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

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; C. Nobile; J. Pérez-Tur

doi:10.1016/j.eplepsyres.2006.03.008

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

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. DeloukasC. Nobile, J. Pérez-Tur

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	118-126
Number of pages	9
Journal	Epilepsy Research
Volume	70
Issue number	2-3
DOIs	https://doi.org/10.1016/j.eplepsyres.2006.03.008
Publication status	Published - Aug 2006

Keywords

Association studies
Autosomal dominant lateral temporal epilepsy
Familial epilepsy
LGI gene family
LGI1

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Neurology

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10.1016/j.eplepsyres.2006.03.008

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Ayerdi-Izquierdo, A., Stavrides, G., Sellés-Martínez, J. J., Larrea, L., Bovo, G., Munain, A. L. D., Bisulli, F., Martí-Massó, J. F., Michelucci, R., Poza, J. J., Tinuper, P., Stephani, U., Striano, P., Striano, S., Staub, E., Sarafidou, T., Hinzmann, B., Moschonas, N., Siebert, R., ... Pérez-Tur, J. (2006). Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy. Epilepsy Research, 70(2-3), 118-126. https://doi.org/10.1016/j.eplepsyres.2006.03.008

Ayerdi-Izquierdo, A, Stavrides, G, Sellés-Martínez, JJ, Larrea, L, Bovo, G, Munain, ALD, Bisulli, F, Martí-Massó, JF, Michelucci, R, Poza, JJ, Tinuper, P, Stephani, U, Striano, P, Striano, S, Staub, E, Sarafidou, T, Hinzmann, B, Moschonas, N, Siebert, R, Deloukas, P, Nobile, C & Pérez-Tur, J 2006, 'Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy', Epilepsy Research, vol. 70, no. 2-3, pp. 118-126. https://doi.org/10.1016/j.eplepsyres.2006.03.008

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title = "Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe 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.",

keywords = "Association studies, Autosomal dominant lateral temporal epilepsy, Familial epilepsy, LGI gene family, LGI1",

author = "A. Ayerdi-Izquierdo and G. Stavrides and Sell{\'e}s-Mart{\'i}nez, {J. J.} and L. Larrea and G. Bovo and Munain, {A. L{\'o}pez de} and F. Bisulli and Mart{\'i}-Mass{\'o}, {J. F.} and R. Michelucci and Poza, {J. J.} and P. Tinuper and U. Stephani and P. Striano and S. Striano and E. Staub and T. Sarafidou and B. Hinzmann and N. Moschonas and R. Siebert and P. Deloukas and C. Nobile and J. P{\'e}rez-Tur",

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AU - Ayerdi-Izquierdo, A.

AU - Stavrides, G.

AU - Sellés-Martínez, J. J.

AU - Larrea, L.

AU - Bovo, G.

AU - Munain, A. López de

AU - Bisulli, F.

AU - Martí-Massó, J. F.

AU - Michelucci, R.

AU - Poza, J. J.

AU - Tinuper, P.

AU - Stephani, U.

AU - Striano, P.

AU - Striano, S.

AU - Staub, E.

AU - Sarafidou, T.

AU - Hinzmann, B.

AU - Moschonas, N.

AU - Siebert, R.

AU - Deloukas, P.

AU - Nobile, C.

AU - Pérez-Tur, J.

PY - 2006/8

Y1 - 2006/8

N2 - 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.

AB - 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.

KW - Association studies

KW - Autosomal dominant lateral temporal epilepsy

KW - Familial epilepsy

KW - LGI gene family

KW - LGI1

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

Abstract

Keywords

ASJC Scopus subject areas

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