학술논문
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'학술논문'
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1~20
Academic Journal
Epilepsia Open. December 19, 2025, Vol. 10 Issue 6, p2032, 4 p.
Academic Journal
Feil, Katharina; Kindzierski, Sophia; Single, Constanze; Geiger-Primo, Lena; Schweikert, Daniela; Adolph, Michael; Kegele, Josua; Lerche, Holger; Ziemann, Ulf; Möller, Leona; Mengel, Annerose
Neurocritical Care. :1-13
Academic Journal
Ethofer, Silke; Erb, Michael; Milian, Monika; Rona, Sabine; Lerche, Holger; Honegger, Jürgen; Ethofer, Thomas
Epilepsia Open. October 11, 2025, Vol. 10 Issue 5, p1558, 17 p.
Academic Journal
Erfanian Omidvar, Maryam; Murrell, Jill R; Prentice, Anna J; Helbig, Ingo; Lerche, Holger; May, Patrick; null, null; Chen, Siwei; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Andrade, Danielle M; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Buono, Russell J; Busch, Robyn M; Canafoglia, Laura; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chou, I-Jun; Chung, Seo-Kyung; Cole, Andrew J; Cossette, Patrick; Cotsapas, Chris; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J; Doccini, Viola; Ellis, Colin; Epstein, Leon; Evans, Meghan; Faucon, Annika; Ferguson, Lisa; Ferraro, Thomas N; Feucht, Martha; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A; Freri, Elena; Gagliardi, Monica; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Guerrini, Renzo; Haas, Kevin; Heinzen, Erin L; Heyne, Henrike; Hoeper, Olivia; Inuzuka, Luciana Midori; Jehi, Lara; Kälviäinen, Reetta; Kariuki, Symon M; Khoury, Jean; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Kurlemann, Gerhard; Labate, Angelo; Lacey, Austin; Lawthom, Charlotte; Leech, Stephanie L; Lemke, Johannes R; Lesca, Gaetan; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Licchetta, Laura; Lowenstein, Daniel H; Madia, Francesca; Magri, Stefania; McGraw, Christopher M; Mei, Davide; Millichap, John J; Minardi, Raffaella; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Nasreddine, Wassim; Neubauer, Bernd A; Newton, Charles R J C; O'Brien, Terence J; Özkara, Çiğdem; Papacostas, Savvas S; Parrini, Elena; Pendziwiat, Manuela; Pickrell, William O; Pinto, Dalila; Poduri, Annapurna; Ragona, Francesca; Rees, Mark I; Rheims, Sylvain; Riva, Antonella; Rojas, Enrique; Sammarra, Ilaria; Schankin, Christoph J; Scheffer, Ingrid E; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R; Sisodiya, Sanjay M; Sparks, Kathryn R; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Tanteles, George A; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Utkus, Algirdas; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Wagner, Ryan G; Weber, Yvonne G; Weckhuysen, Sarah; Wiebe, Samuel; Wolking, Stefan; von Wrede, Randi; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F
Brain.
Academic Journal
Defelippe, Victoria M.; Brilstra, Eva H.; Otte, Willem M.; Cross, Helen J.; O'Callaghan, Finbar; Giorgis, Valentina; Poduri, Annapurna; Lerche, Holger; Sisodiya, Sanjay; Braun, Kees P. J.; Jansen, Floor E.; Perucca, Emilio
Epilepsia. 65:3119-3137
Academic Journal
Rosa, Filip; Theiss, Stephan; Krepp, Susanne; Loeffler, Heidi; Mendis, Dulini C.; Klingenstein, Stefanie; Liebau, Stefan; Weckhuysen, Sarah; Alber, Michael; Petrou, Steven; Lerche, Holger; Maljevic, Snezana; Wuttke, Thomas V.
Neurobiology of Disease. 216
Academic Journal
Lauxmann, Stephan; Heuer, David; Heckelmann, Jan; Fischer, Florian; Schreiber, Melanie; Schriewer, Elisabeth; Widman, Guido; Weber, Yvonne; Lerche, Holger; Alber, Michael; Schuh-Hofer, Sigrid; Wolking, Stefan
J Neurol
Journal of neurology 271(10), 6596-6604 (2024). doi:10.1007/s00415-024-12510-1
Journal of neurology 271(10), 6596-6604 (2024). doi:10.1007/s00415-024-12510-1
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Academic Journal
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
Brain. 143(5):1447-1461
Academic Journal
Yang, Fang; Begemann, Anais; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Melanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clement; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P.; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H.C.; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita
Am J Hum Genet
The American journal of human genetics
The American journal of human genetics
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
Hang Lyu; Carolin Haag; Niklas Schwarz; Heidi Löffler; Ulrike A. Mau-Holzmann; Holger Lerche; Filip Rosa
Stem Cell Research, Vol 86, Iss , Pp 103737- (2025)
Academic Journal
Koko, Mahmoud; Elseed, Maha A.; Mohammed, Inaam N.; Hamed, Ahlam A.; Abd Allah, Amal S. I.; Yahia, Ashraf; Siddig, Rayan A.; Altmüller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O.; Amin, Mutaz; Ahmed, Elhami A.; Eltazi, Isra Z. M.; Elmugadam, Fatima A.; Abdelgadir, Wasma A.; Eltaraifee, Esraa; Ibrahim, Mohamed O. M.; Ali, Nabila M. H.; Malik, Hiba M.; Babai, Arwa M.; Bakhit, Yousuf H.; Nürnberg, Peter; Ibrahim, Muntaser E.; Salih, Mustafa A.; Schubert, Julian; Elsayed, Liena E. O.; Lerche, Holger
European Journal of Human Genetics. 32(10):1338-1342
Academic Journal
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Maria Stella; van Baalen, Andreas; Valton, Luc; Vaidiswaran, Priya; Utkus, Algirdas; Uğur-İşeri, Sibel; Turkdogan, Dilsad; Tumiene, Birute; Tsai, Meng-Han; Topaloglu, Pınar; Todaro, Marian; Tinuper, Paolo; Timpson, Nicholas John; Timonen, Oskari; Tanteles, George A.; Taneja, Randip S.; Talkowski, Michael E.; Talarico, Mariagrazia; Suzuki, Toshimitsu; Surges, Rainer; Strzelczyk, Adam; Striano, Pasquale; Stipa, Carlotta; Stewart, William C.; Štěrbová, Katalin; Stephani, Ulrich; Steinhoff, Bernhard J.; Stamberger, Hannah; Sperling, Michael R.; Sparks, Kathryn R.; Spalletta, Gianfranco; Solomonson, Matthew; Smoller, Jordan W.; Sisodiya, Sanjay M.; Sills, Graeme J.; Siena, S. Anthony; Shiedley, Beth R.; Sham, Pak C.; Shain, Catherine; Sedláčková, Lucie; Scudieri, Paolo; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schneider, Natascha; Scheffer, Ingrid E.; Schankin, Christoph J.; Schaller, André; Schachter, Steven; Scala, Marcello; Sammarra, Ilaria; Salpietro, Vincenzo; Salmon, Andrea; Salman, Barış; Sadleir, Lynette G.; Saarela, Anni; Ryvlin, Philippe; Rosenow, Felix; Rojas, Enrique; Riva, Antonella; Ring, Susan M.; Rheims, Sylvain; Reinthaler, Eva; Reif, Andreas; Regan, Brigid M.; Rees, Mark I.; Raynes, Hillary R.; Rau, Sarah; Ramirez-Hamouz, Byron; Ragona, Francesca; Rademacher, Annika; Privitera, Michael; Powell, Robert H. W.; Posthuma, Danielle; Pondrelli, Federica; Poduri, Annapurna; Piras, Federica; Piras, Fabrizio; Pippucci, Tommaso; Pinto, Dalila; Pinsky, Rebecca; Pickrell, William O.; Petrovski, Slavé; Pennell, Page B.; Pendziwiat, Manuela; Pato, Michele; Pato, Carlos; Parrini, Elena; Papacostas, Savvas S.; Palotie, Aarno; Özkara, Çiğdem; Owusu-Agyei, Seth; O’Brien, Terence J.; Novod, Sam; Northstone, Kate; Noebels, Jeffrey L.; Newton, Charles R. J. C.; Neubauer, Bernd A.; Neaves, Samuel; Nasreddine, Wassim; Najm, Imad M.; Müller-Schlüter, Karen; Muhle, Hiltrud; Muccioli, Lorenzo; Mostacci, Barbara; Montomoli, Martino; Minardi, Raffaella; Millichap, John J.; Michel, Véronique; Mei, Davide; Meador, Kimford J.; McQuillan, Andrew; McIntosh, Andrew; McGraw, Christopher M.; McGoldrick, Patricia; McCarroll, Steven M.; McArdle, Wendy; Mayer, Thomas; May, Patrick; Matthews, Abigail G.; Marson, Anthony G.; Marques, Paula; Marcuse, Lara; Maillard, Louis; Magri, Stefania; Madia, Francesca; Madeleyn, Rene; Macedo-Souza, Lucia Inês; Lui, Colin H. 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Millevert, Charissa; Kan, Anthony Sze Hon; Hanke, Moritz; Koko, Mahmoud; Omidvar, Maryam Erfanian; Hedrich, Ulrike B. S.; Wuttke, Thomas, V; Barisic, Nina; Lagae, Lieven; Aledo-Serrano, Angel; Niehoff, Eva-Maria; Platzer, Konrad; Zacher, Pia; Polster, Tilman; Dilena, Robertino; Monfrini, Edoardo; Genevieve, David; Roubertie, Agathe; Bruel, Ange-Line; Mau-Them, Frederic Tran; Dasouki, Majed; Cohen, Stacey; Helbig, Ingo; Harrison, Alicia G.; Ellis, Collin; Dubbs, Holly A.; Marsh, Eric D.; Lebon, Sebastien; He, Na; Meng, Heng; Chebib, Mary; Moller, Rikke S.; Marini, Carla; Ahring, Philip K.; Lerche, Holger; Weckhuysen, Sarah
Academic Journal
Naros, Georgios, Dr.; Machetanz, Kathrin, Dr.; Ethofer, Silke, Dr.; Wuttke, Thomas, Dr.; Liebe, Stefanie, Dr.; Tatagiba, Marcos, Prof. Dr.; Lerche, Holger, Prof. Dr.; Honegger, Jürgen, Prof. Dr.
Brain and Spine. 5
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