全面性癫痫伴热性惊厥附加症家系的临床分析

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。［中国当代儿科杂志，2007，9（5）：436-440］

Clinical analysis of families with generalized epilepsy with febrile seizures plus

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. Seventy-five 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.