Abstract:

Objective　To investigate the clinical phenotype of children with early-onset epileptic encephalopathy and dyskinesia. Methods　The patients with early onset epileptic encephalopathy and dyskinesia were enrolled from September 2013 to September 2017. The clinical data was retrospectively analyzed. Results　A total of 5 children with early onset epileptic encephalopathy with dyskinesia were collected. Including 1 male and 4 females. 1 case of dyskinesia showed dancing-like movements，2 cases of dyslexia，ataxia mixed，1 case of limb tremor accompanied by wrist alternating twisting action，1 case of muscle tension associated with tremor，speech is unclear. 4 cases were positive for 1 genotype，1 case was mutation of SCN1A gene，2 cases were PRRT2 gene mutation，1 case was SLC2A1 gene mutation. After treatment，2 cases of seizure control effect is good，3 cases of poor results. Conclusion　Early onset epileptic encephalopathy with dyskinesia is easy misdiagnosed as epileptic seizures. Genetic associated with the pathogenic genes are mostly reported in the previous gene，PRRT2 gene，SLC2A1 gene mutation. Early onset of epilepsy with dyskinesia caused by SCN1A gene mutation has rarely been reported in the literature. Some children enjoy good results.

Key words: early-onset epileptic encephalopathy, dyskinasia, gene, mutation

摘要：

目的　探讨早发性癫痫脑病伴运动障碍患儿临床特点，提高认识，正确诊治。方法　收集2013年9月至 2017年9月华中科技大学同济医学院附属武汉儿童医院神经内科收治的早发性癫痫脑病伴运动障碍患儿5例，对其临床资料进行回顾性分析。结果　共收集5例患儿，男1例，女4例。1例运动障碍表现为手舞足蹈样动作，2例为运动障碍震颤、共济失调混杂，1例为四肢震颤伴有手腕部交替扭曲动作，1例为肌张力不全伴有震颤、言语不清表现。4例基因检测为阳性，1例为SCN1A基因突变，2例为PRRT2基因突变，1例为SLC2A1基因突变。经治疗，2例控制，效果好，3例效果差。结论　早发性癫痫脑病伴运动障碍，容易漏诊或误诊为癫痫发作，与遗传有一定关联，致病基因为PRRT2、SLC2A1基因。SCN1A基因突变相关性早发性癫痫脑病伴运动障碍相对少见。部分患儿治疗效果好。

关键词: 早发性癫痫脑病, 运动障碍, 基因, 突变