Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures
Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures
复制标题
中国癫痫或严重癫痫患者的 SCN1A 和 SCN2A 突变与临床/脑电图特征之间的关联
DOI：
10.1016/j.cca.2018.03.027
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发表时间：
2018
影响因子：
5
通讯作者：
Zhou Wenhao
中科院分区：
文献类型：
--
作者：
Kong Yanting;Yan Kai;Hu Liyuan;Wang Mingbang;Dong Xinran;Lu Yulan;Wu Bingbing;Wang Huijun;Zhou Wenhao;Dong Xinran;Lu Yulan;Wu Bingbing;Wang Huijun;Yang Lin;Zhou Wenhao
目的探讨SCN1A和SCN2A突变与临床表型和脑电(EEG)特征的关系。结果共检测到47个突变，其中包括33个新突变。SCN1A突变(1~6 m)引起的癫痫发病大多晚于SCN2A突变(新生儿)，SCN1A突变包括截断突变和关键部位错义突变与更严重的表型和发育迟缓有关(85.7%，P= 0.020)，SCN2A突变的去突变或截断突变主要与严重表型相关。SCN2A型首发异常脑电比例高于SCN1A型(54.2%，100%)。SCN1A突变患者的局灶性癫痫样放电较多(69.2%)，而SCN2A突变患者的多灶性癫痫样放电(53.8%)较多。钠通道阻滞剂对SCN1A型和SCN2A型突变伴早期癫痫发作的患者疗效较差。结论本研究扩大了SCN1A型和SCN2A型突变谱，使我们更好地了解了这两个基因在遗传和临床特征上的异同。
BackgroundWe investigated the association betweenSCN1AandSCN2Amutations and clinical phenotype and electroencephalography (EEG) features.MethodsIn this study, 48 patients suffered from epilepsy or severe seizures withSCN1AandSCN2Amutations were recruited. Medical data and molecular diagnosis were analyzed.ResultsA total of 47 mutations were identified, including 33 novel mutations. The onset of most epilepsy caused bySCN1Amutations (1-6 m) was later than that ofSCN2Amutations (neonatal).SCN1Amutations included truncating mutations and missense mutations occurred in the crucial region were associated with more severe phenotypes and developmental delay (85.7%,P= 0.020).De novomutations or truncating mutations ofSCN2Amutations are mainly associated with severe phenotypes. The proportion of initial abnormal EEG ofSCN2Amutation was higher than that ofSCN1Amutation (54.2%, 100%). Patients withSCN1Amutations showed more focal epileptiform discharges (69.2%), while patients withSCN2Amutations had more multifocal epileptiform discharges (53.8%). Sodium channel blockers were less effective for patients withSCN1Amutations andSCN2Amutations with early seizures onset.ConclusionsOur study expanded the mutation spectrum of theSCN1AandSCN2A, and led to a better understanding of the similarities and difference in the genetic and clinical features between the two genes.