OBJECTIVEMutation 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.

METHODSThe 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.

RESULTSTwo 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.

CONCLUSIONThe mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.

Adolescent ; Adult ; Base Sequence ; Calcium Channels ; genetics ; China ; DNA Mutational Analysis ; Family Health ; Female ; Humans ; Hypokalemic Periodic Paralysis ; genetics ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction