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309230.0 [No comment] 30.03.2007 13:46 Released

ID: 309230.0, MPI für molekulare Genetik / Department of Computational Molecular Biology
Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
Authors:Ayerdi-Izquierdo, A.; Stavrides, G.; Sellés-Martínez, J.J.; Larrea, L.; Bovo, G.; López de Munain, A.; Bisulli, F.; Martí-Massó, J. F.; Michelucci, R.; Poza, J. J.; Tinuper, P.; Stephani, U.; Striano, P.; Striano, S.; Staub, Eike; Sarafidou, T.; Hinzmann, B.; Moschonas, N.; Siebert, R.; Deloukas, P.; Nobile, C.; Pérez-Tur, J.
Date of Publication (YYYY-MM-DD):2006-08-01
Title of Journal:Epilepsy Research
Journal Abbrev.:Epilepsy. Res.
Issue / Number:2-3
Start Page:118
End Page:126
Copyright:© 2006 Published by Elsevier B.V.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:Autosomal dominant lateral temporal epilepsy; Association studies; LGI gene family; LGI1; Familial epilepsy
Comment of the Author/Creator:Corresponding author. Tel.: +34 96 339 1755; fax: +34 96 339 3774.
External Publication Status:published
Document Type:Article
Communicated by:Martin Vingron
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Unitat de Genètica Molecular, Dept. de Genòmica i Proteòmica, Institut de Biomedicina de València - CSIC, Jaume Roig, 11. E46010 València, Spain;
2.Wellcome Trust Sanger Institute, Cambridge, UK;
3.Centre de Transfusions de la Comunitat Valenciana, València, Spain;
4.CNR-Istituto di Neuroscienze, Sezione di Padova, Padua, Italy;
5.Servicio de Neurología, Hospital Donostia, Donostia, Spain;
6.Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy;
7.Dipartimento di Neuroscienze, Divisione di Neurologia, Ospedale Bellaria, Bologna, Italy;
8.Department of Neuropediatrics, Kiel University Hospital, Kiel, Germany;
9.Dipartimento di Scienze Neurologiche, Università Federico II, Naples, Italy;
10.Department of Biology, University of Crete and Institute of Molecular Biology and Biotechnology, Heraklion, Greece;
11.Signature Diagnostics AG, Postdam, Germany;
12.Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
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