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[A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family].

Zhonghua yi xue za zhi - 8 Dec 2020

Li H Y, Zhou X L, Guo J F, Tang B S, Fu Y J, Sun J Y

Abstract excerpt

Objective: To report a Chinese family with hypokalemic periodic paralysis (HOKPP) and investigate the clinical and pathogenic gene characteristics of the family. Methods: The clinical, electrophysiological and pathological data of the proband of the family were analyzed, and the information of the family was investigated in detail. The peripheral venous blood of the six members of the family was collected and...

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PMID: 33333687
DOI: 10.3760/cma.j.cn112137-20200421-01265

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