吴计划, 杨广娥, 何远知, 叶小飞, 江亮亮, 杨斌. SCN1A基因突变特点及相关癫痫的临床特征[J]. 蚌埠医学院学报, 2020, 45(1): 51-56. DOI: 10.13898/j.cnki.issn.1000-2200.2020.01.013
    引用本文: 吴计划, 杨广娥, 何远知, 叶小飞, 江亮亮, 杨斌. SCN1A基因突变特点及相关癫痫的临床特征[J]. 蚌埠医学院学报, 2020, 45(1): 51-56. DOI: 10.13898/j.cnki.issn.1000-2200.2020.01.013
    WU Ji-hua, YANG Guang-e, HE Yuan-zhi, YE Xiao-fei, JIANG Liang-liang, YANG Bin. Study on the characteristics of SCN1A gene mutations, and clinical characteristics of related epilepsy[J]. Journal of Bengbu Medical College, 2020, 45(1): 51-56. DOI: 10.13898/j.cnki.issn.1000-2200.2020.01.013
    Citation: WU Ji-hua, YANG Guang-e, HE Yuan-zhi, YE Xiao-fei, JIANG Liang-liang, YANG Bin. Study on the characteristics of SCN1A gene mutations, and clinical characteristics of related epilepsy[J]. Journal of Bengbu Medical College, 2020, 45(1): 51-56. DOI: 10.13898/j.cnki.issn.1000-2200.2020.01.013

    SCN1A基因突变特点及相关癫痫的临床特征

    Study on the characteristics of SCN1A gene mutations, and clinical characteristics of related epilepsy

    • 摘要:
      目的总结SCN1A基因突变特点及相关癫痫的临床特征。
      方法收集在安徽省儿童医院诊治的癫痫患儿,通过基因测序发现SCN1A基因阳性突变,总结和分析SCN1A基因突变特点及相关癫痫的临床特征。
      结果共19例SCN1A基因突变阳性,其中错义突变8例,无义突变7例,移码突变1例,剪切点突变2例,非移码缺失1例;遗传突变3例,新生突变16例。癫痫起病年龄小于6月17例,癫痫丛集性发作14例,癫痫持续状态16例,发育落后14例。诊断Dravet综合征11例,其中新生突变8例。随访结果,发作减少 < 50%的6例,发作减少>50%的11例,1例死亡,1例失访。
      结论SCN1A突变患儿癫痫发病年龄早,较为严重且常见以新生突变为主的是Dravet综合征。早期诊断有助于选择适当治疗方案,改善预后。

       

      Abstract:
      ObjectiveTo summarize the characteristics of SCN1A gene mutation, and clinical characteristics of related epilepsy.
      MethodsThe positive mutations of SCN1A gene in epilepsy children from Anhui Children's Hospital were investigated using gene sequencing, and the characteristics of SCN1A gene mutation and clinical characteristics of related epilepsy were summarized and analyzed.
      ResultsAmong 19 cases with SCN1A gene mutations, 8 cases with missense mutation, 7 cases with nonsense mutation, 1 case with frameshift mutation, 2 cases with shear point mutation and 1 case with non-frameshift deletion were identified.Three cases with genetic mutation and 16 cases with neonatal mutation were found.The onset age of epilepsy in 17 cases were less than 6 months.The cluster seizures in 14 cases, status epilepticus in 16 cases, and developmental retardation in 14 cases were found.Eleven cases with Dravet syndrome were diagnosed, and which included 8 cases with newborn mutations.The results of following-up showed that the seizure reduction in 6 cases were less than 50%, the seizure reduction in 11 cases were greater than 50%, 1 case died, and 1 case lost following-up.
      ConclusionsThe onset age of epilepsy in children with SCN1A mutation is early, and the Dravet syndrome is the most serious and common newborn mutations.Early diagnosis is helpful to choose the appropriate treatment scheme, and improve the prognosis.

       

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