[Two cases of potassium-aggravated myotonia induced by SCN4A gene variation]

Y J Zhang; L F Dai; S S Ren; C H Ding

doi:10.3760/cma.j.cn112140-20230731-00054

[Two cases of potassium-aggravated myotonia induced by SCN4A gene variation]

Zhonghua Er Ke Za Zhi. 2023 Nov 2;61(11):1043-1045. doi: 10.3760/cma.j.cn112140-20230731-00054.

[Article in Chinese]

Authors

Y J Zhang¹, L F Dai², S S Ren¹, C H Ding²

Affiliations

¹ Department of Neurology, Baoding Hospital, Beijing Children's Hospital Affiliated to Capital Medical University, Baoding 071000, China.
² Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.

PMID: 37899345
DOI: 10.3760/cma.j.cn112140-20230731-00054

Abstract

2例患儿为同胞姐弟，分别为7岁和2岁，均表现为发作性肢体活动障碍，感染、运动、食用香蕉后加重，幼时有发作性憋气、睁眼困难。基因检测发现2例患儿均为SCN4A基因22号外显子c.3917G>A（p.G1306E）发生错义变异，经基因深度测序发现患儿母亲该位点存在嵌合变异，变异率1.0236%，父亲为野生型，2例患儿确诊为钾加重性肌强直。给予低钾饮食、乙酰唑胺治疗，随诊8个月症状明显改善。.

Publication types

Case Reports

MeSH terms

Humans
Mutation
Myotonia Congenita* / genetics
NAV1.4 Voltage-Gated Sodium Channel / genetics

Substances

SCN4A protein, human
NAV1.4 Voltage-Gated Sodium Channel

Supplementary concepts

Potassium aggravated myotonia