Genetics of Juvenile Myoclonic Epilepsy: Causal Variants of GABAA and Trak 1 Mutations

A Dissertation Paper: Genetics of Juvenile Myoclonic Epilepsy


Juvenile Myoclonic Epilepsy, JME, is one of the most studied forms of epilepsy, and is one of the members of the idiopathic generalized epilepsies, the IGEs. In fact, the idiopathic generalized epilepsies are a group or class of seizure disorders whose origins have been linked to a number of suspected genetic anomalies. A number of studies relying on this form of identification have developed the modern concept and knowledge that the occurrence of JME is normally a result of mutations in three main gene loci. These gene mutations occur in the GABRA1 gene that encodes one subunit of the GABAA receptor protein. In this paper, a detailed review of literature has been reviewed with an aim of finding out important information relating to JME. In particular, the paper will use the information from the review to support the argument that variants in Trak1 and GABRA1 mutations are the prime origins of JME, among other several IGEs.

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