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

Journal: Epilepsy Research
Published:
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.

Authors
A Ayerdi Izquierdo, G Stavrides, J Sellés Martínez, L Larrea, G Bovo, A López De Munain, F Bisulli, J Martí Massó, R Michelucci, 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