16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Autor: Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, Silfhout, Anneke Vulto-van

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______805::e74c7afdb66a96703aaca984fd8659ca
http://doc.rero.ch/record/291490/files/ddu306.pdf

Epilepsy with grand mal on awakening and sleep-waking cycle

Autor: Janz, Dieter ^*

Publikováno v: In Clinical Neurophysiology 2000 111 Supplement 2:S103-S110

Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

Autor: Sander, Thomas ^*, Syagailo, Yana, Samochowiec, Jerzy, Okladnova, Olga, Lesch, Klaus-Peter, Janz, Dieter

Publikováno v: In Epilepsy Research 1999 36(1):61-67

Investigation of GRIN2A in common epilepsy phenotypes

Autor: Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli

Publikováno v: Epilepsy Research
Epilepsy Research, 115, 95. Elsevier
Epilepsy research
Lal, D, Steinbrücker, S, Schubert, J, Sander, T, Becker, F, Weber, Y, Lerche, H, Thiele, H, Krause, R, Lehesjoki, A-E, Nürnberg, P, Palotie, A, Neubauer, B A, Muhle, H, Stephani, U, Helbig, I, Becker, A J, Schoch, S, Hansen, J, Dorn, T, Hohl, C, Lüscher, N, von Spiczak, S, Lemke, J R, EPICURE Consortium, Møller, R S, Line Klitten, L & Hjalgrim, H 2015, ' Investigation of GRIN2A in common epilepsy phenotypes ', Epilepsy Research, vol. 115, pp. 95-99 . https://doi.org/10.1016/j.eplepsyres.2015.05.010

Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40230a95e916659f604965c70b8b6b8e
https://dspace.library.uu.nl/handle/1874/335854

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Autor: Leu, Costin, de Kovel, Carolien G F, Zara, Federico, Striano, Pasquale, Pezzella, Marianna, Robbiano, Angela, Bianchi, Amedeo, Bisulli, Francesca, Coppola, Antonietta, Giallonardo, Anna Teresa, Beccaria, Francesca, Trenité, Dorothée Kasteleijn-Nolst, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G, Becker, Felicitas, Lerche, Holger, Kleefuss-Lie, Ailing A, Hallman, Kerstin, Kunz, Wolfram S, Elger, Christian E, Muhle, Hiltrud, Stephani, Ulrich, Møller, Rikke S, Hjalgrim, Helle, Mullen, Saul, Scheffer, Ingrid E, Berkovic, Samuel F, Everett, Kate V, Gardiner, Mark R, Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Serratosa, Jose M, Rosenow, Felix, Feucht, Martha, Unterberger, Iris, Covanis, Athanasios, Suls, Arvid, Weckhuysen, Sarah, Kaneva, Radka, Caglayan, Hande, Turkdogan, Dilsad, Baykan, Betul

Publikováno v: Leu, C, de Kovel, C G F, Zara, F, Striano, P, Pezzella, M, Robbiano, A, Bianchi, A, Bisulli, F, Coppola, A, Giallonardo, A T, Beccaria, F, Trenité, D K-N, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Y G, Becker, F, Lerche, H, Kleefuss-Lie, A A, Hallman, K, Kunz, W S, Elger, C E, Muhle, H, Stephani, U, Møller, R S, Hjalgrim, H, Mullen, S, Scheffer, I E, Berkovic, S F, Everett, K V, Gardiner, M R, Marini, C, Guerrini, R, Lehesjoki, A-E, Siren, A, Nabbout, R, Baulac, S, Leguern, E, Serratosa, J M, Rosenow, F, Feucht, M, Unterberger, I, Covanis, A, Suls, A, Weckhuysen, S, Kaneva, R, Caglayan, H, Turkdogan, D, Baykan, B & EPICURE Consortium 2012, ' Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies ', Epilepsia, vol. 53, no. 2, pp. 308-318 . https://doi.org/10.1111/j.1528-1167.2011.03379.x

Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::ebe6d81bc13280125f07c577bc67a736
https://portal.findresearcher.sdu.dk/da/publications/8a0c0fe6-8b99-428b-a630-fa94af64e271