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

Ayerdi Izquierdo, Ana; Stavrides, G.; Sellés-Martínez, J. J.; Larrea, Luis; 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

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

The 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=efd2685823995c3ad94101...

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Detalles Bibliográficos
Autores:	Ayerdi Izquierdo, Ana, Stavrides, G., Sellés-Martínez, J. J., Larrea, Luis, 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
Tipo de recurso:	artículo
Fecha de publicación:	2006
País:	España
Institución:	Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:	DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:	oai:digital.csic.es:10261/8950
Acceso en línea:	http://hdl.handle.net/10261/8950
Access Level:	acceso abierto
Palabra clave:	Autosomal dominant lateral temporal epilepsy Association studies LGI gene family LGI1 Familial epilepsy

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spelling	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsyAyerdi Izquierdo, AnaStavrides, G.Sellés-Martínez, J. J.Larrea, LuisBovo, G.López de Munain, AdolfoBisulli, F.Martí-Massó, J. F.Michelucci, RobertoPoza, J. J.Tinuper, P.Stephani, U.Striano, P.Staub, E.Sarafidou, T.Hinzmann, B.Moschonas, N.Siebert, R.Deloukas, P.Nobile, C.Pérez-Tur, JordiAutosomal dominant lateral temporal epilepsyAssociation studiesLGI gene familyLGI1Familial epilepsyThe 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=efd2685823995c3ad94101782def140bMutations 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.This work is funded by a grant from the Ministerio de Educación y Ciencia (SAF2002-00060) to JP-T, from the Ilundain Fundazioa to ALdM, JJP and JFMM, from Telethon-Italy (GGP02339) to CN and RM, and from the Commissione Genetica, Lega Italiana Contro l’Epilessia (LICE) to RM and CN. JP-T and CN are recipients of a collaborative CSIC-CNR grant (2003IT0018). JP-T is part of the Grupos de Excelencia of the Generalitat Valenciana (GRUPOS03/015).Peer reviewedElsevier200820082006info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501321040 bytesapplication/pdfhttp://hdl.handle.net/10261/8950reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.1016/j.eplepsyres.2006.03.008info:eu-repo/semantics/openAccessoai:digital.csic.es:10261/89502026-05-22T06:33:51Z
dc.title.none.fl_str_mv	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
title	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
spellingShingle	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy Ayerdi Izquierdo, Ana Autosomal dominant lateral temporal epilepsy Association studies LGI gene family LGI1 Familial epilepsy
title_short	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
title_full	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
title_fullStr	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
title_full_unstemmed	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
title_sort	Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy
dc.creator.none.fl_str_mv	Ayerdi Izquierdo, Ana Stavrides, G. Sellés-Martínez, J. J. Larrea, Luis 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
author	Ayerdi Izquierdo, Ana
author_facet	Ayerdi Izquierdo, Ana Stavrides, G. Sellés-Martínez, J. J. Larrea, Luis 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
author_role	author
author2	Stavrides, G. Sellés-Martínez, J. J. Larrea, Luis 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
author2_role	author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Autosomal dominant lateral temporal epilepsy Association studies LGI gene family LGI1 Familial epilepsy
topic	Autosomal dominant lateral temporal epilepsy Association studies LGI gene family LGI1 Familial epilepsy
description	The 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
publishDate	2006
dc.date.none.fl_str_mv	2006 2008 2008
dc.type.none.fl_str_mv	info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501
format	article
dc.identifier.none.fl_str_mv	http://hdl.handle.net/10261/8950
url	http://hdl.handle.net/10261/8950
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	http://dx.doi.org/10.1016/j.eplepsyres.2006.03.008
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	321040 bytes application/pdf
dc.publisher.none.fl_str_mv	Elsevier
publisher.none.fl_str_mv	Elsevier
dc.source.none.fl_str_mv	reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str	Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str	DIGITAL.CSIC. Repositorio Institucional del CSIC
collection	DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

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