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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
Adesoji, Oluyomi M., Schulz, Herbert, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland
ORCID: 0000-0001-9938-7126, Lerche, Holger and Nothnagel, Michael
ORCID: 0000-0001-8305-7114
(2022).
Benchmarking of univariate pleiotropy detection methods applied to epilepsy.
Hum. Mutat., 43 (9).
S. 1314 - 1333.
LONDON:
WILEY-HINDAWI.
ISSN 1098-1004
Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Krause, Roland
ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland
ORCID: 0000-0001-9938-7126, May, Patrick
ORCID: 0000-0001-8698-3770, Balling, Rudi
ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A.
(2018).
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur. J. Hum. Genet., 26 (2).
S. 258 - 265.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmueller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, Andre G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Sander, Thomas, Neubauer, Bernd A., May, Patrick
ORCID: 0000-0001-8698-3770, Lerche, Holger and Nuernberg, Peter
(2018).
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PLoS One, 13 (8).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Koko, Mahmoud ORCID: 0000-0001-9512-0184, Krause, Roland
ORCID: 0000-0001-9938-7126, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick
ORCID: 0000-0001-8698-3770 and Lerche, Holger
(2021).
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
EBioMedicine, 72.
AMSTERDAM:
ELSEVIER.
ISSN 2352-3964
Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Perez-Palma, Eduardo
ORCID: 0000-0003-0546-5141, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Moller, Rikke S., Krause, Roland, Nuernberg, Peter, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno and Daly, Mark J.
(2020).
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Genome Med., 12 (1).
LONDON:
BMC.
ISSN 1756-994X
Lal, Dennis, Reinthaler, Eva M., Dejanovici, Borislav, May, Patrick ORCID: 0000-0001-8698-3770, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico
ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig
ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Krause, Roland
ORCID: 0000-0001-9938-7126, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger and Neubauer, Bernd A.
(2016).
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One, 11 (3).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Lal, Dennis, Steinbruecker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, Lehesjoki, Anna-Elina, Nuernberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Becker, Albert J., Schoch, Susanne, Hansen, Joerg, Dorn, Thomas, Hohl, Christin, Luescher, Nicole, von Spiczak, Sarah and Lemke, Johannes R.
(2015).
Investigation of GRIN2A in common epilepsy phenotypes.
Epilepsy Res., 115.
S. 95 - 100.
AMSTERDAM:
ELSEVIER SCIENCE BV.
ISSN 1872-6844
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
Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis
ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael
ORCID: 0000-0001-8305-7114, May, Patrick
ORCID: 0000-0001-8698-3770, Krause, Roland
ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota
ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid
ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid
ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus
ORCID: 0000-0001-5640-0888, Maljevic, Snezana
ORCID: 0000-0003-1876-5872, Schule, Rebecca
ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R.
(2015).
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nature Genet., 47 (4).
S. 393 - 402.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis
ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael
ORCID: 0000-0001-8305-7114, May, Patrick
ORCID: 0000-0001-8698-3770, Krause, Roland
ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota
ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid
ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid
ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus
ORCID: 0000-0001-5640-0888, Maljevic, Snezana
ORCID: 0000-0003-1876-5872, Schule, Rebecca
ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R.
(2015).
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nature Genet., 47 (4).
S. 393 - 402.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
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