中国10个全面性癫痫伴热性惊厥附加症家系的临床特征分析

Clinical characteristics of ten pedigrees with generalized epilepsy with febrile seizures plus in China

目的探讨中国全面性癫痫伴热性惊厥附加症(generalized epilepsy with febrile seizure plus,GEFS+)家系的临床特征。方法通过门诊就诊、个人访视、电话等方式,对10个GEFS+家系所有成员进行详细临床资料收集,包括家系图谱、有无发作、发作形式以及检查结果等。结果10个家系共有140名成员接受了调查(其中3名去世,由亲属提供病史),发现受累者80例,其中74例符合GEFS+临床发作谱,2例为特发性全面性癫痫,4例不能明确分类。其中有两个家系较为特殊(家系I和家系H),2个家系受累者绝大部分仅表现为热性惊厥(febrile seizure,FS),每个家系仅有先症者1人表现为热性惊厥附加症(febrile seizure plus,FS+)。此外还发现3例FS+伴局灶性发作,2例为FS+伴儿童良性癫痫伴中央颞部棘波,1例为FS+伴颞叶癫痫。结论GEFS+是一种常见的、儿童时期起病的遗传性癫痫综合征,GEFS+最常见的表型为FS和FS+,其次是FS+伴局灶性发作、FS伴IGE、FS+伴失神发作以及FS+伴肌阵挛发作,我们的10个GEFS+家系中未发现FS+伴失张力发作、肌阵挛站立不能性癫痫和婴儿严重肌阵挛癫痫,说明这些表型为临床少见表型;此外我们还发现了GEFS+合并IGE以及在FS遗传背景上仅个别患者为FS+的较特殊家系,这些将进一步扩展GEFS+的概念。

Objective To describe the clinical characteristics of ten China families with generalized epilepsy with febrile seizure plus(GEFS+). Methods The detailed clinical data of all members of ten GEFS+were investigated by visiting clinic service,individual interview,telephone call. These data include the family pedigree,seizure or no,types of seizures,result of examination,and so on. Results 140 members of ten families were investigated and 80 persons are affected individual,which 74 patients met the criterion of...