Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3053279 | Epilepsy Research | 2006 | 9 Pages |
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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Authors
A. Ayerdi-Izquierdo, G. Stavrides, J.J. Sellés-MartÃnez, L. Larrea, G. Bovo, A. López de Munain, F. Bisulli, J.F. MartÃ-Massó, R. Michelucci, J.J. Poza, P. Tinuper, U. Stephani, P. Striano, S. Striano, E. Staub, T. Sarafidou, B. Hinzmann,