目的 探讨全面性癫(痫)伴热性惊厥附加症( GEFS+)的临床和遗传学特点.方法 回顾性分析9个GEFS+家系的临床资料.结果 本组9例先证者中男7例,女2例；起病年龄1～3岁；发作类型均为全面性强直-阵挛发作(GTCS).其中,1例为GTCS,4例为热性惊厥(FS),4例为热性惊厥附加症(FS+).脑电图检查示6例有典型(痫)样波,1例有θ波,2例无异常.9个GEFS+家系184人中共有患者45例,男32例,女13例；男性发病比率(34.4％)明显高于女性发病比率(14.3％)(P＜0.05).其中,2例为GTCS,39例为FS,4例为FS+.家系系谱图分析显示,17例患者(37.8％)父母一方或双方患病,符合常染色体显性遗传；28例患者(62.2％)父母不发病或发病情况不详,但其近亲中至少有2例或以上患者.结论 GEFS+的脑电图不一定有异常波.GEFS+具有遗传异质性,本组中男性显著多于女性,不完全符合常染色体显性遗传.%Objective To investigate the clinical and hereditary features of generalized epilepsy with febrile seizures plus (GEFS + ). Methods The clinical deta of 9 GEFS + families were retrospectively analyzed. Results In 9 probands of this group, there were 7 male and 2 female, and their onset ages were 1-3 years old; their seizure types were all generalized tonic-clonic seizure ( GTCS). In which, there were 1 case of GTCS, 4 cases of febrile seizures (FS) and 4 cases of febrile seizures plus (FS+ ). Electroencephalogram showed that 6 cases with typical epileptiform wave, 1 case with 8 wave and 2 cases without abnormal. In 184 persons of 9 GEFS+ families, there were 45 patients, 32 male and 13 female, and the onset rate of male (34.4% ) was significantly higher than that of femal (14.3% ) (P<0.05). In which, there were 2 cases of GTCS, 39 cases of FS and 4 cases of FS The genetic analysis showed that 17 cases (37. 8% ) with one or both parents suffered, which was conform to the autosomal dominant inheritance; and 28 cases (62.2% ) with parents not suffered or whether suffered or not unknown, which had at least 2 patients in their consanguinity. Conclusions Not all the electroencephalogram of GEFS+ are abnormal. GEFS+ is genetic heterogeneous. The male is significantly more than female in this group, and which does not fully meet with autosomal dominant inheritance.
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