Ptacek L J, Gouw L, Kwieciński H, McManis P, Mendell J R, Barohn R J, George A L, Barchi R L, Robertson M, Leppert M F
Department of Neurology, University of Utah Health Sciences Center, Salt Lake City 84132.
Ann Neurol. 1993 Mar;33(3):300-7. doi: 10.1002/ana.410330312.
Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature-sensitive (paramyotonia congenita [PC]) forms. Recent work has revealed that these disorders result from allelic defects in the alpha-subunit of the adult, human skeletal muscle sodium channel. We report an additional mutation, a leucine-->arginine substitution in the S3 segment of domain 4 (L1433R), that results in the PC phenotype. Five other HYPP and PC families have been ascertained, and previously reported sodium channel mutations have been identified in each. Characterization of these mutations and phenotypic variations in such families will contribute to the understanding of sodium channel structure and function relationships, as well as channel malfunction in the periodic paralyses.
临床和电生理数据勾勒出了一系列相似但又不同的周期性麻痹，包括钾敏感型（高钾性周期性麻痹[HYPP]）和温度敏感型（先天性副肌强直[PC]）。最近的研究表明，这些疾病是由成人人类骨骼肌钠通道α亚基的等位基因缺陷引起的。我们报告了另一种突变，即第4结构域S3片段中的亮氨酸→精氨酸替代（L1433R），它导致了PC表型。另外确定了5个HYPP和PC家系，并且在每个家系中都鉴定出了先前报道的钠通道突变。对这些家系中这些突变和表型变异的特征分析将有助于理解钠通道的结构与功能关系，以及周期性麻痹中的通道功能障碍。
