Morante-Redolat José M, Gorostidi-Pagola Ana, Piquer-Sirerol Salomé, Sáenz Amets, Poza Juan J, Galán Juan, Gesk Stefan, Sarafidou Theologia, Mautner Victor-F, Binelli Simona, Staub Eike, Hinzmann Bernd, French Lisa, Prud'homme Jean-F, Passarelli Daniela, Scannapieco Paolo, Tassinari Carlo A, Avanzini Giuliano, Martí-Massó José F, Kluwe Lan, Deloukas Panagiotis, Moschonas Nicholas K, Michelucci Roberto, Siebert Reiner, Nobile Carlo, Pérez-Tur Jordi, López de Munain Adolfo
Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, Jaume Roig 11, E-46010 València, Spain.
Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119.
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.
