Details

Autor(en) / Beteiligte

• 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.

Titel

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

Ist Teil von

• Epilepsy research, 2006-08, Vol.70 (2), p.118-126

Ort / Verlag

Amsterdam: Elsevier B.V

Erscheinungsjahr

2006

Link zum Volltext

Quelle

Elsevier ScienceDirect Journals Complete

Beschreibungen/Notizen

• 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.