中文摘要：

目的 探讨不明原因智力障碍共患癫痫（ID-E）患者的临床特点、病因及预后。方法 对2015年3月至2016年3月中南大学湘雅医院儿科40例不明原因ID-E患者的临床特点、病因及癫痫控制情况进行回顾性分析，并对所有患者进行随访。结果 40例不明原因ID-E患者中男25例（62.5%），重度智力障碍34例（85.0%）。癫痫首次发作年龄为0.16～8.00岁（中位年龄1.5岁），脑电图背景慢化20例（50.0%），局灶性放电22例（55.0%）。头颅磁共振异常10例（25.0%），主要为脑发育异常及脑萎缩。随访时间0.58～1.58年，癫痫发作控制19例（47.5%），25例（62.5%）在病程中使用2种及2种以上抗癫痫药物，药物难治性癫痫患者占47.5%（19例）。癫痫发作控制患儿及未控制患儿精神运动发育改善分别为12例（63.2%）及2例（9.5%）。通过全基因组拷贝数变异（CNVs）检测及CNVs检测阴性部分患者进行基因靶向捕获测序检测，分别有8例（8/40例，20.0%）及3例（3/16例，18.8%）明确了遗传学病因。结论 不明原因ID-E患者男性多见，智力受损程度重，药物难治性癫痫比例高，有效控制癫痫发作有助于患者精神运动发育。遗传病因学检测对于癫痫的控制、预后评估有重要作用，全基因组CNVs检测阳性率高，可作为临床一线遗传学检测手段。

英文摘要：

Objective To explore the clinical features, genetic causes and prognosis of intellectual disability with epilepsy（ID-E） in children.Methods The data of unknown causes of ID-E children（n=40） who were identified in Department of Pediatrics, Xiangya Hospital of Central South University from March 2015 to March 2016 were respectively analyzed, and follow-up studies were performed to investigate the epilepsy control and intellectual deve-lopment.Results Forty unexplained ID-E included 25（62.5%） male, and 34（85.0%） cases were severe intellectual disability patients.The onset age of epilepsy was 0.16 to 8.00 years old, median age was 1.5 years old.Twenty cases （50.0%） had slow electroencephalogram background, and 22 cases（55.0%） had focal spikes.Ten cases（25.0%） had abnormal cranial images, with brain dysplasia or atrophy.Follow-up lasted from 0.58 to 1.58 years, and 19 cases （47.5%） had seizure control.Twenty-five cases （62.5%） had used at least 2 anti-epilepsy drugs during follow-up, and 19 cases （47.5%） had drug refractory epilepsy.Improvement of mental or motor development in epilepsy controlled group and the uncontrolled group were 12 cases （63.2%） and 2 cases （9.5%）. There were separately 8 cases（8/40 cases, 20.0%） and 3 cases（3/16 cases, 18.8%） diagnosed respectively by whole genome-wide analysis of copy number variants（CNVs） and gene-panel whose CNVs test findings were negative.Conclusions ID-E patients of unknown causes have the following clinical features： they were mostly found in male patients with severe intellectual disability, and drug refractory epilepsy patients have rather high percentage; well controlling of epilepsy is useful for improvement of mental and motor development.Genetic analysis is significant for control and prognosis of ID-E patients, and genome-wide CNVs have high positive rates which can be used as first-tier test to detect genetic etiology of ID-E of unknown cause.