Research progress in genetic studies of genetic epilepsy with febrile seizures plus / 中华实用儿科临床杂志

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.