遗传性癫痫伴热性惊厥附加症患儿临床资料及遗传特征分析

  目的  对遗传性癫痫伴热性惊厥附加症(GEFS+)患儿的流行病学、临床及家族遗传学进行调查和分析。  方法  选择绍兴市人民医院儿科1 435例癫痫(epilepsies)患儿分析GEFS+发病率、临床及流行病学, 并考察家族遗传特征。  结果  GEFS+患儿发病率为3.07%(44/1 435)；调查共获得29个家系、成员362名(除外44例患儿)，受累者占59.12%(214/362)。86.36%(38/44)的GEFS+患儿首次惊厥发作为发热性，其后为无热或低热性；22.90%(49/214)的家系受累成员首次惊厥发作为发热性，其后为无热性。GEFS+患儿头颅MRI检查颞叶异常占11.54%(3/26), 家系受累成员为12.63%(12/95)；患儿视频脑电图(VEEG)检查显示，23.08%(3/13)存在颞部放电，家系受累成员为20.0%(11/55)。全部家系成员中93.46%(200/214)为GEFS+，1.87%(4/214)为特发性全面性癫痫, 4.67%(10/214)不能明确分类；75.97%(196/258)为连续遗传, 44.57%(115/258)为父(母)-子的家系遗传, 21.71%(56/258)为隔代遗传, 10.47%(27/258)为双系遗传。  结论  部分GEFS+患儿即使经规范性治疗仍将发展为难治性癫痫，其家系受累成员中FS或FS+发病率较高, 主要以常染色体不完全显性遗传可能性大。 

Analysis of clinical data and genetic characteristics in children with genetic epilepsy with febrile seizures plus

  Objective  To investigate and analyse the epidemiology, clinical characteristics and family genetics of children with genetic epilepsy with febrile seizure plus (GEFS+).  Methods  A total of 1 435 children with epilepsy who were admitted to Shaoxing People's Hospital were selected. The incidence rate, epidemiology and clinical characteristics of GEFS+ and their family members were analysed.  Results  Among the 1 435 epileptic children, the incidence rate of GEFS+ was 3.07% (44/1 435). A total of 362 family members (excluding 44 GEFS+ affected children) were obtained from 29 families and family members, of whom 214 (59.12%) were affected. In 44 cases of GEFS+ children, 86.36% (38/44) of the first convulsive seizure occurred as febrile and followed by afebrile or low fever. Among the family members involved, 22.90% (49/214) of the first convulsions occurred as febrile; the later convulsions, without fever or with lower degree of fever. Head MRI examination was conducted in 44 cases of GEFS+, the incidence of temporal lobe abnormalities accounted for 11.54% (3/26)in the children with GEFS+ and for 12.63% (12/95) in the affected family members. Video EEG monitoring test (VEEG) examination was conducted in 44 cases of GEFS+, 23.08% (3/13) were with temporal discharge, and among the affected family members was 20.0% (11/55). Among all the family members, 93.46% (200/214) were GEFS+, 1.87% (4/214) were idiopathic generalised epilepsy and 4.67% (10/214) could not be classified clearly. In addition, 75.97% (196/258) were continuous inheritance, 44.57% (115/258) were paternal (mother) - child family inheritance, 21.71% (56/258) were intergenerational inheritance and 10.47% (27/258) were two line inheritance(maternal and paternal inheritance).  Conclusion  Some children with GEFS+ will develop into refractory epilepsy after clinical standard treatment. The incidence rate of FS or FS+ in family members is high, and the possibility of autosomal dominant inheritance is high.