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

刘伟荣; 姚银萍; 蒋涛; 章杭湖; 胡佳妮; 邵晓丽

doi:10.16766/j.cnki.issn.1674-4152.001923

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

doi: 10.16766/j.cnki.issn.1674-4152.001923

绍兴市人民医院小儿内科，浙江绍兴 312000

基金项目:

浙江省医药卫生科技项目 2020KY327

详细信息

通讯作者:
邵晓丽，E-mail：jkezs89254@163.com

中图分类号: R742.1 R394
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出版历程
- 收稿日期: 2020-12-08
- 网络出版日期: 2022-02-16

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

Department of Pediatrics, Shaoxing People's Hospital, Shaoxing, Zhejiang 312000, China

摘要

摘要: 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。
- 癫痫 /
- 遗传性癫痫伴热性惊厥附加症 /
- 热性惊厥发作 /
- 家族遗传学
Abstract: 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.
- Epilepsy /
- Genetic epilepsy with febrile seizures plus /
- Febrile seizure /
- Familial genetics

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