Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies by de Kovel, Carolien G. F., Trucks, Holger, Helbig, Ingo, Mefford, Heather C., Baker, Carl, Leu, Costin, Kluck, Christian, Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Obermeier, Tanja, Kleefuß-Lie, Ailing A., Hallmann, Kerstin, Steffens, Michael, Gaus, Verena, Klein, Karl M., Hamer, Hajo M., Rosenow, Felix, Brilstra, Eva H., Kasteleijn-Nolst Trenité, Dorothée, Swinkels, Marielle E. M., Weber, Yvonne G., Unterberger, Iris, Zimprich, Fritz, Urak, Lydia, Feucht, Martha, Fuchs, Karoline, Møller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Rückert, Ina-Maria, Wichmann, Heinz-Erich, Franke, Andre, Schreiber, Stefan, Nürnberg, Peter, Elger, Christian E., Lerche, Holger, Stephani, Ulrich, Koeleman, Bobby P. C., Lindhout, Dick, Eichler, Evan E., Sander, Thomas

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Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5 -related epilepsy by Müller, A, Helbig, I, Jansen, C, Bast, T, Guerrini, R, Jähn, J, Muhle, H, Auvin, S, Korenke, G.C, Philip, S, Keimer, R, Striano, P, Wolf, N.I, Püst, B, Thiels, Ch, Fogarasi, A, Waltz, S, Kurlemann, G, Kovacevic-Preradovic, T, Ceulemans, B, Schmitt, B, Philippi, H, Tarquinio, D, Buerki, S, von Stülpnagel, C, Kluger, G

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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functio... by Coste de Bagneaux, Pierre, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J, Hempel, Maja, Flucher, Bernhard E, Kutsche, Kerstin

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V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function by Hedrich, U.B.S, Syrbe, S, Riesch, E, Djémié, T, Müller, S, Møller, R.S, Maher, B, Hernandez-Hernandez, L, Synofzik, M, Caglayan, H.S, Arslan, M, Serratosa, J, Gonzalez, M, Züchner, S, Palotie, A, Suls, A, De Jonghe, P, Helbig, I, Biskup, S, Wolff, M, Maljevic, S, Schuele-Freyer, R, Sisodiya, S.M, Weckhuysen, S, Lerche, H, Lemke, J.R

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GRIN2A-related disorders: genotype and functional consequence predict phenotype by Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity by Bachmann-Gagescu, Ruxandra, Mefford, Heather C., Cowan, Charles, Glew, Gwen M., Hing, Anne V., Wallace, Stephanie, Bader, Patricia I., Hamati, Aline, Reitnauer, Pamela J., Smith, Rosemarie, Stockton, David W., Muhle, Hiltrud, Helbig, Ingo, Eichler, Evan E., Ballif, Blake C., Rosenfeld, Jill, Tsuchiya, Karen D.

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance by Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies by Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.

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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, Bahlo, Melanie, Balding, David J., Bast, Thomas, Becker, Albert J., Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cherny, Stacey S., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Francis, Ben, Freytag, Saskia, Gaus, Verena, Geller, Eric B., Glauser, Tracy, Goldstein, David B., Gui, Hongsheng, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Knowlton, Robert C., Kuzniecky, Ruben, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Marson, Anthony G., McCormack, Mark, Mills, James L., Mirza, Nasir, Møller, Rikke S., Newton, Mark, Ng, Ping-Wing, Oliver, Karen L., Palotie, Aarno, Peter, Sarah, Petrovski, Slavé, Privitera, Michael, Radtke, Rodney, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, David F., Smith, Michael C., Smith, Philip E., Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Striano, Pasquale, Stroink, Hans, Surges, Rainer, Thio, Liu Lin, Todaro, Marian, Vari, Maria S., Visscher, Frank, von Spiczak, Sarah, Walley, Nicole M., Weisenberg, Judith, Yang, Wanling, Zara, Federico, Zimprich, Fritz

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals by Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Singh, Tarjinder, Watts, Nick, Lal, Dennis, Hakonarson, Hakon, Weckhuysen, Sarah, Petrovski, Slavé, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Guerrini, Renzo, Marson, Anthony G., Depondt, Chantal, Striano, Pasquale, Freyer, Catharine, Regan, Brigid M., Leu, Costin, Johns, Esther M.C., Macdonald, Alexandra, Bahlo, Melanie, Todaro, Marian, Stamberger, Hannah, Sadoway, Tara R., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Rademacher, Michael, van Baalen, Andreas, von Spiczak, Sarah, Afawi, Zaid, Canavati, Christina, Kluger, Gerhard, Blatt, Ilan, Weber, Yvonne G., Wolking, Stefan, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Chung, Seo-Kyung, Balestrini, Simona, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sham, Pak C., Lui, Colin H.T., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Vari, Maria Stella, Salpietro, Vincenzo, Tinuper, Paolo, Gagliardi, Monica, Montomoli, Martino, Doccini, Viola, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., Caglayan, S. Hande, Arslan, Mutluay, Yis, Uluc, Topaloglu, Pınar, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, French, Jacqueline A., Kuzniecky, Ruben I., Hegde, Manu, Helbig, Katherine L., Piras, Federica, Reif, Andreas, McQuillin, Andrew, Johnstone, Mandy, Palotie, Aarno, Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Rapaport, Mark H., Knowles, James A., McCarroll, Steven A., Lowenstein, Daniel H., Goldstein, David B.

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Genetic generalized epilepsies by Mullen, Saul A., Berkovic, Samuel F., Berkovic, Samuel F, Lowenstein, Daniel H, Kato, Mitsuhiro, Cross, Helen, Satishchandra, Parthasathy, Jonghe, Peter, Goldman, Alica, Petrou, Steve, Tan, Nigel CK, Helbig, Ingo, Mefford, Heather C, Jiang, Yuwu

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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders by Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E, Kosmicki, Jack A, Robinson, Elise B, Møller, Rikke S, Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, 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, Daly, Mark J

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Correction to: Knowledge transfer as a tool towards improvement of cancer care in low- and middle-income countries. 6th European Roundtable Meeting (ERTM), June 14th, 2019, Berlin,... by Ortmann, O., Torode, J., Schmiegel, W., Thomssen, C., Hakama, M., Basu, P., Ringborg, U., Helbig, U.

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KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties by Cioclu, Maria Cristina, Mosca, Ilaria, Ambrosino, Paolo, Puzo, Deborah, Bayat, Allan, Wortmann, Saskia B, Koch, Johannes, Strehlow, Vincent, Shirai, Kentaro, Matsumoto, Naomichi, Sanders, Stephan J, Michaud, Vincent, Legendre, Marine, Riva, Antonella, Striano, Pasquale, Muhle, Hiltrud, Pendziwiat, Manuela, Lesca, Gaetan, Mangano, Giuseppe Donato, Nardello, Rosaria, Lemke, Johannes R, Møller, Rikke S, Soldovieri, Maria Virginia, Rubboli, Guido, Taglialatela, Maurizio

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies by Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Palotie, Aarno, Pendziwiat, Manuela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Singh, Rani, Smith, Michael C., Sullivan, Joe, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Winawer, Melodie R., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Marson, Anthony G., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy by Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa

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Knowledge transfer as a tool towards improvement of cancer care in low- and middle-income countries. 6th European Roundtable Meeting (ERTM), June 14th, 2019, Berlin, Germany by Ortmann, O., Torode, J., Schmiegel, W., Thomssen, C., Hakama, M., Basu, P., Ringborg, U., Helbig, U.

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CHD2 variants are a risk factor for photosensitivity in epilepsy by Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Camila V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies by Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Mefford, Heather, de Jonghe, Peter, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J

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Diagnostic implications of genetic copy number variation in epilepsy plus by Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna‐Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Dijck, Anke, Zuffardi, Orsetta

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