![]() | Up a level |
Journal Article
Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie ORCID: 0000-0001-5132-0774, 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
ORCID: 0000-0003-0044-4632, 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
ORCID: 0000-0002-0460-7446, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andres, Jamnadas-Khoda, Jennifer
ORCID: 0000-0002-3372-4924, Johnson, Michael R., Kalviainen, Reetta, Kantanen, Anne-Mari, Kasperaviciute, Dalia, Trenite, Dorothee Kasteleijn-Nolst, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland
ORCID: 0000-0001-9938-7126, Krenn, Martin
ORCID: 0000-0003-3026-3082, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin
ORCID: 0000-0003-0598-3301, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia
ORCID: 0000-0002-6221-6822, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Moller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Noethen, Markus M., Nuernberg, Peter, O'Brien, Terence J., Oliver, Karen L., Palotie, Aarno, Pangilinan, Faith, Peter, Sarah, Petrovski, Slave, Poduri, Annapurna, Privitera, Michael, Radtke, Rodney, Rau, Sarah, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sham, Pak C., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, Alexander, Smith, David F., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug
ORCID: 0000-0002-0096-9765, Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Stevelink, Remi, Strauch, Konstantin, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Stroink, Hans, Surges, Rainer, Tan, K. Meng, Thio, Liu Lin
ORCID: 0000-0002-9779-7903, Thomas, G. Neil, Todaro, Marian, Tozzi, Rossana, Vari, Maria S., Vining, Eileen P. G., Visscher, Frank, von Spiczak, Sarah, Walley, Nicole M., Weber, Yvonne G., Wei, Zhi
ORCID: 0000-0001-6059-4267, Weisenberg, Judith, Whelan, Christopher D., Widdess-Walsh, Peter, Wolff, Markus
ORCID: 0000-0001-5640-0888, Wolking, Stefan
ORCID: 0000-0002-1460-6623, Yang, Wanling, Zara, Federico and Zimprich, Fritz
ORCID: 0000-0002-6998-5480
(2018).
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
Nat. Commun., 9.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Anttila, Verneri ORCID: 0000-0002-0073-4675, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie
ORCID: 0000-0003-1131-661X, Escott-Price, Valentina
ORCID: 0000-0003-1784-5483, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer
ORCID: 0000-0001-9212-2520, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi
ORCID: 0000-0001-6059-4267, Yu, Dongmei
ORCID: 0000-0001-7901-4365, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe
ORCID: 0000-0001-9088-234X, Boland, Anne, Deleuze, Jean-Francois, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Kamboh, M. Ilyas, Larson, Eric B., Rogaeva, Ekaterina, St George-Hyslop, Peter
ORCID: 0000-0003-0796-7209, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Demirci, F. Yesim
ORCID: 0000-0001-6907-9843, Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise
ORCID: 0000-0001-5195-0143, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda
ORCID: 0000-0002-2072-8010, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin
ORCID: 0000-0002-8217-2396, Noethen, Markus M., Rossor, Martin
ORCID: 0000-0001-8215-3120, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes
ORCID: 0000-0002-8096-3987, Lawlor, Brian, McQuillin, Andrew
ORCID: 0000-0003-1567-2240, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Merce, Seshadri, Sudha
ORCID: 0000-0001-6135-2622, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat
ORCID: 0000-0002-8164-9500, Winsvold, Bendik, Palta, Priit
ORCID: 0000-0001-9320-7008, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias
ORCID: 0000-0001-7169-2620, Ligthart, Lannie
ORCID: 0000-0002-6570-3319, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline
ORCID: 0000-0003-0239-9871, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimaki, Terho, Wedenoja, Juho
ORCID: 0000-0002-6155-0378, Buring, Julie E., Schuerks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari
ORCID: 0000-0002-6946-9195, Vepsalainen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hamalainen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb
ORCID: 0000-0001-8063-7674, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth
ORCID: 0000-0003-1249-4442, Goebel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko
ORCID: 0000-0002-3716-2455, Metspalu, Andres, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Ferrari, Michel D., Belin, Andrea C., van den Maagdenberg, Arn M. J. M., Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell, Catarino, Claudia B., Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N., French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer
ORCID: 0000-0002-3372-4924, Kalviainen, Reetta, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Lerche, Holger, Leu, Costin
ORCID: 0000-0003-0598-3301, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Moller, Rikke S., Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M., Smith, Philip, Sperling, Michael, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Surges, Rainer, Thomas, G. Neil
ORCID: 0000-0002-2777-1847, Visscher, Frank, Whelan, Christopher D., Zara, Federico, Heinzen, Erin L., Marson, Anthony
ORCID: 0000-0002-6861-8806, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter
ORCID: 0000-0001-5218-1737, Martinez, Maria
ORCID: 0000-0003-2180-4537, Morris, Huw R., Sharma, Manu, Ryten, Mina, Mok, Kin Y., Pulit, Sara
ORCID: 0000-0002-2502-3669, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, Boncoraglio, Giorgio, Thijs, Vincent
ORCID: 0000-0002-6614-8417, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie
ORCID: 0000-0002-7725-7520, Vicente, Astrid
ORCID: 0000-0001-7134-8037, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Perica, Vesna Boraska, Thornton, Laura M., Huckins, Laura M., Rayner, N. William, Lewis, Cathryn M., Gratacos, Monica, Rybakowski, Filip
ORCID: 0000-0001-5503-3019, Keski-Rahkonen, Anna
ORCID: 0000-0002-6713-7488, Raevuori, Anu
ORCID: 0000-0001-7704-9441, Hudson, James I., Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H., O'Toole, Julie K., Trace, Sara E., Davis, Oliver S. P., Helder, Sietske G., Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N., van Elburg, Annemarie A., Clementi, Maurizio, Forzan, Monica
ORCID: 0000-0003-2653-7300, Docampo, Elisa, Lissowska, Jolanta
ORCID: 0000-0003-2695-5799, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah
ORCID: 0000-0003-2199-6129, Herms, Stefan
ORCID: 0000-0002-2786-8200, Julia, Antonio, Rabionet, Raquel
ORCID: 0000-0001-5006-8140, Dick, Danielle M., Ripatti, Samuli, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J., Steen, Vidar M., Pinto, Dalila
ORCID: 0000-0002-8769-0846, Scherer, Stephen W., Aschauer, Harald
ORCID: 0000-0002-4449-372X, Schosser, Alexandra, Alfredsson, Lars
ORCID: 0000-0003-1688-6697, Padyukov, Leonid, Halmi, Katherine A., Mitchell, James, Strober, Michael, Bergen, Andrew W., Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru
ORCID: 0000-0001-5318-4382, Antoni Ramos-Quiroga, Josep, Sanchez-Mora, Cristina
ORCID: 0000-0003-4211-1107, Ribases, Marta
ORCID: 0000-0003-1039-1116, Casas, Miguel, Hervas, Amaia, Jesus Arranz, Maria, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan
ORCID: 0000-0002-2298-7008, Williams, Nigel, Dempfle, Astrid
ORCID: 0000-0002-2618-3920, Rothenberger, Aribert, Kuntsi, Jonna
ORCID: 0000-0002-0113-8162, Oades, Robert D., Banaschewski, Tobias, Franke, Barbara
ORCID: 0000-0003-4375-6572, Buitelaar, Jan K., Arias Vasquez, Alejandro, Doyle, Alysa E., Reif, Andreas, Lesch, Klaus-Peter
ORCID: 0000-0001-8348-153X, Freitag, Christine, Rivero, Olga
ORCID: 0000-0002-2664-4053, Palmason, Haukur, Romanos, Marcel
ORCID: 0000-0001-7628-8299, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H., Dalsgaard, Soeren, Borglum, Anders D., Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton H. D., Crosbie, Jennifer, Schachar, Russell, K., Sandra, McGough, James J., Grevet, Eugenio H., Medland, Sarah E., Robinson, Elise, Weiss, Lauren A., Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino
ORCID: 0000-0002-7128-7606, Betancur, Catalina
ORCID: 0000-0002-3327-4804, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patricia, Dawson, Geraldine, De Rubeis, Silvia
ORCID: 0000-0001-9383-6883, Duque, Frederico
ORCID: 0000-0001-5684-1472, Green, Andrew, Klauck, Sabine M., Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, Moreno-De-Luca, Daniel, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven
ORCID: 0000-0001-6994-4884, Vorstman, Jacob, Wassink, Thomas
ORCID: 0000-0002-0952-8333, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard
ORCID: 0000-0002-5614-3663, Roge, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G., Thompson, Robert C., Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E., Schalling, Martin, Jamain, Stephane
ORCID: 0000-0002-4321-4100, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Fullerton, Janice M., Guzman-Parra, Jose
ORCID: 0000-0002-1463-6435, Mayoral, Fermin, Schofield, Peter R., Cichon, Sven, Muhleisen, Thomas W., Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B., Gershon, Elliot S., Rice, John, Potash, James B., Zandi, Peter P., Craddock, Nick, Ferrier, I. Nicol, Alda, Martin
ORCID: 0000-0001-9544-3944, Rouleau, Guy A., Turecki, Gustavo
ORCID: 0000-0003-4075-2736, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M., Cruceanu, Cristiana, Jones, Ian R., Posthuma, Danielle, Andlauer, Till F. M., Forstner, Andreas J., Streit, Fabian, Baune, Bernhard T., Air, Tracy, Sinnamon, Grant, Wray, Naomi R., MacIntyre, Donald J., Porteous, David, Homuth, Georg, Rivera, Margarita
ORCID: 0000-0003-4717-1045, Grove, Jakob
ORCID: 0000-0003-2284-5744, Middeldorp, Christel M., Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H., Jansen, Rick
ORCID: 0000-0002-3333-6737, de Geus, Eco, Dunn, Erin, Li, Qingqin S., Nauck, Matthias, Schoevers, Robert A., Beekman, Aartjan T. F., Knowles, James A., Viktorin, Alexander
ORCID: 0000-0003-2141-2816, Arnold, Paul, Barr, Cathy L., Bedoya-Berrio, Gabriel, Bienvenu, O. Joseph, Brentani, Helena
ORCID: 0000-0001-5192-4682, Burton, Christie
ORCID: 0000-0002-8955-6528, Camarena, Beatriz
ORCID: 0000-0001-7737-501X, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M., Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn
ORCID: 0000-0003-3679-284X, Freimer, Nelson, Gerber, Gloria, Grados, Marco
ORCID: 0000-0002-6189-6264, Greenberg, Erica, Hanna, Gregory L., Hartmann, Andreas, Hirschtritt, Matthew E., Hoekstra, Pieter J., Huang, Alden, Huyser, Chaim
ORCID: 0000-0001-8757-3124, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel
ORCID: 0000-0002-5995-1981, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J., Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A., Maras, Athanasios, McGrath, Lauren, Miguel, Euripedes C., Mir, Pablo
ORCID: 0000-0003-1656-302X, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S., Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M., Reus, Victor, Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Roessner, Veit, Rosario, Maria, Samuels, Jack F., Sandor, Paul
ORCID: 0000-0003-2397-0758, Stein, Dan J., Tsetsos, Fotis, Van Nieuwerburgh, Filip
ORCID: 0000-0001-8815-5485, Weatherall, Sarah, Wendland, Jens R., Wolanczyk, Tomasz, Worbe, Yulia
ORCID: 0000-0001-5903-9370, Zai, Gwyneth, Goes, Fernando S., McLaughlin, Nicole, Nestadt, Paul S., Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria
ORCID: 0000-0001-6769-6813, Valencia-Duarte, Ana, Bramon, Elvira
ORCID: 0000-0003-1369-5983, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray
ORCID: 0000-0003-2490-2538, Chong, Siow A., Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kucinskas, Vaidutis, Keong, Jimmy Lee Chee, Limborska, Svetlana
ORCID: 0000-0002-1697-6820, Loughland, Carmel, Lonnqvist, Jouko, Maher, Brion, Mattheisen, Manuel
ORCID: 0000-0002-8442-493X, McDonald, Colm
ORCID: 0000-0003-1661-5192, Murphy, Kieran C., Nenadic, Igor, van Os, Jim
ORCID: 0000-0002-7245-1586, Pantelis, Christos
ORCID: 0000-0002-9565-0238, Pato, Michele, Petryshen, Tracey
ORCID: 0000-0002-7972-4612, Quested, Digby
ORCID: 0000-0001-6155-3336, Roussos, Panos, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Sim, Kang
ORCID: 0000-0003-3209-9626, So, Hon-Cheong
ORCID: 0000-0002-7102-833X, Stoegmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James
ORCID: 0000-0002-6980-4053, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V., Henskens, Frans, Mattingsdal, Morten
ORCID: 0000-0003-4440-0324, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M., Daly, Mark, Dichgans, Martin, Faraone, Stephen V., Guerreiro, Rita
ORCID: 0000-0001-5879-3486, Holmans, Peter, Kendler, Kenneth S., Koeleman, Bobby, Mathews, Carol A., Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie
ORCID: 0000-0002-4069-0259, Wood, Nicholas W., Cotsapas, Chris
ORCID: 0000-0002-7772-5910, Palotie, Aarno, Smoller, Jordan W., Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden and Neale, Benjamin M.
(2018).
Analysis of shared heritability in common disorders of the brain.
Science, 360 (6395).
S. 1313 - 1326.
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 1095-9203
Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank
ORCID: 0000-0003-2024-0485, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia
ORCID: 0000-0001-5608-5902, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina
ORCID: 0000-0002-3954-326X, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana
ORCID: 0000-0001-8920-9078, Rosati, Anna
ORCID: 0000-0002-8754-7214, Sander, Josemir, Schoeler, Natasha
ORCID: 0000-0001-6202-1497, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke
ORCID: 0000-0002-6713-2943 and Zuffardi, Orsetta
(2019).
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia, 60 (4).
S. 689 - 707.
HOBOKEN:
WILEY.
ISSN 1528-1167
Florian, Rahel T., Kraft, Florian ORCID: 0000-0002-5324-9155, Leitao, Elsa
ORCID: 0000-0001-5051-9714, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi
ORCID: 0000-0003-3036-9266, van Rootselaar, Anne-Fleur
ORCID: 0000-0002-8376-9098, Buratti, Julien
ORCID: 0000-0002-0901-0905, Kuehnel, Theresa, Schroeder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, lamiral, AnaiDe, Keren, Boris, Nava, Caroline
ORCID: 0000-0003-1272-0518, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-Francois, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle
ORCID: 0000-0002-2050-3911, Hirsch, Edouard, Kroes, Thessa
ORCID: 0000-0003-1416-5407, Reif, Philipp S., Rosenow, Felix, Ganos, Christos
ORCID: 0000-0001-8077-8530, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Berkovic, Samuel F., Bisulli, Francesca, Brancati, Francesco, Canafoglia, Laura, Casari, Giorgio, Guerrini, Renzo, Ishiura, Hiroyuki, Licchetta, Laura, Mei, Davide, Pippucci, Tommaso, Sadleir, Lynette, Scheffer, Ingrid E., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Tinuper, Paolo, Tsuji, Shoji, Zara, Federico, LeGuern, Eric, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie
ORCID: 0000-0001-5132-0774, Gecz, Jozef
ORCID: 0000-0002-7884-6861, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M. and Depienne, Christel
(2019).
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde
ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G.
(2018).
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am. J. Hum. Genet., 103 (3).
S. 431 - 440.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten ORCID: 0000-0002-7384-9182, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie
ORCID: 0000-0003-4900-9877, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa
ORCID: 0000-0003-4453-017X, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G.
(2021).
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018).
Am. J. Hum. Genet., 108 (12).
S. 2385 - 2386.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Heyne, Henrike O., Singh, Tarjinder ORCID: 0000-0003-0601-6815, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick
ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Moller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis and Lemke, Johannes R.
(2018).
De novo variants in neurodevelopmental disorders with epilepsy.
Nature Genet., 50 (7).
S. 1048 - 1056.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Johannesen, Katrine M., Gardena, Elena, Encinas, Alejandra C., Lehesjoki, Anna-Enna, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice ORCID: 0000-0002-7457-2779, Giacomini, Thea
ORCID: 0000-0002-7802-8789, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Burki, Sarah, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza
ORCID: 0000-0001-5645-021X, Veggiotti, Pierangelo, Lal, Dennis, Bruenger, Tobias, Zara, Federico, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Rohholi, Guido and Moller, Rikke S.
(2019).
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia, 60 (5).
S. 830 - 845.
HOBOKEN:
WILEY.
ISSN 1528-1167
Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas ORCID: 0000-0002-0119-5896, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W. Y., Ahring, Philip K., Moller, Rikke S.
ORCID: 0000-0002-9664-1448 and Gardella, Elena
(2022).
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet. Med., 24 (3).
S. 681 - 694.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1530-0366
Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed
ORCID: 0000-0001-9067-5017, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico
ORCID: 0000-0001-9744-5222, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Christensen, Jakob
ORCID: 0000-0002-9385-6435, Gronborg, Sabine, Scherer, Stephen W.
ORCID: 0000-0002-8326-1999, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara
ORCID: 0000-0002-4403-6342, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena
ORCID: 0000-0001-5602-2805, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Muller-Schluter, Karen, Bassan, Haim
ORCID: 0000-0003-1627-8069, Borovikov, Artem
ORCID: 0000-0001-5871-8005, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna
ORCID: 0000-0002-3835-2824, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann
ORCID: 0000-0002-1593-6149, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brunger, Tobias, May, Patrick
ORCID: 0000-0001-8698-3770, Lal, Dennis, Lederer, Damien, Rubboli, Guido
ORCID: 0000-0002-5309-2514, Heyne, Henrike O., Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger and Moller, Rikke S.
ORCID: 0000-0002-9664-1448
.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Li, Melody, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Phillips, A. Marie, Petrovski, Slave, Hildebrand, Michael S., Burgess, Rosemary, Mount, Therese, Zara, Federico
ORCID: 0000-0001-9744-5222, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Schubert, Julian, Thiele, Holger, Nuernberg, Peter, Wong, Michael, Weisenberg, Judith L., Thio, Liu Lin
ORCID: 0000-0002-9779-7903, Lerche, Holger, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven
ORCID: 0000-0002-4960-6375 and Reid, Christopher A.
(2018).
Gain-of-function HCN2 variants in genetic epilepsy.
Hum. Mutat., 39 (2).
S. 202 - 210.
HOBOKEN:
WILEY.
ISSN 1098-1004
May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon
ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan
ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie
ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine
ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate
ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur
ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin
ORCID: 0000-0003-3026-3082, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi
ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven
ORCID: 0000-0002-4960-6375, Mantegazza, Massimo
ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana
ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland
ORCID: 0000-0001-9938-7126 and Lerche, Holger
(2018).
Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol., 17 (8).
S. 699 - 709.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1474-4465
Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland
ORCID: 0000-0001-9938-7126, May, Patrick
ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi
ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico
ORCID: 0000-0001-9744-5222, Maljevic, Snezana
ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther
(2017).
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain, 140.
S. 2879 - 2895.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Pal, Deb K., Ferrie, Colin, Addis, Laura ORCID: 0000-0001-8455-4278, Akiyama, Tomoyuki, Capovilla, Giuseppe, Caraballo, Roberto, de Saint-Martin, Anne, Fejerman, Natalio, Guerrini, Renzo, Hamandi, Khalid
ORCID: 0000-0001-7116-262X, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Ioannides, Andreas A., Kobayashi, Katsuhiro, Lal, Dennis, Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Muhle, Hiltrud, Neubauer, Bernd A., Pisano, Tiziana
ORCID: 0000-0001-8920-9078, Rudolf, Gabrielle
ORCID: 0000-0002-2050-3911, Seegmuller, Caroline, Shibata, Takashi, Smith, Anna, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Strug, Lisa J., Szepetowski, Pierre, Valeta, Thalia, Yoshinaga, Harumi and Koutroumanidis, Michalis
(2016).
Idiopathic focal epilepsies: the lost tribe.
Epileptic Disord., 18 (3).
S. 252 - 289.
MONTROUGE:
JOHN LIBBEY EUROTEXT LTD.
ISSN 1950-6945
Scala, Marcello ORCID: 0000-0003-2194-7239, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa
ORCID: 0000-0002-7630-8365, Telegrafi, Aida, de Man, Stella A., van Slegtenhorst, Marjon, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Madia, Francesca, Scudieri, Paolo, Uva, Paolo
ORCID: 0000-0002-9524-8492, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna
ORCID: 0000-0003-0212-8318, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo
ORCID: 0000-0002-8318-7231, Lipska-Zietkiewicz, Beata S., Saris, Jasper J., Charlet-Berguerand, Nicolas
ORCID: 0000-0002-4423-4920, Zara, Federico, Striano, Pasquale and Piton, Amelie
(2022).
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum. Mutat., 43 (9).
S. 1299 - 1314.
HOBOKEN:
WILEY.
ISSN 1098-1004
Schulz, Herbert, Ruppert, Ann-Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, Vari, Maria S., Balagura, Ganna ORCID: 0000-0003-0212-8318, Minetti, Carlo, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Blanche, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Moller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur
ORCID: 0000-0001-5319-0547, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J. and Sander, Thomas
(2019).
No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia, 60 (5).
S. E31 - 6.
HOBOKEN:
WILEY.
ISSN 1528-1167
Schwarz, Niklas ORCID: 0000-0002-4064-3073, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brunger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan
ORCID: 0000-0003-4986-8006, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Heimer, Gali, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Kearney, Hugh
ORCID: 0000-0003-2320-3487, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Kousiappa, Ioanna
ORCID: 0000-0002-7491-5946, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick
ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Helbig, Ingo and Weber, Yvonne
(2022).
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology, 98 (20).
S. E2046 - 14.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
Steffens, Michael ORCID: 0000-0002-6445-8593, Leu, Costin
ORCID: 0000-0003-0598-3301, Ruppert, Ann-Kathrin, Zara, Federico
ORCID: 0000-0001-9744-5222, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio
ORCID: 0000-0001-7384-3074, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G. F., Trenite, Dorothee Kasteleijn-Nolst, de Haan, Gerrit-Jan
ORCID: 0000-0003-2373-9863, Lindhout, Dick
ORCID: 0000-0001-9580-624X, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuss-Lie, Ailing A., Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Surges, Rainer
ORCID: 0000-0002-3177-8582, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Stephani, Ulrich, Moller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah
ORCID: 0000-0003-1949-8489, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie
ORCID: 0000-0001-6430-4693, Leguern, Eric, Guerrero, Rosa
ORCID: 0000-0002-4138-4667, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Moerzinger, Martina, Feucht, Martha, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid
ORCID: 0000-0003-0328-198X, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena
ORCID: 0000-0002-3833-3754, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur
ORCID: 0000-0001-5319-0547, Gieger, Christian
ORCID: 0000-0001-6986-9554, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David
ORCID: 0000-0002-4332-6110, Franke, Andre
ORCID: 0000-0003-1530-5811, Meesters, Christian
ORCID: 0000-0003-2408-7588, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rueschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nuernberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P. C. and Sander, Thomas
(2012).
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Hum. Mol. Genet., 21 (24).
S. 5359 - 5373.
OXFORD:
OXFORD UNIV PRESS.
ISSN 0964-6906
Vanni, Nicola, Fruscione, Floriana, Ferlazzo, Edoardo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Traverso, Monica, Sander, Thomas, Falace, Antonio
ORCID: 0000-0001-5336-0251, Gazzerro, Elisabetta, Bramanti, Placido, Bielawski, Jacek, Fassio, Anna, Minetti, Carlo
ORCID: 0000-0002-0640-1804, Genton, Pierre and Zara, Federico
ORCID: 0000-0001-9744-5222
(2014).
Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy.
Ann. Neurol., 76 (2).
S. 206 - 213.
HOBOKEN:
WILEY.
ISSN 1531-8249
Wolff, Markus ORCID: 0000-0001-5640-0888, Johannesen, Katrine M., Hedrich, Ulrike B. S., Masnada, Silvia
ORCID: 0000-0003-3850-8849, Rubboli, Guido
ORCID: 0000-0002-5309-2514, Gardella, Elena
ORCID: 0000-0002-7138-6022, Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Ville, Dorothee, Milh, Mathieu, Villard, Laurent
ORCID: 0000-0001-6657-5008, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline
ORCID: 0000-0003-1272-0518, Schwarz, Niklas, Gerard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stephane, Miranda, Maria J., Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P., Mancini, Grazia, Biskup, Saskia, Hoertnagel, Konstanze, Doecker, Miriam, Bast, Thomas, Loddenkemper, Tobias
ORCID: 0000-0003-2074-0674, Wong-Kisiel, Lily, Baumeister, Friedrich M., Fazeli, Walid, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Dilena, Robertino
ORCID: 0000-0003-1064-1840, Fontana, Elena
ORCID: 0000-0002-4553-2452, Zara, Federico
ORCID: 0000-0001-9744-5222, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G., Arndt, Daniel H., Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brueckner, Reinhard, Pietz, Joachim, Golla, Guenther, Jillella, Dinesh
ORCID: 0000-0002-5399-0170, Linnet, Karen M., Charles, Perrine, Moog, Ute, Oiglane-Shlik, Eve, Mantovani, John F., Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G. Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L., Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Lemke, Johannes R., Kraegeloh-Mann, Ingeborg, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Kluger, Gerhard, Lerche, Holger and Moller, Rikke S.
(2017).
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain, 140.
S. 1316 - 1337.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Wolking, Stefan ORCID: 0000-0002-1460-6623, Schulz, Herbert, Nies, Anne T., McCormack, Mark, Schaeffeler, Elke, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Klein, Karl M., Krenn, Martin, Moller, Rikke S., Nikanorova, Marina, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Marson, Anthony G., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Zara, Federico, Zimprich, Fritz, Weber, Yvonne G., Krause, Roland, Sisodiya, Sanjay, Schwab, Matthias, Sander, Thomas and Lerche, Holger
(2020).
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.
Pharmacogenomics, 21 (5).
S. 325 - 336.
LONDON:
FUTURE MEDICINE LTD.
ISSN 1744-8042