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Dimorphism of TAP‐1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies
Author(s) -
Layouni S.,
Chouchane L.,
Malafosse A.,
Dogui M.
Publication year - 2010
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2010.00900.x
Subject(s) - idiopathic generalized epilepsy , juvenile myoclonic epilepsy , locus (genetics) , epilepsy , human leukocyte antigen , genetics , transporter associated with antigen processing , biology , gene , allele , juvenile , sexual dimorphism , population , medicine , neuroscience , antigen , major histocompatibility complex , endocrinology , environmental health , mhc class i
Summary 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.

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