全面性癫伴热性惊厥附加症一家系的临床特点及SCN2A基因分析  

Clinical characters of pedigree of generalized epilepsy with febrile seizures plus and SCN2A gene analysis

作　　者：李海燕[1,2] 李楠[1] 唐北沙[1] 宋延民[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]河南安阳市人民医院神经内科二病区,安阳455000

出　　处：《中国实用神经疾病杂志》2011年第4期1-3,共3页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金(30400261);国家"863"计划项目(2004AA227040)

摘　　要：目的报告一个全面性癫伴热性惊厥附加症(generlized epilepsy with febrile seizures plus,GEFS+)家系,并探讨其临床及基因特点。方法对该家系进行全面的调查,对其临床资料进行回顾性分析;采集该家系38名成员的静脉血并抽提其基因组DNA,采用PCR-DNA直接测序和PCR-单链构象多态性分析对该家系进行SCN2A基因突变分析。结果该家系4代患者11例,均于3岁左右出现热性惊厥,6岁后消失,智能及体格发育无异常,血生化、染色体分析及头颅CT正常;先证者6岁后出现了无热惊厥,脑电图可见到癫波发放;先证者之子脑电图有癫波发放,但临床无癫发作,为亚临床患者;SCN2A基因分析未发现致病突变。结论 GEFS+具有临床和遗传异质性,发作间期脑电图可有癫波发放,SCN2A不是该家系的致病基因。Objective To report a pedigree of generalized epilepsy with febrile seizures plus（GEFS＋） and investigate its characters of clinic,electroencephalogram（EEG） and gene.Methods The clinical data of this family were analyzed.The blood samples of 38 members were collected.By PCR-DNA direct sequencing and PCR-singal strand conformation polymorphism（SSCP）,the mutation analysis of SCN2A gene was performed in the pedigree.Results There were 11 patients with GEFS＋ in the four-generation family.The seizures were observed in every patient at the age of year 3 and disappeared before 6 years old,the outcome of every patient was well.The seizure charges were observed in 24 hour EEG in the proband and her son,but her son didn＇t present seizure,so he is a sub-clinic patient.No gene mutation of SCN2A was found in the proband.Conclusion GEFS＋ is a generalized epilepsy syndrome with clinic heterogeneity.Interictal electroencephalogram（EEG） may be present seizure charges.This GEFS＋ family wasn＇t caused by SCN2A gene mutation,which suggested the genetic heterogeneity.

关 键 词：全面性癫 热性惊厥 SCN2A基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]