全面性癫癎伴热性惊厥附加症的临床和遗传学特点(附9家系报告)

Clinical and hereditary features of generalized epilepsy with febrile seizures plus(report of 9 families)

目的探讨全面性癫癎伴热性惊厥附加症（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例有典型疒间样波,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 θ 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%）（P0.05）.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.