title: Mutation screening in Chinese hypokalemic periodic paralysis patients.
abstract: Thyrotoxic periodic paralysis (TPP), familial periodic paralysis (FPP), and sporadic periodic paralysis (SPP) are the most common causes of hypokalemic periodic paralysis (hypoKPP). The patients present with similar clinical features characterized by episodic attacks of muscle weakness and a decrease in blood potassium. Mutations in the gene encoding the voltage-sensor coding regions of the skeletal muscle sodium channel gene (SCN4A) and the alpha-1 subunit of the skeletal muscle calcium channel gene were analyzed in 23 Chinese hypoKPP patients, including 1 FPP pedigree, 14 TPP patients, and 8 SPP patients. In addition, R83H mutation of the potassium channel subunit gene which was originally published as periodic paralysis mutation was also analyzed. A heterozygous CGT-TGT mutation at codon 672 in SCN4A gene was identified to segregate with the disease in the FPP family. Mutations in these regions were excluded in those patients with SPP and TPP. The results suggest that a likely genetic basis for FPP does not contribute to TPP and SPP, despite close similarities among FPP, TPP, and SPP.
authors.affiliation: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Ruijin Hospital, Shanghai Jiaotong University, Medical School, PR China.
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wang
authors.forename: Lei
authors.initials: L
authors.lastname: Jiang
authors.forename: Lei
authors.initials: L
authors.lastname: Ye
authors.forename: Na
authors.initials: N
authors.lastname: Zhu
authors.forename: Tingwei
authors.initials: T
authors.lastname: Su
authors.forename: Liqing
authors.initials: L
authors.lastname: Guan
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Li
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000235:genetics; D020746:Calcium Channels, L-Type; D002681:China; D005260:Female; D005820:Genetic Testing; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D009154:Mutation; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010375:Pedigree; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; C418492:KCNE3 protein, human; D062553:NAV1.4 Voltage-Gated Sodium Channel; D024642:Potassium Channels, Voltage-Gated; D021122:Protein Subunits; C106251:SCN4A protein, human; D015222:Sodium Channels