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Human Molecular Genetics, 2002, Vol. 11, No. 9 1119-1128
© 2002 Oxford University Press

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

José M. Morante-Redolat1,{dagger}, Ana Gorostidi-Pagola1,2,{dagger}, Salomé Piquer-Sirerol1, Amets Sáenz2, Juan J. Poza2, Juan Galán3, Stefan Gesk4, Theologia Sarafidou5, Victor-F. Mautner6, Simona Binelli7, Eike Staub8, Bernd Hinzmann8, Lisa French9, Jean-F. Prud'homme10, Daniela Passarelli11, Paolo Scannapieco12, Carlo A. Tassinari13, Giuliano Avanzini8, José F. Martí-Massó2, Lan Kluwe14, Panagiotis Deloukas9, Nicholas K. Moschonas5, Roberto Michelucci13, Reiner Siebert4, Carlo Nobile15, Jordi Pérez-Tur1,* and Adolfo López de Munain2

1Unitat de Genètica Molecular, Institut de Biomedicina de València–CSIC, València, Spain, 2Unidad Experimental and Servicio de Neurología, Hospital Donostia, Donostia, Spain, 3Servicio de Neurología, Hospital Valme, Sevilla, Spain, 4Institute of Human Genetics, University Hospital Kiel, Kiel, Germany, 5Institute of Molecular Biology and Biotechnology, Foundation of Research and Technology, Heraklion, Greece, 6Laboratory of Brain Tumor Biology, Department of Neurosurgery, University of Hamburg, University Hospital Eppendorf, Hamburg, Germany, 7Istituto Nazionale Neurologico ‘Carlo Besta’, Milan, Italy, 8MetaGen Gesellschaft fur Genomforschung mbH, Berlin, Germany, 9The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK, 10Généthon, Evry, France, 11Division of Neurology, Infermi Hospital, Faenza, Italy, 12CRIBI Biotechnology Centre, University of Padua, Padova, Italy, 13Department of Neurological Sciences, Division of Neurology, Bellaria Hospital and University of Bologna, Bologna, Italy, 14Department of Neurology, Klinikum Nord Oschenzoll, Hamburg, Germany and 15CNR–Centro di Studio per la Biologia e Fisiopatologia Muscolare, Dipartimento di Scienze Biomediche Sperimentali, Padova, Italy

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.

* To whom correspondence should be addressed at: Unitat de Genètica Molecular, Institut de Biomedicina de València–CSIC, Jaume Roig 11, E-46010 València, Spain. Fax: +34 96 369 0800; Email: jpereztur{at}ibv.csic.es

{dagger} The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.

{ddagger} AF055636 (LGI1/Epitempin), AF473548 (splice form of LGI1/Epitempin) and AB067503 (KIAA1916)


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