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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: moschonas nk. Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119. Hum Mol Genet. 2002. PMID: 11978770
Dinucleotide repeat polymorphism at the GLUDP2 locus.
Goulielmos G, Manifava M, Moschonas NK. Goulielmos G, et al. Among authors: moschonas nk. Hum Mol Genet. 1993 Dec;2(12):2202. doi: 10.1093/hmg/2.12.2202. Hum Mol Genet. 1993. PMID: 8111403 No abstract available.
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: moschonas nk. Gene. 2002 Jan 9;282(1-2):87-94. doi: 10.1016/s0378-1119(01)00846-0. Gene. 2002. PMID: 11814680
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. Among authors: moschonas nk. Epilepsia. 2003 Oct;44(10):1289-97. doi: 10.1046/j.1528-1157.2003.20003.x. Epilepsia. 2003. PMID: 14510822 Free article.
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Sarafidou T, Kahl C, Martinez-Garay I, Mangelsdorf M, Gesk S, Baker E, Kokkinaki M, Talley P, Maltby EL, French L, Harder L, Hinzmann B, Nobile C, Richkind K, Finnis M, Deloukas P, Sutherland GR, Kutsche K, Moschonas NK, Siebert R, Gécz J; European Collaborative Consortium for the Study of ADLTE. Sarafidou T, et al. Among authors: moschonas nk. Genomics. 2004 Jul;84(1):69-81. doi: 10.1016/j.ygeno.2003.12.017. Genomics. 2004. PMID: 15203205
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. 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.
67 results