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

Ayerdi-Izquierdo, A., Stavrides, G., Sellés-Martínez, J., Larrea, L., Bovo, G., López de Munain, A., et al. (2006). Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy. Epilepsy Research, 70(2-3), 118-126. doi:10.1016/j.eplepsyres.2006.03.008.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-83CE-7 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-83CF-5
Genre: Journal Article
Alternative Title : Epilepsy. Res.

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Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
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 Creators:
Ayerdi-Izquierdo, A., Author
Stavrides, G., Author
Sellés-Martínez, J.J., Author
Larrea, L., Author
Bovo, G., Author
López de Munain, A., Author
Bisulli, F., Author
Martí-Massó, J. F., Author
Michelucci, R., Author
Poza, J. J., Author
Tinuper, P., Author
Stephani, U., Author
Striano, P., Author
Striano, S., Author
Staub, Eike1, Author
Sarafidou, T., Author
Hinzmann, B., Author
Moschonas, N., Author
Siebert, R., Author
Deloukas, P., Author
Nobile, C., AuthorPérez-Tur, J., Author more..
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Autosomal dominant lateral temporal epilepsy; Association studies; LGI gene family; LGI1; Familial epilepsy
 Abstract: 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.

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Language(s): eng - English
 Dates: 2006-08-01
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 309230
DOI: 10.1016/j.eplepsyres.2006.03.008
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Title: Epilepsy Research
  Alternative Title : Epilepsy. Res.
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 70 (2-3) Sequence Number: - Start / End Page: 118 - 126 Identifier: ISSN: 0920-1211