float:right; padding-left:5px"">foBubble.hide()"">mg src=""/scidirimg/btn_xclose.gif"" alt=""Close"" title=""Close"" onmouseover=""javascript:this.src='/scidirimg/btn_xclose_hov.gif';"" onmouseout=""javascript:this.src='/scidirimg/btn_xclose.gif';""> mg border=0 src=""/scidirimg/jrn_nsub.gif"" alt=""You are not entitled to access the full text of this document"" title=""You are not entitled to access the full text of this document"" width=12 height=14""> f=""http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T34-4JYTRWV-1&_user=10&_coverDate=08 % 2F31 % 2F2006&_rdoc=1&_fmt=high&_orig=article&_cdi=4936&_sort=v&_docanchor=&view=c&_ct=19&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=a7854512d2c87c40467e5c7638ebfd52"">Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsyEpilepsy Research, Volume 70, Issues 2-3, August 2006, Pages 118-126 A. Ayerdi-Izquierdo, G. Stavrides, J.J. Sellés-Martínez, L. Larrea, G. Bovo, A. Lf3;pez de Munain, F. Bisulli, J.F. Martí-Massf3;, R. Michelucci, J.J. Poza, P. Tinuper, U. Stephani, P. Striano, S. Striano, E. Staub, T. Sarafidou, B. Hinzmann, N. Moschonas, R. Siebert, P. Deloukas, et al. Abstract mlktScroll""> Mutations 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. f=""http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T34-4JYTRWV-1-3&_cdi=4936&_user=10&_orig=article&_coverDate=08 % 2F31 % 2F2006&_sk=999299997&view=c&wchp=dGLzVlz-zSkWb&md5=8a1a874deb81bdd634031c503876a80a&ie=/sdarticle.pdf"">mg name=""pdf"" style=""vertical-align:absmiddle;"" border=""0"" src=""http://www.sciencedirect.com/scidirimg/icon_pdf.gif"" alt=""""> Purchase PDF (167 K) |
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Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins