癫痫性脑病伴运动障碍和关节挛缩症:SCN1A基因变异1例  

Epileptic encephalopathy with movement disorder and arthrogryposis:a case with SCN1A gene variant

作　　者：赵海青 邹丽萍[1,2] 卢倩[1] 王杨阳[1] 敦硕[1] 王秋红 王嘉[1] 张淇[1] Zhao Haiqing;Zou Liping;Lu Qian;Wang Yangyang;Dun Shuo;Wang Qiuhong;Wang Jia;Zhang Qi(Senior Department of Pediatrics,People′s Liberation Army General Hospital,Beijing 100853,China;Medical Department of Nankai University School of Medicine,Tianjin 300071,China)

机构地区：[1]解放军总医院儿科学部,北京100853 [2]南开大学医学院,天津300071

出　　处：《中华神经科杂志》2025年第3期299-302,共4页Chinese Journal of Neurology

基　　金：国家重点研发计划(2023YFC2706304);北京亦城合作发展基金会(YCXJJZ-2023-017-016)。

摘　　要：报道1例SCN1A基因功能获得性变异的新生儿发育和癫痫性脑病伴运动障碍和关节挛缩(NDEEMA)患者的临床特点。患儿为1岁9月龄的男婴,生后2 h开始出现癫痫发作,伴有漏斗胸、髋关节脱位和双足内翻的畸形体征。基因检测示存在SCN1A基因新发错义突变c.706A>G(p.Ile236Val),导致钠离子通道功能增强。患儿在给予奥卡西平治疗后发作明显减少。The clinical characteristics of a neonatal patient with movement disorder and arthrogryposis(NDEEMA)caused by gain-of-function mutation of the SCN1A gene were reported in this article.The 1-year-and-9-month-old boy started seizures since 2 hours after birth.He had funnel-breast,dislocation of the hip,and bipedal varus.Genetic testing showed SCN1A gene de novo missense mutation c.706A>G(p.Ile236Val),causing overall gain-of-function effect.The frequency of seizures decreased significantly after treatment of oxcarbazepine.

关 键 词：癫痫 婴儿 运动障碍 发育障碍 SCN1A基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]