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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

by Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kälviäinen, Reetta, Kantanen, Anne-Mari, Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Møller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Nöthen, Markus M., Nürnberg, Peter, O’Brien, Terence J., Oliver, Karen L.
Published in Nature communications (10.12.2018)

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Monogenic variants in dystonia: an exome-wide sequencing study

by Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Vill, Katharina, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane
Published in Lancet neurology (01.11.2020)

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Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

by Trynka, Gosia, Stahl, Eli, Neale, Benjamin M., Farh, Kai-How, Pers, Tune H., Albus, Margot, Cahn, Wiepke, Cai, Guiqing, Carr, Vaughan J., Carrera, Noa, Cheng, Wei, Cheung, Eric F.C., Cohen, David, Cormican, Paul, Craddock, Nick, Demontis, Ditte, Djurovic, Srdjan, Donohoe, Gary, Dudbridge, Frank, Durmishi, Naser, Eriksson, Johan, Farrell, Martilias S., Freimer, Nelson B., Fromer, Menachem, Godard, Stephanie, Goldstein, Jacqueline I., Grove, Jakob, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hougaard, David M., Ikeda, Masashi, Julià, Antonio, Kelly, Brian J., Kennedy, James L., Kucinskas, Vaidutis, Kuzelova-Ptackova, Hana, Laurent, Claudine, Lee, S. Hong, Li, Tao, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lnnqvist, Jouko, Marsal, Sara, McCarley, Robert W., Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Milani, Lili, Mors, Ole, Myin-Germeys, Inez, Nikitina-Zake, Liene, O’Callaghan, Eadbhard, O’Dushlaine, Colm, O’Neill, F. Anthony, Oh, Sang-Yun, Pantelis, Christos, Parkhomenko, Elena, Perkins, Diana O., Powell, John, Quested, Digby, Salomaa, Veikko, Schubert, Christian R., Shi, Jianxin, Sigurdsson, Engilbert, Sim, Kang, Stogmann, Elisabeth, Strengman, Eric, Suvisaari, Jaana, Thirumalai, Srinivas, Veijola, Juha, Walsh, Dermot, Weiser, Mark, Witt, Stephanie H., Wong, Emily H.M., Wu, Jing Qin, Stefansson, Kari, Blackwood, Douglas H.R., Ehrenreich, Hannelore, Gurling, Hugh, Hultman, Christina M., Kirov, George, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Palotie, Aarno, Rietschel, Marcella, Sham, Pak C., O’Donovan, Michael C., Bergen, Sarah, Magnusson, Patrik K.E., Scolnick, Edward, Purcell, Shaun M., Pasaniuc, Bogdan, Sullivan, Patrick F., Raychaudhuri, Soumya, Price, Alkes L.
Published in American journal of human genetics (06.11.2014)

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Journal Article

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

by Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published in Brain (London, England : 1878) (01.10.2013)

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