›› 2018, Vol. 38 ›› Issue (2): 221-.doi: 10.3969/j.issn.1674-8115.2018.02.020

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Genetic progress of childhood absence epilepsy

LIU Sa, GU Ming-min   

  1. Department of Medical Genetics, Shanghai Jiao Tong University College of Basic Medical Sciences, Shanghai 200025, China
  • Online:2018-02-28 Published:2018-03-09
  • Supported by:
    National Natural Science Foundation of China, 31571295

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.

Key words: childhood absence epilepsy, genetic generalized epilepsies, genetics, susceptibility gene, copy number variations