title: [R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].
abstract: 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.
authors.affiliation: Department of Neurology, General Hospital of PLA, Beijing, 100853 PR China. keqing2003@163.com
authors.forename: Qing
authors.initials: Q
authors.lastname: Ke
authors.forename: Wei-ping
authors.initials: WP
authors.lastname: Wu
authors.forename: Xiu-hai
authors.initials: XH
authors.lastname: Guo
authors.forename: Quan-gang
authors.initials: QG
authors.lastname: Xu
authors.forename: De-hui
authors.initials: DH
authors.lastname: Huang
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Mao
authors.forename: Chun-nuan
authors.initials: CN
authors.lastname: Huo
mesh_terms: 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
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type