探讨全面性癫痫伴热性惊厥附加症(GEFS⁺)的临床特点。

通过诊断收集2个GEFS⁺家系，并对受累者全面检查，建立了全面的家系谱和该病详细的临床资料。结合其临床资料和国内外文献对该病进行了分析、总结。

本组2个家系共有53位成员，其中受累者11例，男性7例，女性4例，患者年龄为10个月至39岁，起病年龄为6个月至5岁，具有广泛的临床发作谱。受累者中，FS 6例，FS⁺2例，FS⁺伴失神发作1例，FS⁺伴失张力发作2例。所有脑电图异常者均呈现全面性癫痫样放电。其中，5例患者目前给予抗癫痫药治疗，症状控制良好。本组所有受累者神经系统检查以及头颅CT或MRI检查正常。

GEFS⁺是一种儿童时期常见的呈现常染色体显性遗传方式的癫痫综合征。其临床发作以FS和FS⁺为主要表型，并且在FS⁺的基础上多合并全面性癫痫发作。家族史调查是诊断该病的关键。

To analyze the clinical characteristics of two families with generalizedepilepsy with febrile seizures plus (GEFS⁺).

Through collection and diagnosis of two GEFS⁺families, the comprehensive pedigree and detailed clinical data were established. Its clinical data and relational references were analyzed by authors.

There are 53 people in the two families in all, including 11 patients (7 male and 4 female). The patients' ages were from 10 months to 39 years, with onset ages from 6 months to 5 years. There are a broad spectrum of clinical phenotypes, such as febrile seizure (FS) in 6 cases, FS⁺ in 2 cases, FS⁺ and absence seizure in 1 case, FS⁺ and atonic seizure in 2affected persons. The attacks of 5 cases were well controlled by antiepileptic drugs. Nervous system examination and CT(or MRI) scans of all affected didn't detect any positive result.

GEFS⁺, which often occurs in childhood, is a kind of autosomal dominant genetic epileptic syndrome. FS and FS⁺are its major clinical phenotypes. Generalized epilepsy seizure is mostly simultaneous in the FS⁺ patients. Family history investigation will be great help to its diagnosis.