一个全面性癫痫伴热性惊厥附加症家系的临床表型及SCN1A基因突变筛查

Clinical phenotyes and gene mutation screening of SCN1A in a family with generalized epilepsy with febrile seizures plus

目的观察全面性癫痫伴热性惊厥附加症家系(GEFS+)的临床表型,并分析有无钠通道α1亚单位基因(SCN1A)突变。方法收集先证者及家系成员临床资料及外周血,提取基因组DNA,设计引物,进行PCR扩增,琼脂糖凝胶电泳,选取符合条件的PCR产物进行双向测序。结果该家系临床表型包括热性惊厥(FS)、热性惊厥附加症(FS+)伴失神发作,通过PCR对所有SCN1A的所有外显子进行扩增,所有患者和50例正常对照的测序结果与基因组序列相对比,均未发现碱基改变。结论全面性癫痫伴热性惊厥附加症是一种复杂综合征,具有表型异质性,在本家系中未发现SCN1A基因的突变,表明GEFS+具有遗传异质性。

Objective To investigate the clinical phenotyes and gene mutations of SCN1A in a family with generalized epilepsy with febrile seizures plus. Methods Firstly, detailed peripheral blood lymphocytes of the proband and other available members in the family, genome DNA was extracted and primers were designed.Secondly, destination genes were amplified by PCR ,and agrose gel electrophoresis was done to check the PCR products.Lastly, PCR products were sequenced.Results The phenotypes included febrile seizures, febrile seizures plus with abence seizure in the family . We amplified all the exons of the SCNIA by PCR. No base alterations were found compared to the gene bank in all the subjects.Conclusions GEFS＋ is a complex disorder with phenotypic heterogeneity. There was no gene mutations of SCN1A in the GEFS＋ family. And GEFS＋ is also genetic heterogeneity.