBJECTIVE
Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.


METHODS
The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.


RESULTS
Two patients of the family showed the typical features of HOKPP: the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family.


CONCLUSIONS
The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.
Ke
Qing
Q
Department of Neurology, General Hospital of PLA, Beijing, 100853 PR China. keqing2003@163.com
Wu
Wei-ping
WP
Guo
Xiu-hai
XH
Xu
Quan-gang
QG
Huang
De-hui
DH
Mao
Yan-ling
YL
Huo
Chun-nuan
CN
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D002681:China; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type