遗传性癫痫伴热性惊厥附加症的遗传学研究进展  

Research progress in genetic studies of genetic epilepsy with febrile seizures plus

作　　者：方志旭 蒋莉[1] Fang Zhixu;Jiang Li(Department of Neurology, Children＇s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China)

机构地区：[1]重庆医科大学附属儿童医院神经内科,儿童发育疾病研究教育部重点实验室,儿童发育重大疾病国家国际科技合作基地,儿科学重庆市重点实验室,400014

出　　处：《中华实用儿科临床杂志》2018年第12期949-953,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：遗传性癫痫伴热性惊厥附加症（GEFS＋）是一种遗传相关性癫痫综合征，其具有表型异质性及遗传异质性的特点。越来越多的遗传学研究表明，多种致病基因的突变参与GEFS＋的发病，但其发病及遗传学机制尚不完全清楚，且多数家系无法找到致病基因。随着遗传学技术的不断提高，将有助于解释GEFS＋的发病机制，并对其诊断及精准治疗提供新的依据。现就GEFS＋的临床表现、遗传学研究进展、诊断、治疗等方面进行阐述，旨在提高对本病的认识。Genetic epilepsy with febrile seizures plus（GEFS＋ ） is a genetically related epilepsy syndrome, characterized by a distinctive pattern of phenotypic heterogeneity and genetic heterogeneity.An increasing number of studies illustrate that a variety of pathogenic variations participate in the pathogenesis of GEFS＋ , but the pathogenesis and genetic mechanisms are not fully understood, and most families can not find pathogenic genes.With the improvement of genetic techniques, the pathogenesis of GEFS＋ will be better explained and a new basis will be provided for its diagnosis and precision treatment.This article discusses the clinical manifestation, genetic research, diagnosis and treatment of GEFS＋ , aiming at raising awareness of the disease.

关 键 词：遗传性癫痫伴热性惊厥附加症 遗传学 临床表现 诊断 治疗 

分 类 号：R742.1[医药卫生—神经病学与精神病学]