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基因突变癫痫患儿6例的临床表征与基因型特征分析

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摘要 目的探讨基因突变的癫痫患儿的临床发病特点和基因型特征。方法收集2017年1月~2021年8月郴州市妇幼保健院、郴州市第一人民医院儿科收治的47例癫痫患儿的血样标本及其临床资料,行第二代高通量测序,对测序结果进行分析,观察并记录发生基因突变的癫痫患儿的临床表征。结果47例癫痫患儿中,6例患儿存在基因突变,共涉及4个基因,分别为GRIN2A基因c.1341T>A,GABRG2基因c.269C>T和c.649C>T,SCN3A基因c.905A>G,SCN9A基因c.1115G>A和c.5231A>G,基因突变检出阳性率为12.8%(6/47)。患儿存在全面性强直阵挛发作、肌阵挛发作、局灶性发作、失神发作等临床表现,并出现智力或运动发育落后以及孤独症等癫痫共患病。结论遗传性因素是导致癫痫患儿患病的主要原因之一,提示遗传学诊断对癫痫患儿的早期治疗具有重要意义。
出处 《湘南学院学报(医学版)》 2021年第3期47-51,共5页 Journal of Xiangnan University(Medical Sciences)
基金 郴州市科技局科研资助项目(zdyf201823)。
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