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Abstract：
UNASSIGNED: Genetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.
UNASSIGNED: We obtained a Japanese nationwide case series of 119 index patients (108 men and 11 women) clinically suspected of periodic paralysis, and a gene panel analysis, targeting CACNA1S, SCN4A, and KCNJ2 genes, was conducted.
UNASSIGNED: From 34 cases, 25 pathogenic/likely pathogenic/unknown significance variants were detected in CACNA1S (nine cases), SCN4A (19 cases), or KCNJ2 (six cases), generating a molecular diagnostic rate of 28.6%. In total, seven variants have yet been found linked to periodic paralysis previously. The diagnostic yield of patients with hypokalemic and hyperkalemic periodic paralyzes was 26.2 (17/65) and 32.7% (17/52), respectively. A considerably higher yield was procured from patients with than without positive family history (18/25 vs. 16/94), onset age ≤20 years (24/57 vs. 9/59), or recurrent paralytic attacks (31/94 vs. 3/25).
UNASSIGNED: The low molecular diagnostic rate and specific genetic proportion of the present study highlight the etiological complexity of patients with periodic paralysis in Japan.
UNASSIGNED: We obtained a Japanese nationwide case series of 119 index patients (108 men and 11 women) clinically suspected of periodic paralysis, and a gene panel analysis, targeting CACNA1S, SCN4A, and KCNJ2 genes, was conducted.
UNASSIGNED: From 34 cases, 25 pathogenic/likely pathogenic/unknown significance variants were detected in CACNA1S (nine cases), SCN4A (19 cases), or KCNJ2 (six cases), generating a molecular diagnostic rate of 28.6%. In total, seven variants have yet been found linked to periodic paralysis previously. The diagnostic yield of patients with hypokalemic and hyperkalemic periodic paralyzes was 26.2 (17/65) and 32.7% (17/52), respectively. A considerably higher yield was procured from patients with than without positive family history (18/25 vs. 16/94), onset age ≤20 years (24/57 vs. 9/59), or recurrent paralytic attacks (31/94 vs. 3/25).
UNASSIGNED: The low molecular diagnostic rate and specific genetic proportion of the present study highlight the etiological complexity of patients with periodic paralysis in Japan.
摘要：
未经证实：遗传因素被认为是周期性瘫痪患者的主要原因。这项研究的目的是确定日本周期性瘫痪的遗传原因。
UNASSIGNED：我们获得了日本全国范围的119名临床怀疑周期性瘫痪的患者（108名男性和11名女性）的病例系列，和基因面板分析，针对CACNA1S，SCN4A,和KCNJ2基因,进行了。
未经评估：来自34例，在CACNA1S（9例）中检测到25个致病性/可能致病性/未知意义的变异，SCN4A（19例），或KCNJ2（6例），产生28.6%的分子诊断率。总的来说,以前还发现了7种变异与周期性瘫痪有关.低钾血症和高钾血症周期性麻痹患者的诊断率分别为26.2（17/65）和32.7％（17/52）。分别。有积极家族史的患者比没有积极家族史的患者获得了高得多的产量（18/25vs.16/94），发病年龄≤20岁(24/57vs.9/59），或反复发作的麻痹性发作(31/94vs.3/25）。
UNASSIGNED：本研究的低分子诊断率和特定遗传比例突出了日本周期性瘫痪患者的病因复杂性。
UNASSIGNED：我们获得了日本全国范围的119名临床怀疑周期性瘫痪的患者（108名男性和11名女性）的病例系列，
未经评估：来自34例，
UNASSIGNED：本研究的低分子诊断率和特定遗传比例突出了日本周期性瘫痪患者的病因复杂性。
