Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

José M. Morante-Redolat, Ana Gorostidi-Pagola, Salomé Piquer-Sirerol, Amets Sáenz, Juan J. Poza, Juan Galán, Stefan Gesk, Theologia Sarafidou, Victor F. Mautner, Simona Binelli, Eike Staub, Bernd Hinzmann, Lisa French, Jean F. Prud'homme, Daniela Passarelli, Paolo Scannapieco, Carlo A. Tassinari, Giuliano Avanzini, José F. Martí-Massó, Lan KluwePanagiotis Deloukas, Nicholas K. Moschonas, Roberto Michelucci, Reiner Siebert, Carlo Nobile, Jordi Pérez-Tur, Adolfo López De Munain

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two families affected by this disorder. Both mutations introduce premature stop codons and thus prevent the production of the full-length protein from the affected allele. By immunohistochemical studies, we demonstrate that the LGI1 protein, which contains several leucine-rich repeats, is expressed ubiquitously in the neuronal cell compartment of the brain. Moreover, we provide evidence for genetic heterogeneity within this disorder, since several other families with a phenotype consistent with this type of epilepsy lack mutations in the LGI1 gene.

Original languageEnglish
Pages (from-to)1119-1128
Number of pages10
JournalHuman Molecular Genetics
Volume11
Issue number9
Publication statusPublished - May 1 2002

ASJC Scopus subject areas

  • Genetics

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