Studies of Epileptic Encephalopathies with GABRB3 variant

Abstract

Epilepsy has been accounting for a significant proportion of human population. Estimated 50 millions people or 4 out of 1000 population have been affected by the epilepsy. As one of the categories of epilepsy, Epileptic Encephalopathy has been affecting a certain portion of people, especially among children, from infant to the age of 16. It contributes to severe cognitive and behavioral impairments. In recent studies on the genetic cause of the epileptic encephalopathy, scientists have found the association with GABRB3 gene. This review article is going to introduce an overview of the properties and function of the GABRB3 gene, including the receptor it is located in. Then this article will introduce different types of epileptic encephalopathy, including dravet syndrome, west syndrome, Lennox-gastaut syndrome, and myoclonic astatic epilepsy. And then summarize recent research and studies of patients with different types of epileptic encephalopathy, including the conditions of seizure onset, types of seizure appeared, position of mutation, and the type of mutation.