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

@article{AyerdiIzquierdo2006GeneticAO,
  title={Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.},
  author={Ana Ayerdi-Izquierdo and George Stavrides and J J Sell{\'e}s-Mart{\'i}nez and Luis Garcia Larrea and Giorgia Bovo and Adolfo L{\'o}pez de Mun{\'a}in and Francesca Bisulli and Jose F. Marti-Masso and Roberto Michelucci and Juan Jos{\'e} Poza and Paolo Tinuper and Ulrich Stephani and Pasquale Striano and Salvatore Striano and Eike Staub and Theologia Sarafidou and Bernd Hinzmann and Nicholas K. Moschonas and Reiner Siebert and Panagiotis Deloukas and Carlo Nobile and Jordi P{\'e}rez-Tur},
  journal={Epilepsy research},
  year={2006},
  volume={70 2-3},
  pages={118-26}
}
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… CONTINUE READING