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

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Staub,  Eike
Max Planck Society;

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Ayerdi-Izquierdo, A., Stavrides, G., Sellés-Martínez, J., Larrea, L., Bovo, G., López de Munain, A., et al. (2006). Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy. Epilepsy Research, 70(2-3), 118-126. doi:10.1016/j.eplepsyres.2006.03.008.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-83CE-7
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.