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

Abstract excerpt

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。.

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