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目的探讨全面性癫癎伴热性惊厥附加症(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癎发作和癫癎综合征进行分类,然后进行临床分析。结果15个家系共196名成员,75例患有癫癎,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、FS+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。
Objective To investigate the clinical phenotypes and hereditary laws of total epilepsy with febrile seizures (GEFS +). Methods The first visit of 15 GEFS + family members was conducted a detailed interrogation and physical examination. A complete pedigree map was established. Some patients underwent EEG, CT or MRI examinations. According to the international classification, seizures and epilepsy syndromes For classification, and then for clinical analysis. Results There were 196 members in 15 families and 75 with epilepsy. Among them, 64 were phenotypically identical with GEFS + (one died). There were 38 males and 26 females. There was no significant gender difference (P> 0.05). The onset age of onset is in childhood. 44 cases showed febrile seizures (FS), FS with myoclonus in 1 case, febrile seizures (FS +) in 13 cases, FS + with absence of seizures in 2 cases, FS + with myoclonus in 1 case, FS + Focal seizures in 3 cases. Conclusions GEFS + has phenotypic heterogeneity and genetic heterogeneity. The common phenotypes are FS and FS +. The rare phenotypes are FS + with absence of seizures, FS + with myoclonus and FS + with focal seizures. GEFS + family of one parent illness, gender equality, consistent with autosomal dominant inheritance.