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 journalArticlepeer-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 languageEnglish
Pages (from-to)118-126
Number of pages9
JournalEpilepsy Research
Volume70
Issue number2-3
DOIs
Publication statusPublished - 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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