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目的探讨全面性癫伴热性惊厥附加症(GEFS+)的临床特点。方法收集2004年1月-2009年12月收治的8个GEFS+家系资料,详细调查及建立家系图谱,并对患者及家系成员的临床症状和体征进行总结分析。对各个家系的临床发作和癫综合征进行分类。应用SPSS13.0软件进行统计学分析。结果 8个家系共有101名家系成员接受调查,结果发现受累患者37例。其中特发性全面性癫2例,不能分类者3例;符合GEFS+临床表型患者32例(死亡1例),其中男19例,女13例;男女性别比较差异无统计学意义(χ2=0.40,P>0.05);表现为热性惊厥(FS)者21例,热性惊厥附加症(FS+)者6例,FS+伴失神发作2例,FS+伴局灶性发作2例,FS+伴肌阵挛1例。结论 FS+是一种常见儿童时期起病的癫综合征,常见表型为FS和FS+,少见的表型为FS+伴失神发作、FS+伴肌阵挛发作、FS+伴局灶性发作等。FS+家系符合常染色体不完全显性遗传,具有明显的表型异质性和遗传异质性。
Objective To investigate the clinical features of total epilepsy with febrile seizures (GEFS +). Methods The data of 8 GEFS + pedigrees collected from January 2004 to December 2009 were collected, and the pedigree maps were investigated in detail. The clinical symptoms and signs of the patients and their family members were analyzed. Clinical family history and epilepsy syndrome were classified. Application SPSS13.0 software for statistical analysis. Results A total of 101 pedigree members of 8 pedigrees were investigated and found that 37 patients were involved. Among them, 2 cases were idiopathic generalized epilepsy and 3 cases could not be classified. 32 cases (1 died) with GEFS + clinical phenotype were found, including 19 males and 13 females. There was no significant difference between males and females (χ2 = 0.40, P> 0.05). There were 21 cases with febrile seizures (FS), 6 cases with febrile seizures (FS +), 2 cases with FS + seizures, 2 cases with FS + with focal seizures, Myoclonus in 1 case. Conclusion FS + is a common childhood onset epilepsy syndrome. The common phenotypes are FS and FS +. The rare phenotypes are FS + with absence of seizures, FS + with myoclonus and FS + with focal seizures. FS + family line with autosomal imperfection dominant inheritance, with obvious phenotypic heterogeneity and genetic heterogeneity.