良性家族性婴儿惊厥一家系的临床、脑电图及致病基因分析

The characters of clinic,electroencephalogram and gene in a Chinese family with benign familial infantile convulsions

目的报告一个新的良性家族性婴儿惊厥(benign familial infantile convulsions or seizures,BFIC或BFIS)家系,并探讨其临床、脑电图及疾病基因特点。方法对该家系进行详细的调查,并对其临床资料、脑电图进行分析。采集该家系11名成员的静脉血并抽提其基因组DNA,采用PCR-DNA直接测序及PCR-单链构象多态性分析的方法对先证者进行KCNQ2、KCNQ3和SCN2A基因突变分析。结果该家系3代共有患者6例,均于出生后6个月左右出现无热性癫痫发作,1岁之内完全消失,智能及体格发育正常,血生化、染色体核型分析及头部影像学检查未见异常。先证者于15岁时出现了发作性运动障碍,24h动态脑电图可见癫痫波发放,KCNQ2、KCNQ3和SCN2A基因突变分析未在该家系发现致病突变。结论BFIC具有临床和遗传异质性,可伴发作性运动障碍,且脑电图可有癫痫波发放;KCNQ2、KCNQ3和SCN2A不是该家系的致病基因,可能存在新的致病基因。

Objective To report a Chinese family with benign familial infantile convulsions （BFIC） and paroxysmal kinesigenic dyskinesia and investigate its characters of clinic,electroencephalogram（EEG） and gene. Methods The clinical data of this family was analyzed. The blood samples of 11 members were collected. By PCR-DNA direct sequencing,the mutation analysis of KCNQ2, KCNQ3 and SCN2A gene was made for the proband. Results There were 6 patients with BFIC in the three generation family. The seizures were observed in every patient at the age of month 6 and disappeared around the age of one years old,the outcome of every patient was well. The proband presented paroxysmal kinesigenic dyskinesia at the age of 15 years old, the seizure charges were observed in 24 hour EEG. No gene mutation of KCNQ2, KCNQ3 and SCN2A was found in the proband. Conclusion BFIC patient can be accompanied by PKD,PKD patient may have the abnormal EEG. This BFIC family wasn＇ t caused by the mutation of KCNQ2, KCNQ3 and SCN2A gene,which suggested genetic heterogeneity and a new locus for BFIC.