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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium; EMINet Consortium; Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949513
Genome search for susceptibility loci of common idiopathic generalised epilepsies.
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenité DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A. Sander T, et al. Hum Mol Genet. 2000 Jun 12;9(10):1465-72. doi: 10.1093/hmg/9.10.1465. Hum Mol Genet. 2000. PMID: 10888596
Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.
de Kovel CG, Pinto D, Tauer U, Lorenz S, Muhle H, Leu C, Neubauer BA, Hempelmann A, Callenbach PM, Scheffer IE, Berkovic SF, Rudolf G, Striano P, Siren A, Baykan B, Sander T, Lindhout D, Kasteleijn-Nolst Trenité DG, Stephani U, Koeleman BP. de Kovel CG, et al. Epilepsy Res. 2010 May;89(2-3):286-94. doi: 10.1016/j.eplepsyres.2010.01.013. Epub 2010 Feb 12. Epilepsy Res. 2010. PMID: 20153606
Clinical aspects of juvenile myoclonic epilepsy.
Genton P, Thomas P, Kasteleijn-Nolst Trenité DG, Medina MT, Salas-Puig J. Genton P, et al. Epilepsy Behav. 2013 Jul;28 Suppl 1:S8-14. doi: 10.1016/j.yebeh.2012.10.034. Epilepsy Behav. 2013. PMID: 23756488 Review.
Consensus on diagnosis and management of JME: From founder's observations to current trends.
Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Martínez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P. Kasteleijn-Nolst Trenité DG, et al. Epilepsy Behav. 2013 Jul;28 Suppl 1:S87-90. doi: 10.1016/j.yebeh.2012.11.051. Epilepsy Behav. 2013. PMID: 23756490
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
121 results