Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

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• 作者：Erica Diani ; Carlo Di Bonaventura ; Oriano Mecarelli ; Antonio Gambardella ; Maurizio Elia ; Giorgia Bovo ; Francesca Bisulli ; Federica Pinardi ; Simona Binelli ; Gabriella Egeo ; Barbara Castellotti ; Pasqual
• 关键词：Autosomal dominant lateral temporal epilepsy ; Genetics ; LGI1 ; Kv1 channel ; ADAM22 receptor ; Association studies
• 刊名：Epilepsy Research
• 出版年：2008
• 期刊代码：87_09201211
• 类别：med
• 出版时间：July 2008
• 卷：80
• 期：1
• 页码：1-8
• 文件大小：356 K

摘要

We have therefore sequenced all coding exons and exon–intron flanking sites in the ADAM22 gene in the probands of 18 ADLTE families negative for LGI1 mutations. Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome.div>div>
direct.com/science?_ob=MImg&_imagekey=B6T34-4PC4KRB-1-7&_cdi=4936&_user=10&_orig=article&_coverDate=08%2F31%2F2007&_sk=999239998&view=c&wchp=dGLzVlz-zSkWb&md5=8e0306dbc0ed114fdb512a6e48ddbf75&ie=/sdarticle.pdf">direct.com/scidirimg/icon_pdf.gif" alt=""> Purchase PDF (640 K)div>div><div class="infobubble-container"><div class="mlktLink" id="mlktLink_2">ding=0 cellspacing=0 border=0>div>

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di=B6T34-4JYTRWV-1&_user=10&_origUdi=B6T34-4SCTN11-1&_fmt=high&_coverDate=08%2F31%2F2006&_rdoc=1&_orig=article&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=b84f8cbe2db0590fd71c93b5a3a2f243" onMouseOver="InfoBubble.show('infobubble_2','mlktLink_2')" onMouseOut="InfoBubble.timeout()">Genetic analysis of the LGI/Epitempin gene family in sp... Epilepsy Research

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<div style="float:right; padding-left:5px">dirimg/btn_xclose.gif" alt="Close" title="Close" onmouseover="javascript:this.src='/scidirimg/btn_xclose_hov.gif';" onmouseout="javascript:this.src='/scidirimg/btn_xclose.gif';">div>dirimg/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"> direct.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 epilepsy Epilepsy 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. López de Munain, F. Bisulli, J.F. Martí-Massó, 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 <div class="mlktScroll"><div style="line-height:150%">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.div>div> direct.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">direct.com/scidirimg/icon_pdf.gif" alt=""> Purchase PDF (167 K)

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di=B6T34-4B0PDC4-4&_user=10&_origUdi=B6T34-4SCTN11-1&_fmt=high&_coverDate=10%2F31%2F2003&_rdoc=1&_orig=article&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=466bd375e70425a3df278ced469fa15b" onMouseOver="InfoBubble.show('infobubble_3','mlktLink_3')" onMouseOut="InfoBubble.timeout()">No evidence for a seriously increased malignancy risk i... Epilepsy Research

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<div style="float:right; padding-left:5px">dirimg/btn_xclose.gif" alt="Close" title="Close" onmouseover="javascript:this.src='/scidirimg/btn_xclose_hov.gif';" onmouseout="javascript:this.src='/scidirimg/btn_xclose.gif';">div>dirimg/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"> direct.com/science?_ob=ArticleURL&_udi=B6T34-4B0PDC4-4&_user=10&_coverDate=10%2F31%2F2003&_rdoc=1&_fmt=high&_orig=article&_cdi=4936&_sort=v&_docanchor=&view=c&_ct=19&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=93faca613b83514b7cebebda4fa9888a">No evidence for a seriously increased malignancy risk in LGI1-caused epilepsy Epilepsy Research, Volume 56, Issues 2-3, October 2003, Pages 205-208 Eylert Brodtkorb, Karl O. Nakken, Ortrud K. Steinlein Abstract <div class="mlktScroll"><div style="line-height:150%">The Leucine-rich Glioma Inactivated-1 (LGI1) gene is supposed to be a tumor suppressor gene involved in glial tumors. Mutations in this gene were recently found to cause autosomal dominant lateral temporal lobe epilepsy (ADLTE). We have now analysed the comorbidity in a large Norwegian ADLTE family. No evidence was found that LGI1 is a high-penetrance tumor suppressor gene associated with a serious risk for malignancies in ADLTE families.div>div> direct.com/science?_ob=MImg&_imagekey=B6T34-4B0PDC4-4-1&_cdi=4936&_user=10&_orig=article&_coverDate=10%2F31%2F2003&_sk=999439997&view=c&wchp=dGLzVlz-zSkWb&md5=2707dca529a663b505e05d164a127746&ie=/sdarticle.pdf">direct.com/scidirimg/icon_pdf.gif" alt=""> Purchase PDF (50 K)

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Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins