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目的:分析1个遗传性癫痫伴热性惊厥附加症(genetic epilepsy with febrile seizures plus，GEFS+)家系的临床表型及遗传特征进行分析。方法:收集先证者及其家系成员的临床资料并提取外周血DNA，对先证者采用高通量测序以确定潜在的变异位点，对其家系成员采用Sanger测序进行验证。结果:该家系为典型的GEFS+家系，3代共6人发病，其中2例为热性惊厥，1例为热性惊厥附加症，3例为热性惊厥伴局灶性发作。基因测序显示先证者携带n SCN1A基因c.4522T>A(p.Tyr1508Asn)杂合错义变异，Sanger测序证实该家系其余5例发病成员和1例正常成员均携带该变异，外显率约为85.7%。n 结论:SCN1A基因c.4522T>A(p.Tyr1508Asn)变异很可能是该家系的发病原因，其遗传方式符合常染色体显性遗传伴不完全外显。新变异的检出丰富了n SCN1A基因的变异谱。n “,”Objective:To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+ ).Methods:Clinical data of the proband and his family members were collected.Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members.Results:The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+ . Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+ ), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c. 4522T>A (p.Tyr1508Asn) of then SCN1A gene.Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%.n Conclusion:The c. 4522T>A (p.Tyr1508Asn) of then SCN1A gene probably underlay the disease in this pedigree.The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the n SCN1A gene.n