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

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy. / Ayerdi-Izquierdo, A.; Stavrides, G.; Sellés-Martínez, J. J.; Larrea, L.; Bovo, G.; Munain, A. López de; 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.; Deloukas, P.; Nobile, C.; Pérez-Tur, J.

In: Epilepsy Research, Vol. 70, No. 2-3, 08.2006, p. 118-126.

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

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

Ayerdi-Izquierdo, A. ; Stavrides, G. ; Sellés-Martínez, J. J. ; Larrea, L. ; Bovo, G. ; Munain, A. López de ; 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. ; Deloukas, P. ; Nobile, C. ; Pérez-Tur, J. / Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy. In: Epilepsy Research. 2006 ; Vol. 70, No. 2-3. pp. 118-126.

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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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AU - Siebert, R.

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AU - Nobile, C.

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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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