中文摘要：

目的探讨全面性癫痫伴热性惊厥附加症（GEFS^＋）的临床表型及遗传规律。方法首先对15个GEFS^＋家系的先证者进行详细的问诊及体格检查，建立完善的家系图谱，部分患者行EEG、头颅CT或MRI检查，按照国际分类法对癫痫发作和癫痫综合征进行分类，然后进行临床分析。结果15个家系共196名成员，75例患有癫痫，其中64例表型与GEFS^＋一致（1例去世），男性38例，女性26例，性别差异无显著性（P〉0．05）。发作起始年龄均在儿童期。表现为热性惊厥（FS）者44例，FS伴肌阵挛1例，热性惊厥附加症（FS^＋）者13例，FS^＋伴失神发作2例，FS^＋伴肌阵挛1例，FS^＋伴局灶性发作3例。结论GEFS^＋具有表型异质性和遗传异质性，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、巧’伴局灶性发作等。GEFS’家系中父母一方患病，男女发病机率均等，符合常染色体显性遗传。

英文摘要：

Objective To investigate the clinical phenotypes and hereditary patterns of the generalized epilepsy with febrile seizures plus （ GEFS ^＋ ）. Methods Detailed family trees were constructed by inquire and physical examinations for the probands of the 15 pedigrees of GEFS^＋. Some patients received electroencephalography, cranial CT or MRI examination. The seizures and epilepsy syndromes were classified according to the 2001 Seizure International Classification. The clinical data of GEFS^＋ were reviewed. Results The 15 families consisted of 196 individuals. Seventyfive individuals were confirmed with epilepsy. The phenotypes of 64 out of the 75 patients with epilepsy conformed to GEFS ^＋. The 64 patients included 38 males and 26 females （ 1 deceased） and there was no gender difference in the morbility of GEFS^＋. The age at onset was all in childhood. GEFS^＋ had a diversity of phenotypes. Febrile seizures（FS） were confirmed in 44 patients, FS and myoclonic seizure in 1, febrile seizures plus （FS^＋ ）in 13, FS^＋ and absence seizure in 2, FS^＋ and myoclonic seizure in 1, and FS^＋ and focal seizure in 3. Conclusions The heterogeneity of phenotypes and genetics may be the hallmarks of GEFS^＋. FS and FS^＋ are common phenotypes while FS^＋ and absence seizure, FS^＋ and myoclonic seizure, and FS＋ and focal seizure are rare. If one of the parents is affected in a GEFS^＋ family, the susceptibility of their children to GEFS^＋ is the same no matter what gender of their children is. It is speculated that the hereditary pattern of GEFS^＋ conforms to autosomal dominant inheritance.