Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. Academic Article uri icon

Overview

abstract

  • Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGE) that account for about 5-10% of all types of epilepsies. The first putative locus termed EJM1 is on the human leucocyte antigen (HLA-II) region of chromosome 6p21.3. Interestingly, the EJM1 region includes the Transporter associated with antigen processing 1 (TAP-1) gene encoding the TAP-1, and previous studies have reported associations between HLA-II polymorphisms and different types of epilepsy. In this study, we report an association between two TAP-1 functional polymorphisms the I333V and the D637G and most common IGE in Tunisian population, but we fail to find significant results in Caucasian with JME.

publication date

  • February 5, 2010

Research

keywords

  • ATP-Binding Cassette Transporters
  • Epilepsy
  • Myoclonic Epilepsy, Juvenile
  • Polymorphism, Genetic

Identity

Scopus Document Identifier

  • 77953550278

Digital Object Identifier (DOI)

  • 10.1111/j.1744-313X.2010.00900.x

PubMed ID

  • 20141545

Additional Document Info

volume

  • 37

issue

  • 2