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Items: 1 to 20 of 38

1.
Arunan Selvarajah, Andrea Sabo, Carolina Gorodetsky, Paula T. Marques, Ilakkiah Chandran, Miles Thompson, Quratulain Zulfiqar Ali, Mary Pat McAndrews, Maria Carmela Tartaglia, Victor S. T. Lira, Linda Huh, Mary Connolly, Arezoo Rezazadeh, Farah Qaiser, Tadeu A. Fantaneanu, Monica Duong, Karen Barboza, Lysa Boissé Lomax, Luciana Inuzuka Nakaharada, Kette Valente, Jack Arbinuch, Mariana Espindola, Eliana Garzon, Gianluca Sorrento, Mary Anne Meskis, Nicole Villas, Veronica Hood, Marta Gonzalez, Elena Cardenal‐Muñoz, Jose Angel Aiba, Lauraine McKenna, Christine Linehan, Sophine Hohn, Stéphane Auvin, Orrin Devinsky, Ryan Yuen, Anne T. Berg, Babak Taati, Alfonso Fasano, Danielle M. Andrade
Epilepsia. 2025 Jun; 66(6): 1975–1987. Published online 2025 Mar 4. doi: 10.1111/epi.18329
PMCID:
PMC12169394
2.
Alissa M D'Gama, Sarah Mulhern, Beth R Sheidley, Fadil Boodhoo, Sarah Buts, Natalie J Chandler, Joanna Cobb, Meredith Curtis, Edward J Higginbotham, Jonathon Holland, Tayyaba Khan, Julia Koh, Nicole S Y Liang, Lyndsey McRae, Sarah E Nesbitt, Brandon T Oby, Ben Paternoster, Alistair Patton, Graham Rose, Elizabeth Scotchman, Rozalia Valentine, Kimberly N Wiltrout, Gene-STEPS Study Group, IPCHiP Executive Committee, Robin Z Hayeems, Puneet Jain, Sebastian Lunke, Christian R Marshall, Shira Rockowitz, Neil J Sebire, Zornitza Stark, Susan M White, Lyn S Chitty, J Helen Cross, Ingrid E Scheffer, Vann Chau, Gregory Costain, Annapurna Poduri, Katherine B Howell, Amy McTague
Lancet Neurol. 2023 Sep; 22(9): 812–825. doi: 10.1016/S1474-4422(23)00246-6
PMCID:
PMC11860300
3.
Rebecca Finnegan, Mary O'Regan, Máire White, Gianpiero L. Cavalleri, Norman Delanty, Katherine A. Benson, Marie T. Greally
Mol Genet Genomic Med. 2024 Sep; 12(9): e70010. Published online 2024 Sep 23. doi: 10.1002/mgg3.70010
PMCID:
PMC11418404
4.
Yen Thi My Nguyen, Bao-Quoc Vu, Duy-Khai Nguyen, Ngoc-Vinh Quach, Liem Thanh Bui, Jeonghan Hong, Chi-Bao Bui
Sci Rep. 2024; 14: 21606. Published online 2024 Sep 16. doi: 10.1038/s41598-024-72683-7
PMCID:
PMC11405402
5.
Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller
eBioMedicine. 2024 Aug; 106: 105236. Published online 2024 Jul 11. doi: 10.1016/j.ebiom.2024.105236
PMCID:
PMC11296288
6.
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad
Brain. 2024 Aug; 147(8): 2775–2790. Published online 2024 Mar 8. doi: 10.1093/brain/awae056
PMCID:
PMC11292905
7.
Alshaima’a M. Qunies, Brittany D. Spitznagel, Yu Du, Paul K. Peprah, Yasmeen K. Mohamed, C. David Weaver, Kyle A. Emmitte
Molecules. 2024 Jun; 29(11): 2437. Published online 2024 May 22. doi: 10.3390/molecules29112437
PMCID:
PMC11173529
8.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
9.
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
J Neurodev Disord. 2024; 16: 13. Published online 2024 Mar 27. doi: 10.1186/s11689-024-09528-x
PMCID:
PMC10967201
10.
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H. Stracker, Alfredo Brusco
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Feb; 59(2): 170–179. Published online 2020 Dec 15. doi: 10.1136/jmedgenet-2020-107281
PMCID:
PMC10631451
11.
Heather E. Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N. Moosa, Xiaoming Zhang, José R. Pérez-Pérez, Judy Weisenberg, Erin O’Connor Prange, Eric D. Marsh, Rajsekar R. Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle DeLeo, Lindsay Swanson, Jamie Love-Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri
Epilepsia.
Published in final edited form as: Epilepsia. 2023 Jul; 64(7): 1821–1832. Published online 2023 May 15. doi: 10.1111/epi.17630
PMCID:
PMC10524264
12.
Kim M. Thalwitzer, Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli, Sarah McKeown Ruggiero, Katie Rose Sullivan, Alexandre N. Datta, Christoph Kellinghaus, Jürgen Althaus, Adelheid Wiemer-Kruel, Andreas van Baalen, Armin Pampel, Michael Alber, Hilde M.H. Braakman, Otfried M. Debus, Jonas Denecke, Elke Hobbiebrunken, Ina Breitweg, Danielle Diehl, Hans Eitel, Janina Gburek-Augustat, Martin Preisel, Jan-Ulrich Schlump, Mirjam Laufs, Dilbar Mammadova, Carsten Wurst, Christine Prager, Christa Löhr-Nilles, Peter Martin, Sven F. Garbade, Konrad Platzer, Ira Benkel-Herrenbrueck, Kerstin Egler, Walid Fazeli, Johannes R. Lemke, Eva Runkel, Barbara Klein, Tobias Linden, Julian Schröter, Heike Steffeck, Bastian Thies, Florian von Deimling, Sabine Illsinger, Ingo Borggraefe, Georg Classen, Dagmar Wieczorek, Georgia Ramantani, Stefan Koelker, Georg F. Hoffmann, Markus Ries, Ingo Helbig, Steffen Syrbe
Neurology. 2023 Aug 29; 101(9): e879–e891. doi: 10.1212/WNL.0000000000207550
PMCID:
PMC10501093
13.
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K. Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne-Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G. Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
Eur J Hum Genet. 2023 Sep; 31(9): 1023–1031. Published online 2023 Jun 21. doi: 10.1038/s41431-023-01410-z
PMCID:
PMC10474045
14.
Congjie Chen, Ningning Chen, Li Xie, Yuanyuan Luo, Jiannan Ma, Tingsong Li
Epilepsia Open. 2023 Sep; 8(3): 1133–1141. Published online 2023 Jul 28. doi: 10.1002/epi4.12794
PMCID:
PMC10472363
15.
Miriam Kessi, Baiyu Chen, Li-Dan Shan, Ying Wang, Lifen Yang, Fei Yin, Fang He, Jing Peng, Guoli Wang
BMC Med Genomics. 2023; 16: 46. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01474-2
PMCID:
PMC9990233
16.
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Sep; 59(9): 878–887. Published online 2021 Oct 16. doi: 10.1136/jmedgenet-2021-107729
PMCID:
PMC9807242
17.
Jennifer A. Kearney, Letonia D. Copeland-Hardin, Samantha Duarte, Nicole A. Zachwieja, Isaiah K. Eckart-Frank, Nicole A. Hawkins
Mamm Genome. 2022; 33(4): 565–574. Published online 2022 May 23. doi: 10.1007/s00335-022-09955-y
PMCID:
PMC9616761
18.
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
eBioMedicine. 2022 Oct; 84: 104244. Published online 2022 Sep 9. doi: 10.1016/j.ebiom.2022.104244
PMCID:
PMC9471468
19.
Paras A Patel, Julia Hegert, Ingrid Cristian, Alicia Kerr, Leslie EW LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee
J Med Genet.
Published in final edited form as: J Med Genet. 2022 Nov; 59(11): 1044–1057. Published online 2022 Feb 11. doi: 10.1136/jmedgenet-2021-108115
PMCID:
PMC9365889
20.
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen
Neurology. 2022 Jul 19; 99(3): e221–e233. doi: 10.1212/WNL.0000000000200715
PMCID:
PMC9302932

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