全面性癫癎伴热性惊厥附加症家系的临床分析  

Clinical analysis of families with generalized epilepsy with febrile seizures plus

作　　者：席妹景[1] 黄希顺[1] 魏建科[1] 郑红[2] 贾延劼[1] 常秀红[1] 张子英[1] 樊玉香[1] 高磊[1] 

机构地区：[1]郑州大学第一附属医院神经内科 [2]郑州大学医学院细胞生物学与医学遗传学教研室,河南郑州450052

出　　处：《中国当代儿科杂志》2007年第5期436-440,共5页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金资助项目(30370502)

摘　　要：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 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.

关 键 词：全面性癫痫伴热性惊厥附加症 家系 表型 临床分析 

分 类 号：R742.1[医药卫生—神经病学与精神病学]