›› 2017, Vol. 35 ›› Issue (11): 864-.doi: 10.3969/j.issn.1000-3606.2017.11.016

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Genetic studies in early infantile epileptic encephalopathy

Reviewer: LI Ying,Reviser: SHU Xiaomei   

  1. Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi 563003, Guizhou,China
  • Received:2017-11-15 Online:2017-11-15 Published:2017-11-15

Abstract:  Early infantile epileptic encephalopathy is a group of disorders affecting children at early stages of infancy, which is characterized by frequent seizures, epileptiform activity on EEG, and developmental retardation or regression. As genetic testing methods advance, an increasing number of novel genetic causes have been uncovered, the genetic etiologies and physiopathologic mechanism of these epileptic syndromes are now better understood. The purpose of this article is to review the progresses in the field of genetic studies in some early infantile epileptic encephalopathies.