High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing von Douben, H.C.W., Nellist, M., Unen, L. van, Elfferich, P., Kasteleijn, E., Hoogeveen-Westerveld, M., Louwen, J., Veghel-Plandsoen, M. van, Valk, W. de, Saris, J.J., Hendriks, F., Korpershoek, E., Hoefsloot, L.H., Vliet, M. van, Bever, Y. van, Laar, I. van de, Aten, E., Lachmeijer, A.M.A., Taal, W., Bersselaar, L. van den, Schuurmans, J., Oostenbrink, R., Minkelen, R. van, Ierland, Y. van, Ham, T.J. van

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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities von Vandervore, LV, Schot, R, Milanese, C, Smits, DJ, Kasteleijn, E, Fry, AE, Pilz, DT, Brock, S, Börklü-Yücel, E, Post, M, Bahi-Buisson, N, Sánchez-Soler, MJ, van Slegtenhorst, M, Keren, B, Afenjar, A, Coury, SA, Tan, W-H, Oegema, R, de Vries, LS, Fawcett, KA, Nikkels, PGJ, Bertoli-Avella, A, Al Hashem, A, Alwabel, AA, Tlili-Graiess, K, Efthymiou, S, Zafar, F, Rana, N, Bibi, F, Houlden, H, Maroofian, R, Person, RE, Crunk, A, Savatt, JM, Turner, L, Doosti, M, Karimiani, EG, Saadi, NW, Akhondian, J, Lequin, MH, Kayserili, H, van der Spek, PJ, Jansen, AC, Kros, JM, Verdijk, RM, Milošević, NJ, Fornerod, M, Mastroberardino, PG, Mancini, GMS

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Rapidity of CNS Effect on Photoparoxysmal Response for Brivaracetam vs. Levetiracetam: A Randomized, Double-blind, Crossover Trial in Photosensitive Epilepsy Patients von Reed, Ronald C., Rosenfeld, William E., Lippmann, Susan M., Eijkemans, Rene M. J. C., Kasteleijn-Nolst Trenité, Dorothee G. A.

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The Importance of Photosensitivity for Epilepsy von Trenite, Dorothee Kasteleijn-Nolst

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Kv7 potassium channel activation with ICA‐105665 reduces photoparoxysmal EEG responses in patients with epilepsy von Kasteleijn‐Nolst Trenité, Dorotheé G. A., Biton, Victor, French, Jacqueline A., Abou‐Khalil, Bassel, Rosenfeld, William E., Diventura, Bree, Moore, Elizabeth L., Hetherington, Seth V., Rigdon, Greg C.

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Evaluation of brivaracetam, a novel SV2A ligand, in the photosensitivity model von KASTELEIJN-NOLST TRENITE, D. G. A, GENTON, P, PARAIN, D, MASNOU, P, STEINHOFF, B. J, JACOBS, T, PIGEOLET, E, STOCKIS, A, HIRSCH, E

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CHD2 variants are a risk factor for photosensitivity in epilepsy von 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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Subjective Sleep Disturbance in Patients with Partial Epilepsy: A Questionnaire‐based Study on Prevalence and Impact on Quality of Life von De Weerd, Al, De Haas, Sanne, Otte, Andreas, Trenité, Dorothée Kasteleijn‐Nolst, Van Erp, Gerard, Cohen, Adam, De Kam, Marieke, Van Gerven, Joop

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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 von STEFFEN, Michael Steffen, LEU, Costin, LA NEVE, Angela, CRICHIUTTI, Giovanni, DE KOVEL, Carolien G. F, TRENITE, Dorothée Kasteleijn-Nolst, DE HAAN, Gerrit-Jan, LINDHOUT, Dick, GAUS, Verena, SCHMITZ, Bettina, JANZ, Dieter, WEBER, Yvonne G, RUPPERT, Ann-Kathrin, BECKER, Felicitas, LERCHE, Holger, STEINHOFF, Bernhard J, KLEEFUSS-LIE, Ailing A, KUNZ, Wolfram S, SURGES, Rainer, ELGER, Christian E, MUHLE, Hiltrud, VON SPICZAK, Sarah, OSTERTAG, Philipp, ZARA, Federico, HELBIG, Ingo, STEPHANI, Ulrich, MØLLER, Rikke S, HJALGRIM, Helle, DIBBENS, Leanne M, BELLOWS, Susannah, OLIVER, Karen, MULLEN, Saul, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, STRIANO, Pasquale, EVERETT, Kate V, GARDINER, Mark R, MARINI, Carla, GUERRINI, Renzo, LEHESJOKI, Anna-Elina, SIREN, Auli, ROBBIANO, Angela, CAPOVILLA, Giuseppe, TINUPER, Paolo, GAMBARDELLA, Antonio, BIANCHI, Amedeo

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Consensus on diagnosis and management of JME: From founder's observations to current trends von Kasteleijn- Nolst Trenité, Dorothée G.A, Schmitz, Bettina, Janz, Dieter, Delgado-Escueta, Antonio V, Thomas, Pierre, Hirsch, Edouard, Lerche, Holger, Camfield, Carol, Baykan, Betul, Feucht, Martha, Martínez-Juárez, Iris E, Duron, Reyna M, Medina, Marco T, Rubboli, Guido, Jerney, Judith, Hermann, Bruce, Yacubian, Elza, Koutroumanidis, Michael, Stephani, Ulrich, Salas-Puig, Javier, Reed, Ronald C, Woermann, Friedrich, Wandschneider, Britta, Bureau, Michelle, Gambardella, Antonio, Koepp, Matthias J, Gelisse, Philippe, Gurses, Cardan, Crespel, Arielle, Nguyen-Michel, Vi Huong, Ferlazzo, Edoardo, Grisar, Thierry, Helbig, Ingo, Koeleman, Bobby P.C, Striano, Pasquale, Trimble, Michael, Buono, Russel, Cossette, Patrick, Represa, Alfonso, Dravet, Charlotte, Serafini, Anna, Berglund, Ivanka Savic, Sisodiya, Sanjay M, Yamakawa, Kazuhiro, Genton, Pierre

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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance von Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, Mancini, Grazia M.S.

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies von 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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Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13 von Pinto, Dalila, Westland, Birgit, de Haan, Gerrit-Jan, Rudolf, Gabrielle, da Silva, Berta Martins, Hirsch, Edouard, Lindhout, Dick, Trenité, Dorothée G.A. Kasteleijn-Nolst, Koeleman, Bobby P.C.

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Epilepsy, behavior, and art (Epilepsy, Brain, and Mind, part 1) von Rektor, Ivan, Schachter, Steven C, Arzy, Shahar, Baloyannis, Stavros J, Bazil, Carl, Brázdil, Milan, Engel, Jerome, Helmstaedter, Gerhard, Hesdorffer, Dale C, Jones-Gotman, Marilyn, Kesner, Ladislav, Komárek, Vladimír, Krämer, Günter, Leppik, Ilo E, Mann, Michael W, Mula, Marco, Risse, Gail L, Stoker, Guy W, Kasteleijn- Nolst Trenité, Dorothée G.A, Trimble, Michael, Tyrliková, Ivana, Korczyn, Amos D

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Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies von Anon

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Living with epilepsy: Long-term prognosis and psychosocial outcomes von SHACKLETON, D. P, TRENITE, D. G. A. Kasteleijn-Nolst, DE CRAEN, A. J. M, VANDENBROUCKE, J. P, WESTENDORP, R. G. J

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Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies? von Verbeek, Nienke E, Wassenaar, Merel, van Campen, Jolien S, Sonsma, Anja, Gunning, Boudewijn, Knoers, Nine, Lindhout, Dick, Jansen, Floor E, Leijten, Frans, Brilstra, Eva H, Kasteleijn-Nolst Trenité, Dorothée

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Clinical and genetic analysis of a family with two rare reflex epilepsies von Kasteleijn-Nolst Trenité, Dorothée G.A, Volkers, Linda, Strengman, Eric, Schippers, Herman M, Perquin, Willem, de Haan, Gerrit-Jan, Gkountidi, Anastasia O, Slot, Ruben van’t, van de Graaf, Stan F, Jocic-Jakubi, Bosanka, Capovilla, Giuseppe, Covanis, Athanasios, Parisi, Pasquale, Veggiotti, Pierangelo, Brinciotti, Mario, Incorpora, Gemma, Piccioli, Marta, Cantonetti, Laura, Berkovic, Samuel F, Scheffer, Ingrid E, Brilstra, Eva H, Sonsma, Anja C.M, Bader, Adri J, de Kovel, Carolien G.F, Koeleman, Bobby P.C

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Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis von de Kovel, C.G.F, Pinto, D, Tauer, U, Lorenz, S, Muhle, H, Leu, C, Neubauer, B.A, Hempelmann, A, Callenbach, P.M.C, Scheffer, I.E, Berkovic, S.F, Rudolf, G, Striano, P, Siren, A, Baykan, B, Sander, T, Lindhout, D, Trenité, D.G. Kasteleijn-Nolst, Stephani, U, Koeleman, B.P.C

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Evaluation of carisbamate, a novel antiepileptic drug, in photosensitive patients: An exploratory, placebo-controlled study von Kasteleijn-Nolst Trenité, Dorothée G.A, French, Jacqueline A, Hirsch, Edouard, Macher, Jean-Paul, Meyer, Bernd-Ulrich, Grosse, Pascal A, Abou-Khalil, Bassel W, Rosenfeld, William E, van Gerven, Joop, Novak, Gerald P, Parmeggiani, Lucio, Schmidt, Bernd, Gibson, David, Guerrini, Renzo

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