Genetic analysis of the LGI/Epitempin gene family in sp... Epilepsy Research |
Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy Epilepsy Research, Volume 70, Issues 2-3, August 2006, Pages 118-126 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, et al. 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. Purchase PDF (167 K) |
No evidence for a seriously increased malignancy risk i... Epilepsy Research |
No evidence for a seriously increased malignancy risk in LGI1 Epilepsy Research, Volume 56, Issues 2-3, October 2003, Pages 205-208 Eylert Brodtkorb, Karl O. Nakken, Ortrud K. Steinlein Abstract The Leucine-rich Glioma Inactivated-1 (LGI1) gene is supposed to be a tumor suppressor gene involved in glial tumors. Mutations in this gene were recently found to cause autosomal dominant lateral temporal lobe epilepsy (ADLTE). We have now analysed the comorbidity in a large Norwegian ADLTE family. No evidence was found that LGI1 is a high-penetrance tumor suppressor gene associated with a serious risk for malignancies in ADLTE families. Purchase PDF (50 K) |
View More Related Articles |
Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins