Dravet综合征患儿临床表型与神经元钠离子通道α1亚单位基因突变的相关性分析

doi:10.16098/j.issn.0529-1356.2018.06.019

摘要/Abstract

摘要：

目的探讨神经元钠离子通道α1亚单位（SCN1A）基因突变阳性的Dravet综合征患儿的临床表型特点，从而了解Dravet综合征患儿的病变程度与SCN1A基因突变的相关性。方法回顾性分析2014年1月至2017年1月在海南省农垦三亚医院小儿门诊就诊的43例Dravet综合征患儿及其家系成员的临床资料和SCN1A基因检测结果，以及患儿的心电图、脑电图及核磁共振检查结果。结果 31例Dravet综合征患儿发现SCN1A基因突变阳性，突变类型包括错义突变，移码突变、大片段缺失。SCN1A⁺组患儿发病年龄为（4.32±0.84）月，小于SCN1A^-组（t=2.354；P<0.05）。1岁前月发作频率SCN1A+组为3.24±1.13，而SCN1A^-组为1.77±0.45（t=2.435；P<0.05）。SCN1A⁺组患儿1年内发生癫痫持续状态次数明显高于SCN1A^-组（t=2311；P<0.05）。SCN1A+组中19例患儿出现不同程度的智力减退，而SCN1A-组中3例患儿出现智力减退（P<0.05）。SCN1A⁺组中16例患儿EEG出现背景弥漫性慢波活动，21例为多棘慢波。SCN1A^-组中，2例患儿EEG出现背景弥漫性慢波活动，3例为多棘慢波，两组差异有统计学意义（P<0.05）。结论本研究表明，相比于SCN1A^-组，SCN1A⁺组Dravet综合征患儿发病年龄小，1月前发病次数及平均每年发生癫痫持续状态次数多，智力减退患儿比例大，以及脑电图出现背景弥漫性慢波活动、多棘慢波等异常活动比例大。

关键词: Dravet综合征, 神经元钠离子通道α1亚单位基因, 突变, 相关性研究, 回顾性分析, 儿童

Abstract:

Objective To investigate the clinical phenotype of children with Dravet syndrome of sodium channel α1 submit gene(SCN1A) mutation, so as to understand the relationship between the degree of lesion and the mutation of SCN1A gene in children with Dravet syndrome. Methods Forty-three children with Dravet syndrome and their family members were analyzed retrospectively from January 2014 to February 2017 in Sanya Hospital, Hainan Province. The clinical records, including SCN1A gene mutation, electrocardiogram（ECG），electroencephalograph（EEG）and nuclear magnetic resonance examination result were collected. Results SCN1A gene mutation was found in 31 cases of Dravet syndrome, including missense mutations, frameshift mutations, and large fragment deletions. The age of onset in the SCN1A⁺ group was (4.32±0.84) months, which was younger than that of the SCN1A^- group (t=2.354;P<0.05). The frequency of onset of SCN1A⁺ was 3.24±1.13 and 1.77±0.45 (t=2.435;P<0.05) in the SCN1A^-group. The number of epileptic seizures in the SCN1A⁺ group was significantly higher than that in the SCN1A- group (t=311;P<0.05). In the SCN1A⁺ group, 19 patients had varous degrees of mental retardation, while in the SCN1A^- group, 3 patients developed mental retardation (P<0.05).In the SCN1A⁺ group, 16 cases of children with EEG background diffused slow wave activity, and 21 cases of multispike slow wave. In the SCN1A^-group, there were statistically significant differences between the two groups (P<0.05).Conclusion Compared with SCN1A^- group, the children in SCN1A⁺ group show younger onset of age, higher frequency of onset and the average number of epilepsy status per year, the poorer intelligence and higher ratio of abnormal activity in EEG.

Key words: Dravet syndrome, Sodium channel α1 submit gene, Mutation, Correlation study, Retrospective analysis, Child

张华陈海丹陈泽燕吴慧莲唐江利吴维实吴仕燕洪丽. Dravet综合征患儿临床表型与神经元钠离子通道α1亚单位基因突变的相关性分析[J]. 解剖学报, 2018, 49(6): 809-813.

ZHANG Hua CHEN Hai-dan CHEN Ze-yan WU Hui-lian TANG Jiang-li WU Wei-shi WU Shi-yan HONG Li . Association between the phenotype of Dravet syndrome and sodium channel α1 submit gene mutation[J]. Acta Anatomica Sinica, 2018, 49(6): 809-813.

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