对华南地区 18 名 KCNQ2 基因突变患者的临床和遗传分析

Binbin Cao, B. Peng, Yang Tian, Xiuying Wang, Xiaojing Li, Haixia Zhu, Huiling Shen, Wenxiong Chen
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摘要

背景。我们旨在了解华南地区KCNQ2突变患者的基因型和表型。分析华南地区 KCNQ2 基因突变患者的临床表现和特征。结果。18例KCNQ2突变的癫痫患者,包括7例自限性新生儿癫痫(SeLNE)、2例自限性婴儿癫痫(SeLIE)和9例发育性癫痫性脑病(DEE)。自限性癫痫(SeLE)和发育性癫痫性脑病(DEE)的发病年龄(P=0.006)、突变类型(P=0.029)、张力过高(P=0.000)和发作偏移(P=0.029)均不同。新突变主要在DEE患者中发现(p=0.026)。突变位置、脑电图或发病年龄不能预测DEE患者的癫痫发作或ID/DD结果,而无癫痫发作患者的发展优于有癫痫发作的患者(p=0.008)。钠通道阻滞剂是最有效的抗癫痫药物,而开始使用钠通道阻滞剂的年龄并不影响癫痫发作或发育偏移。我们首次发现华南地区SeLNE/SeLIE的癫痫复发率为23.1%。我们发现了四个新的突变(c.790T>C、c.355_363delGAGAAGAG、c.296+2T>G、20q13.33del)。八种突变(c.1918delC、c.1678C>T、c.683A>G、c.833T>C、c.868G>A、c.638G>A、c.997C>T、c.830C>T)中的每一种都只导致 SeLE 或 DEE,同时还发现了异质性。本研究中的六名患者丰富了由突变(c.365C>T、c.1A>G、c.683A>G、c.833T>C、c.830C>T、c.1678C>T)引起的已知表型。本研究扩展了已知的 KCNQ2 相关癫痫的表型和基因型,以及华南地区 SeLE 和 DEE 的不同临床特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China
Background. We aimed to delineate the genotype and phenotype of patients with KCNQ2 mutations from South China. Methods. Clinical manifestations and characteristics of KCNQ2 mutations of patients from South China were analyzed. Previous patients with mutations detected in this study were reviewed. Results. Eighteen epilepsy patients with KCNQ2 mutations, including seven self-limited neonatal epilepsy (SeLNE), two self-limited infantile epilepsy (SeLIE) and nine developmental and epileptic encephalopathy (DEE) were enrolled. The age of onset (p=0.006), mutation types (p=0.029), hypertonia (p=0.000), and seizure offset (p=0.029) were different in self-limited epilepsy (SeLE) and DEE. De novo mutations were mainly detected in DEE patients (p=0.026). The mutation position, EEG or the age of onset were not predictive for the seizure or ID/DD outcome in DEE, while the development of patients free of seizures was better than that of patients with seizures (p=0.008). Sodium channel blockers were the most effective anti-seizure medication, while the age of starting sodium channel blockers did not affect the seizure or development offset. We first discovered the seizure recurrence ratio in SeLNE/SeLIE was 23.1% in South China. Four novel mutations (c.790T>C, c.355_363delGAGAAGAG, c.296+2T>G, 20q13.33del) were discovered. Each of eight mutations (c.1918delC, c.1678C>T, c.683A>G, c.833T>C, c.868G>A, c.638G>A, c.997C>T, c.830C>T) only resulted in SeLE or DEE, while heterogeneity was also found. Six patients in this study have enriched the known phenotype caused by the mutations (c.365C>T, c.1A>G, c.683A>G, c.833T>C, c.830C>T, c.1678C>T). Conclusion. This research has expanded known phenotype and genotype of KCNQ2-related epilepsy, and the different clinical features of SeLE and DEE from South China.
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