The glucose transporter type 1 (Glut1) syndromes by Koch, Henner, Weber, Yvonne G.

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Defining the phenotypic spectrum of SLC6A1 mutations by Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation by Gardella, Elena, Becker, Felicitas, Møller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Bakke Møller, Louise, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, Weber, Yvonne G.

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Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview by Fischer, Florian P, Karge, Robin A, Weber, Yvonne G, Koch, Henner, Wolking, Stefan, Voigt, Aaron

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Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy by Scherer, Maximillian, Milosevic, Luka, Guggenberger, Robert, Maus, Volker, Naros, Georgios, Grimm, Florian, Bucurenciu, Iancu, Steinhoff, Bernhard J., Weber, Yvonne G., Lerche, Holger, Weiss, Daniel, Rona, Sabine, Gharabaghi, Alireza

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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Jabbari, Kamel, Ruppert, Ann-Kathrin, Lal, Dennis, Cestèle, Sandrine, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Sisodiya, Sanjay M, Nabbout, Rima, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Desbiens, Richard, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Avbersek, Andreja, McCormack, Mark, Delanty, Norman, Depondt, Chantal, Zimprich, Fritz, Peter, Sarah, van Rooij, Jeroen, Ikram, M Arfan, Avanzini, Giuliano, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, May, Patrick, Girard, Simon, Bobbili, Dheeraj R, Schubert, Julian, Arfan Ikram, M, Maljevic, Snezana, Cossette, Patrick, Lerche, Holger, Ferlazzo, Edoardo, La Neve, Angela, Vignoli, Aglaia, Crichiutti, Giovanni, Gambardella, Antonio, Belcastro, Vincenzo, Bianchi, Amedeo, Yalçın, Destina, Dizdarer, Gulsen, Arslan, Kezban, Yapıcı, Zuhal, Kuşcu, Demet, Leu, Costin, Heggeli, Kristin, Willis, Joseph, Jorgensen, Andrea, Srivastava, Prashant, Rau, Sarah

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Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability by Liu, Yuanyuan, Schubert, Julian, Sonnenberg, Lukas, Helbig, Katherine L, Hoei-Hansen, Christina E, Koko, Mahmoud, Rannap, Maert, Lauxmann, Stephan, Huq, Mahbubul, Schneider, Michael C, Johannesen, Katrine M, Kurlemann, Gerhard, Gardella, Elena, Becker, Felicitas, Weber, Yvonne G, Benda, Jan, Møller, Rikke S, Lerche, Holger

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A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation by Boon, Paul, Vonck, Kristl, van Rijckevorsel, Kenou, Tahry, Riem El, Elger, Christian E, Mullatti, Nandini, Schulze-Bonhage, Andreas, Wagner, Louis, Diehl, Beate, Hamer, Hajo, Reuber, Markus, Kostov, Hrisimir, Legros, Benjamin, Noachtar, Soheyl, Weber, Yvonne G, Coenen, Volker A, Rooijakkers, Herbert, Schijns, Olaf E.M.G, Selway, Richard, Van Roost, Dirk, Eggleston, Katherine S, Van Grunderbeek, Wim, Jayewardene, Amara K, McGuire, Ryan M

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Wearables for gait and balance assessment in the neurological ward - study design and first results of a prospective cross-sectional feasibility study with 384 inpatients by Bernhard, Felix P, Sartor, Jennifer, Bettecken, Kristina, Hobert, Markus A, Arnold, Carina, Weber, Yvonne G, Poli, Sven, Margraf, Nils G, Schlenstedt, Christian, Hansen, Clint, Maetzler, Walter

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy by Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies by Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G, Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C M, Koeleman, Bobby P, Lindhout, Dick, Weber, Yvonne G, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J, Kunz, Wolfram S, Surges, Rainer, Elger, Christian E, Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M, Rosenow, Felix, Neubauer, Bernd A, Reinthaler, Eva M, Zimprich, Fritz, Feucht, Martha, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas

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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1 by Suls, Arvid, Mullen, Saul A., Weber, Yvonne G., Verhaert, Kristien, Ceulemans, Berten, Guerrini, Renzo, Wuttke, Thomas V., Salvo-Vargas, Alberto, Deprez, Liesbet, Claes, Lieve R. F., Jordanova, Albena, Berkovic, Samuel F., Lerche, Holger, De Jonghe, Peter, Scheffer, Ingrid E.

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Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease by Schwarz, Niklas, Uysal, Betül, Welzer, Marc, Bahr, Jacqueline C, Layer, Nikolas, Löffler, Heidi, Stanaitis, Kornelijus, Pa, Harshad, Weber, Yvonne G, Hedrich, Ulrike Bs, Honegger, Jürgen B, Skodras, Angelos, Becker, Albert J, Wuttke, Thomas V, Koch, Henner

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Genetic mechanisms in idiopathic epilepsies by Weber, Yvonne G, Lerche, Holger

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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak by Weber, Yvonne G, Storch, Alexander, Wuttke, Thomas V, Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A, Huber, Stephan M, Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M, Münchau, Alexander, Edwards, Mark J, Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P, Lehmann-Horn, Frank, Lerche, Holger

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Targeted next generation sequencing as a diagnostic tool in epileptic disorders by Lemke, Johannes R., Riesch, Erik, Scheurenbrand, Tim, Schubach, Max, Wilhelm, Christian, Steiner, Isabelle, Hansen, Jörg, Courage, Carolina, Gallati, Sabina, Bürki, Sarah, Strozzi, Susi, Simonetti, Barbara Goeggel, Grunt, Sebastian, Steinlin, Maja, Alber, Michael, Wolff, Markus, Klopstock, Thomas, Prott, Eva C., Lorenz, Rüdiger, Spaich, Christiane, Rona, Sabine, Lakshminarasimhan, Maya, Kröll, Judith, Dorn, Thomas, Krämer, Günter, Synofzik, Matthis, Becker, Felicitas, Weber, Yvonne G., Lerche, Holger, Böhm, Detlef, Biskup, Saskia

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Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, 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, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger

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Postictal Psychosis in Epilepsy: A Clinicogenetic Study by Braatz, Vera, Martins Custodio, Helena, Leu, Costin, Agrò, Luigi, Wang, Baihan, Calafato, Stella, Rayner, Genevieve, Doyle, Michael G., Hengsbach, Christian, Bisulli, Francesca, Weber, Yvonne G., Gambardella, Antonio, Delanty, Norman, Cavalleri, Gianpiero, Foong, Jacqueline, Scheffer, Ingrid E., Berkovic, Samuel F., Bramon, Elvira, Balestrini, Simona, Sisodiya, Sanjay M.

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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies by Galer, Peter D., Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E., Pendziwiat, Manuela, Helbig, Katherine L., Ellis, Colin A., Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo

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Assessing 72 h vs. 24 h of long-term video-EEG monitoring to confirm the diagnosis of epilepsy: a retrospective observational study by Timpte, Katharina, Rosenkötter, Ulrike, Honrath, Philipp, Weber, Yvonne, Wolking, Stefan, Heckelmann, Jan

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