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| | Publication Year | Title | Author(s) |
| 1 | 13-Feb-2024 | Idiopathic Generalized Epilepsy. | Devinsky, Orrin; Elder, Christopher; Sivathamboo, Shobi; Scheffer, Ingrid E ; Koepp, Matthias J |
| 2 | 30-Jan-2024 | Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. | Morison, Lottie D; Kennis, Milou G P; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddharth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David J; Scheffer, Ingrid E ; Kleefstra, Tjitske; Morgan, Angela T |
| 3 | 27-Jan-2024 | Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. | de Nys, Rebekah; van Eyk, Clare L; Ritchie, Tarin; Møller, Rikke S; Scheffer, Ingrid E ; Marini, Carla; Bhattacharjee, Rudrarup; Kumar, Raman; Gecz, Jozef |
| 4 | 4-Jan-2024 | A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E ; Carvill, Gemma L; Mefford, Heather; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan |
| 5 | 2024 | Exploring individual fixel-based white matter abnormalities in epilepsy. | Mito, Remika; Pedersen, Mangor; Pardoe, Heath; Parker, Donna; Smith, Robert E; Cameron, Jillian M ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Vaughan, David N; Jackson, Graeme D |
| 6 | 22-Dec-2023 | Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicentre retrospective cohort study. | Nightscales, Russell ; Chen, Zhibin; Barnard, Sarah; Auvrez, Clarissa; Tao, Gerard; Sivathamboo, Shobi; Bennett, Caitlin; Rychkova, Maria; D'Souza, Wendyl; Berkovic, Samuel F ; Nicolo, John-Paul; O'Brien, Terence J; Perucca, Piero ; Scheffer, Ingrid E ; Kwan, Patrick |
| 7 | 13-Dec-2023 | Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing. | Coppola, Antonietta; Krithika, S; Iacomino, Michele; Bobbili, Dheeraj; Balestrini, Simona; Bagnasco, Irene; Bilo, Leonilda; Buti, Daniela; Casellato, Susanna; Cuccurullo, Claudia; Ferlazzo, Edoardo; Leu, Costin; Giordano, Lucio; Gobbi, Giuseppe; Hernandez-Hernandez, Laura; Lench, Nick; Martins, Helena; Meletti, Stefano; Messana, Tullio; Nigro, Vincenzo; Pinelli, Michele; Pippucci, Tommaso; Bellampalli, Ravishankara; Salis, Barbara; Sofia, Vito; Striano, Pasquale; Striano, Salvatore; Tassi, Laura; Vignoli, Aglaia; Vaudano, Anna Elisabetta; Viri, Maurizio; Scheffer, Ingrid E ; May, Patrick; Zara, Federico; Sisodiya, Sanjay M |
| 8 | 5-Dec-2023 | Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering. | Horton, Sarah; Jackson, Victoria; Boyce, Jessica; Franken, Marie-Christine; Siemers, Stephanie; John, Miya St; Hearps, Stephen; van Reyk, Olivia; Braden, Ruth; Parker, Richard; Vogel, Adam P; Eising, Else; Amor, David J; Irvine, Janelle; Fisher, Simon E; Martin, Nicholas G; Reilly, Sheena; Bahlo, Melanie; Scheffer, Ingrid E ; Morgan, Angela |
| 9 | 4-Dec-2023 | Severe Communication Delays Are Independent of Seizure Burden and Persist Despite Contemporary Treatments in SCN1A+ Dravet Syndrome: Insights from the ENVISION Natural History Study. | Perry, M Scott; Scheffer, Ingrid E ; Sullivan, Joseph; Brunklaus, Andreas; Boronat, Susana; Wheless, James W; Laux, Linda; Patel, Anup D; Roberts, Colin M; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly G; Lallas, Matt; Phillips, Steven; Segal, Eric; Smeyers, Patricia; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Brünger, Tobias; Wojnaroski, Mary; Maru, Benit; O'Donnell, Penrose; Morton, Magda; James, Emma; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S; Rico, Salvador |
| 10 | 1-Dec-2023 | Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. | Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; Burrows, Emma L; Bennett, Mark F ; Turner, Samantha J; Reilly, Sheena; Horton, Sarah E; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A; Featherby, Travis J; Richards, Kay L; Kueh, Andrew; Herold, Marco J; Corbett, Mark A; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G Y; Liégeois, Frédérique J; Morell, Robert J; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E ; Wright, David K; Bahlo, Melanie; Hildebrand, Michael S |
| 11 | 30-Nov-2023 | Endophenotyping social cognition in the broader autism phenotype. | Pua, Emmanuel Peng Kiat; Desai, Tarishi; Green, Cherie; Trevis, Krysta; Brown, Natasha; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah |
| 12 | 7-Nov-2023 | Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies. | Van Der Veen, Sterre; Tse, Gabrielle T ; Ferretti, Alessandro; Garone, Giacomo; Post, Bart; Specchio, Nicola; Fung, Victor Sc; Trivisano, Marina; Scheffer, Ingrid E |
| 13 | Nov-2023 | Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture. | Harris, Rebekah V; Oliver, Karen L; Perucca, Piero ; Striano, Pasquale; Labate, Angelo; Riva, Antonella; Grinton, Bronwyn E; Reid, Joshua; Hutton, Jessica; Todaro, Marian; O'Brien, Terence J; Kwan, Patrick; Sadleir, Lynette G; Mullen, Saul A ; Dazzo, Emanuela; Crompton, Douglas E; Scheffer, Ingrid E ; Bahlo, Melanie; Nobile, Carlo; Gambardella, Antonio; Berkovic, Samuel F |
| 14 | 22-Oct-2023 | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 15 | 1-Sep-2023 | Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. | Martins Custodio, Helena; Clayton, Lisa M; Bellampalli, Ravishankara; Pagni, Susanna; Silvennoinen, Katri; Caswell, Richard; Brunklaus, Andreas; Guerrini, Renzo; Koeleman, Bobby P C; Lemke, Johannes R; Møller, Rikke S; Scheffer, Ingrid E ; Weckhuysen, Sarah; Zara, Federico; Zuberi, Sameer; Kuchenbaecker, Karoline; Balestrini, Simona; Mills, James D; Sisodiya, Sanjay M |
| 16 | Sep-2023 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid E ; Schneider, Amy L ; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette |
| 17 | Sep-2023 | Indications and prescribing patterns of antiseizure medications in children in New Zealand. | Ali, Shayma; Stanley, James; Davis, Suzanne; Keenan, Ngaire; Scheffer, Ingrid E ; Sadleir, Lynette G |
| 18 | Sep-2023 | Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. | D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole S Y; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E ; Chau, Vann; Costain, Gregory; Poduri, Annapurna; Howell, Katherine B; McTague, Amy |
| 19 | 8-Aug-2023 | Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene. | Ovchinnikov, D A; Jong, S; Cuddy, C; Scheffer, Ingrid E ; Maljevic, S; Petrou, S |
| 20 | 6-Aug-2023 | Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial. | Sullivan, Joseph; Lagae, Lieven; Cross, J Helen; Devinsky, Orrin; Guerrini, Renzo; Knupp, Kelly G; Laux, Linda; Nikanorova, Marina; Polster, Tilman; Talwar, Dinesh; Ceulemans, Berten; Nabbout, Rima; Farfel, Gail M; Galer, Bradley S; Gammaitoni, Arnold R; Lock, Michael; Agarwal, Anupam; Scheffer, Ingrid E |
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0000-0002-2311-2174