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
李海燕,李楠,唐北沙,宋延民
摘要(Abstract)：
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。
关键词(KeyWords)： 全面性癫;热性惊厥;SCN2A基因
基金项目(Foundation): 国家自然科学基金(30400261);; 国家“863”计划项目(2004AA227040)
作者(Author): 李海燕,李楠,唐北沙,宋延民
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