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目的 探讨全身性癫癎伴热性惊厥附加症(generalized epilepsy with febrile seizures pIus,GEFS)的临床和遗传特点。方法对一个家系23例患者的临床资料进行回顾性分析。结果 男:女为1.56:1,患者起病年龄6个月至2.5岁。1例5岁和1例4岁的男孩现在仍有癫癎发作,有3例患者在20岁以后仍有发作,其余18例在10～12岁以后停止发作。发热时可出现癫癎发作,也有不发热时癫癎发作,发作形式多样,除外2例分别4岁和5岁男孩,其余21例患者不用抗癫癎药物能自行停止发作。家系分析显示本病呈常染色体显性遗传。结论 本组病例均于儿童时起病,病程持续时间长短不一,男性多于女性,遗传方式为常染色体显性遗传,21例患者已经自行停止发作,预后良好。
Objective To investigate the clinical and genetic characteristics of generalized epilepsy with febrile seizures pIus (GEFS). Methods The clinical data of 23 patients in one pedigree were retrospectively analyzed. Results Male: female 1.56: 1, patients with onset age 6 months to 2.5 years old. One 5-year-old boy and one 4-year-old boy were still suffering from epileptic seizures. Three patients had seizures after the age of 20 and the remaining 18 patients stopped seizures after the age of 10 to 12 years. There may be epileptic seizures during fever, epileptic seizures without fever, and various forms of seizures except 2 and 4 years of age, respectively, and 5-year-old boys. The remaining 21 patients stopped seizures without antiepileptic drugs. Pedigree analysis showed that the disease was autosomal dominant. CONCLUSIONS: All patients in this group had onset in childhood. The duration of the disease ranged from men to women. The genetic pattern was autosomal dominant. The 21 patients had stopped their seizures on their own and the prognosis was good.