Guo Xiu-hai, Wu Wei-ping, Zhang Yan-hua, Wang Hong-bin, Mao Yan-ling, Zhu Ke
Department of Neurology, General Hospital of People's Liberation Army, Beijing 100853, China.
Zhonghua Yi Xue Za Zhi. 2004 Jan 17;84(2):125-9.
To study the clinical features of normokalemic periodic paralysis (normoKPP) and to confirm the relation between Met1592Val mutation and normoKPP and clarify its clinical features.
The clinical features of 14 patients in a Chinese family of normoKPP were summarized. All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology, and then sequence analysis was performed on those with abnormal elution peak.
This family showed typical clinical features of normoKPP without myotonia. The progress of most patients was benign. Two missence mutations were found in exon 1 and exon 24 respectively. Linkage analysis and direct sequencing showed the mutation in exon 1 was g189a, a benign polymorphism, and the mutation Met1592Val in exon 24 was responsible for this disease.
The mutation Met1592Val does exist in Chinese patients, and lead to normoKPP. NormoKPP is similar to hyperKPP not only in clinical futures but also in genetic level.
研究正常血钾型周期性瘫痪（normoKPP）的临床特征，明确Met1592Val突变与normoKPP的关系并阐明其临床特征。
总结一个中国normoKPP家系中14例患者的临床特征。采用变性高效液相色谱（DHPLC）技术对SCN4A基因的全部24个外显子进行筛查，对洗脱峰异常者进行序列分析。
该家系表现出典型的无肌强直的normoKPP临床特征。多数患者病情进展良性。分别在外显子1和外显子24发现两个错义突变。连锁分析和直接测序显示外显子1的突变g189a为良性多态性，外显子24的Met1592Val突变导致本病。
Met1592Val突变在中国患者中确实存在，并导致normoKPP。NormoKPP不仅在临床特征上，而且在基因水平上与高血钾型周期性瘫痪相似。
