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Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

AuthorsAyerdi Izquierdo, Ana; Stavrides, G.; Sellés-Martínez, J. J.; Larrea, L.; Bovo, G.; López de Munain, Adolfo; Bisulli, F.; Martí-Massó, J. F.; Michelucci, Roberto; Poza, J. J.; Tinuper, P.; Stephani, U.; Striano, P.; Staub, E.; Sarafidou, T.; Hinzmann, B.; Moschonas, N.; Siebert, R.; Deloukas, P.; Nobile, C.; Pérez-Tur, Jordi
KeywordsAutosomal dominant lateral temporal epilepsy
Association studies
LGI gene family
Familial epilepsy
Issue Date16-May-2006
CitationEpilepsy Res. 70 (2-3):118-126
AbstractMutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal lobe epilepsy (ADLTE), a partial epilepsy characterized by the presence of auditory seizures. However, not all the pedigrees with a phenotype consistent with ADLTE show mutations in LGI1/Epitempin, or evidence for linkage to the 10q24 locus. Other authors as well as ourselves have found an internal repeat (EPTP, pfam# PF03736) that allowed the identification of three other genes sharing a sequence and structural similarity with LGI1/Epitempin. In this work, we present the sequencing of these genes in a set of ADLTE families without mutations in both LGI1/Epitempin and sporadic cases. No analyzed polymorphisms modified susceptibility in either the familial or sporadic forms of this partial epilepsy.
DescriptionThe definitive version is available at http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T34-4JYTRWV-1&_user=4221266&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000048559&_version=1&_urlVersion=0&_userid=4221266&md5=efd2685823995c3ad94101782def140b
Publisher version (URL)http://dx.doi.org/10.1016/j.eplepsyres.2006.03.008
Appears in Collections:(IBV) Artículos
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