SCN2A重复变异伴DGKD变异致新生儿早发癫痫1例

张 天浪, 高 波, 程 婷婷
广州医科大学附属妇女儿童医疗中心新生儿科

摘要


本研究报告了一例新生儿顽固性癫痫患儿，其基因检测揭示了2q24.3区域SCN2A基因的完整重复变异以及DGKD基因一处未曾报道的新生杂合突变（c.522G>C）。患儿出生后反复出现发绀和强直阵挛性抽搐，对苯巴比妥和左乙拉西坦治疗效果不佳。结合SCN2A基因与钠通道功能异常的关联，改用钠通道阻滞剂奥卡西平治疗，患儿临床症状及脑电图均显著改善。本病例提示SCN2A基因重复变异与DGKD基因变异可能共同作用，导致新生儿癫痫，并强调了精准基因诊断在指导新生儿顽固性癫痫治疗中的重要价值。

关键词


新生儿 癫痫综合征；SCN2A基因；DGKD基因；奥卡西平

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参考


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