Genetic progress of childhood absence epilepsy / 上海交通大学学报（医学版）

ABSTRACT

Childhood absence epilepsy (CAE) is an important kind of epileptic syndrome of genetic generalized epilepsies (GGEs) with prevalence of 5.8/100 000-7.1/100 000. The genetic mechanism of CAE is always the hotspot of research. Susceptibility genes including calcium channel and γ-aminobutyric acid receptor as well as copy number variations (CNVs) have been found. However, those mechanisms cannot explain all the situations since the genetic content of CAE is rather complicated. Nowadays, with new susceptibility genes and genetic mechanisms coming to light, researchers are supposed to study this problem from the point of associated epileptic syndromes. In this review, the genetic features, probable mechanisms of CAE and therapeutic drugs were summarized.