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Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.
Di Bonaventura C, Operto FF, Busolin G, Egeo G, D'Aniello A, Vitello L, Smaniotto G, Furlan S, Diani E, Michelucci R, Giallonardo AT, Coppola G, Nobile C. Di Bonaventura C, et al. Among authors: michelucci r. Epilepsia. 2011 Jul;52(7):1258-64. doi: 10.1111/j.1528-1167.2011.03071.x. Epub 2011 Apr 19. Epilepsia. 2011. PMID: 21504429 Free article.
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.
Nobile C, Hinzmann B, Scannapieco P, Siebert R, Zimbello R, Perez-Tur J, Sarafidou T, Moschonas NK, French L, Deloukas P, Ciccodicola A, Gesk S, Poza JJ, Lo Nigro C, Seri M, Schlegelberger B, Rosenthal A, Valle G, Lopez de Munain A, Tassinari CA, Michelucci R. Nobile C, et al. Among authors: michelucci r. Gene. 2002 Jan 9;282(1-2):87-94. doi: 10.1016/s0378-1119(01)00846-0. Gene. 2002. PMID: 11814680
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Sáenz A, Poza JJ, Galán J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Martí-Massó JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Pérez-Tur J, López de Munain A. Morante-Redolat JM, et al. Among authors: michelucci r. Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119. Hum Mol Genet. 2002. PMID: 11978770
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.
Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D'Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, Valle G, Mautner VF, Stephani U, Tassinari CA, Moschonas NK, Siebert R, Lopez de Munain A, Perez-Tur J, Nobile C. Michelucci R, et al. Epilepsia. 2003 Oct;44(10):1289-97. doi: 10.1046/j.1528-1157.2003.20003.x. Epilepsia. 2003. PMID: 14510822 Free article.
Telephone-induced seizures: a new type of reflex epilepsy.
Michelucci R, Gardella E, de Haan GJ, Bisulli F, Zaniboni A, Cantalupo G, Alberto Tassinari C, Tinuper P, Nobile C, Nichelli P, Kasteleijn-Nolst Trenité DG. Michelucci R, et al. Epilepsia. 2004 Mar;45(3):280-3. doi: 10.1111/j.0013-9580.2004.39703.x. Epilepsia. 2004. PMID: 15009231 Free article.
Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.
Ayerdi-Izquierdo A, Stavrides G, Sellés-Martínez JJ, Larrea L, Bovo G, López de Munain A, Bisulli F, Martí-Massó JF, Michelucci R, Poza JJ, Tinuper P, Stephani U, Striano P, Striano S, Staub E, Sarafidou T, Hinzmann B, Moschonas N, Siebert R, Deloukas P, Nobile C, Pérez-Tur J. Ayerdi-Izquierdo A, et al. Among authors: michelucci r. Epilepsy Res. 2006 Aug;70(2-3):118-26. doi: 10.1016/j.eplepsyres.2006.03.008. Epub 2006 May 16. Epilepsy Res. 2006. PMID: 16707245 Free article.
215 results