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.
Original language | English |
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Pages (from-to) | 118-126 |
Number of pages | 9 |
Journal | Epilepsy Research |
Volume | 70 |
Issue number | 2-3 |
DOIs | |
Publication status | Published - Aug 2006 |
Keywords
- Association studies
- Autosomal dominant lateral temporal epilepsy
- Familial epilepsy
- LGI gene family
- LGI1
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Neurology