实用医学杂志Issue(5)：729-731,3.DOI:10.3969/j.issn.1006-5725.2014.05.017
热性惊厥附加症伴孤独症临床特征及与SCN1A基因突变的相关性分析
Correlation analysis of clinic and SCN1A mutation in febrile seizures plus with autism
摘要
Abstract
Objective To study the clinical characteristics of autism in febrile seizures plus (FS+) and the relationship between autism and SCN1A mutation. Methods Clinical data of 103 patients with FS+ treated in epilepsy centre of the Second Affiliated Hospital of Guangzhou Medical University were collected and analyzed. According to the international criteria, generalized epilepsy with febrile seizures plus (GEFS+), partial seizures with febrile seizures plus (PEFS+), Dravet syndrome (DS) and autism were diagnosed. Genomic DNA was obtained from blood samples. SCN1A were PCR amplified and mutations were detected by DHPLC and sequencing. Result Mental retardation was found in 53.8%of patients with GEFS+, 69.2%of patients with PEFS+, and all patients with DS, respectively. One in GEFS+, one in PEFS+and nine in DS patients were accompanied with autism (P<0.01). Among FS+patients with autism, one SCN1A mutation was found in PEFS+patients, while six SCN1A mutations were found in DS patients. Conclusions Majority of GEFS+and PEFS+patients showed mental retardation, while all the DS patients were accompanied with retardation. The occurrence of autism with DS is higher than GEFS+and PEFS+. No definite relationship between autism and SCN1A mutation was indicated.关键词
癫痫/孤独症/热性惊厥附加症/精神运动发育迟滞/SCN1AKey words
Epilepsy/Autism/Febrile seizures plus/Mental retardation/SCN1A引用本文复制引用
张美品,廖卫平,黎冰梅,孟珩,何娜,高曲文,秦兵,陈勇军,石奕武,陈亮,易咏红..热性惊厥附加症伴孤独症临床特征及与SCN1A基因突变的相关性分析[J].实用医学杂志,2014,(5):729-731,3.基金项目
广东省科技计划项目（编号2011B061300094）；佛山市科技局课题（编号200908074）；广州医科大学博士启动基金项目 （）
