Research progress in genetic studies of genetic epilepsy with febrile seizures plus
10.3760/cma.j.issn.2095-428X.2018.12.020
- VernacularTitle:遗传性癫痫伴热性惊厥附加症的遗传学研究进展
- Author:
Zhixu FANG
1
;
Li JIANG
Author Information
1. 400014 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
- Keywords:
Genetic epilepsy with febrile seizures plus;
Hereditary;
Clinical manifestation;
Diagnosis;
Treat-ment
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(12):949-953
- CountryChina
- Language:Chinese
-
Abstract:
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 improve-ment 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 treat-ment of GEFS+,aiming at raising awareness of the disease.
