1.
Chinese Journal of Applied Clinical Pediatrics
; (24): 949-953, 2018.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-696533
RESUMO
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.