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| | Publication Year | Title | Author(s) |
| 81 | 28-May-2022 | An Integrated Multi-Omic Network Analysis Identifies Seizure-Associated Dysregulated Pathways in the GAERS Model of Absence Epilepsy. | Harutyunyan, Anna; Chong, Debbie; Li, Rui; Shah, Anup D; Ali, Zahra; Huang, Cheng; Barlow, Christopher K; Perucca, Piero ; O'Brien, Terence J; Jones, Nigel C; Schittenhelm, Ralf B; Anderson, Alison; Casillas-Espinosa, Pablo M |
| 82 | 6-May-2022 | Genetic factors and shared environment contribute equally to objective singing ability. | Yeom, Daniel; Tan, Yi Ting; Haslam, Nick; Mosing, Miriam A; Yap, Valerie M Z; Fraser, Trisnasari; Hildebrand, Michael S ; Berkovic, Samuel F ; McPherson, Gary E; Peretz, Isabelle; Wilson, Sarah J |
| 83 | May-2022 | CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. | Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andrée; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W; Heron, Delphine; Hildebrand, Michael S ; Lesca, Gaëtan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A; Morgan, Angela T; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David |
| 84 | 29-Apr-2022 | UNC13B and focal epilepsy. | Green, Timothy E; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 85 | 18-Apr-2022 | Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. | Skotte, Line; Fadista, João; Bybjerg-Grauholm, Jonas; Appadurai, Vivek; Hildebrand, Michael S ; Hansen, Thomas F; Banasik, Karina; Grove, Jakob; Albiñana, Clara; Geller, Frank; Bjurström, Carmen F; Vilhjálmsson, Bjarni J; Coleman, Matthew; Damiano, John A; Burgess, Rosemary; Scheffer, Ingrid E ; Pedersen, Ole Birger Vesterager; Erikstrup, Christian; Westergaard, David; Nielsen, Kaspar René; Sørensen, Erik; Bruun, Mie Topholm; Liu, Xueping; Hjalgrim, Henrik; Pers, Tune H; Mortensen, Preben Bo; Mors, Ole; Nordentoft, Merete; Dreier, Julie W; Børglum, Anders D; Christensen, Jakob; Hougaard, David M; Buil, Alfonso; Hviid, Anders; Melbye, Mads; Ullum, Henrik; Berkovic, Samuel F ; Werge, Thomas; Feenstra, Bjarke |
| 86 | 9-Apr-2022 | Rare SUDEP SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. | Soh, Ming S; Bagnall, Richard D; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 87 | 21-Mar-2022 | Self-reported impact of developmental stuttering across the lifespan. | Boyce, Jessica O; Jackson, Victoria E; van Reyk, Olivia; Parker, Richard; Vogel, Adam P; Eising, Else; Horton, Sarah E; Gillespie, Nathan A; Scheffer, Ingrid E ; Amor, David J; Hildebrand, Michael S ; Fisher, Simon E; Martin, Nicholas G; Reilly, Sheena; Bahlo, Melanie; Morgan, Angela T |
| 88 | 15-Mar-2022 | Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. | Brunklaus, Andreas; Pérez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Møller, Rikke S; Nabbout, Rima; Regan, Brigid M; Schneider, Amy L ; Scheffer, Ingrid E ; Schoonjans, An-Sofie; Symonds, Joseph D; Weckhuysen, Sarah; Kattan, Michael W; Zuberi, Sameer M; Lal, Dennis |
| 89 | 10-Mar-2022 | Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report. | Mckenzie, Chaseley E; Ho, Chen-Jui; Forster, Ian C; Soh, Ming S; Phillips, A Marie; Chang, Ying-Chao; Scheffer, Ingrid E ; Reid, Christopher A; Tsai, Meng-Han |
| 90 | Mar-2022 | Diagnostic delay in focal epilepsy: Association with brain pathology and age. | Yang, Mengjiazhi; Tan, K Meng; Carney, Patrick W ; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F ; Perucca, Piero ; McIntosh, Anne M |
| 91 | Mar-2022 | Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. | Green, Timothy E; Schimmel, Mareike; Schubert, Susanna; Lemke, Johannes R; Bennett, Mark F ; Hildebrand, Michael S ; Berkovic, Samuel F |
| 92 | Feb-2022 | Lightning progress in child neurology in the past 20 years. | Scheffer, Ingrid E |
| 93 | Jan-2022 | Respiratory syncytial virus epidemic during the COVID-19 pandemic. | Cooney, Hannah C; Fleming, Catriona; Scheffer, Ingrid E |
| 94 | 2022 | Machine Learning Approaches for Imaging-Based Prognostication of the Outcome of Surgery for Mesial Temporal Lobe Epilepsy. | Sinclair, Benjamin; Cahill, Varduhi; Seah, Jarrel; Kitchen, Andy; Vivash, Lucy E; Chen, Zhibin; Malpas, Charles B; O'Shea, Marie F ; Desmond, Patricia M; Hicks, Rodney J; Morokoff, Andrew P; King, James A; Fabinyi, Gavin C ; Kaye, Andrew H; Kwan, Patrick; Berkovic, Samuel F ; Law, Meng; O'Brien, Terence J |
| 95 | 2022 | Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti-seizure medications. | Mullan, Kerry A; Anderson, Alison; Shi, Yi-Wu; Ding, Jia-Hong; Ng, Ching-Ching; Chen, Zhibin; Baum, Larry; Cherny, Stacey; Petrovski, Slave; Sham, Pak C; Lim, Kheng-Seang; Liao, Wei-Ping; Kwan, Patrick |
| 96 | 2022 | PIGN encephalopathy: Characterizing the epileptology. | Bayat, Allan; de Valles-Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick W ; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S ; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P A; Stumpel, Constance T; Szczepanik, Elzbieta; Terczyńska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E ; Møller, Rikke S; Sadleir, Lynette G |
| 97 | 2022 | Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies. | Myers, Kenneth A; Scheffer, Ingrid E |
| 98 | 2022 | COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences. | Hood, Veronica; Berg, Anne T; Knupp, Kelly G; Koh, Sookyong; Laux, Linda; Meskis, Mary Anne; Zulfiqar-Ali, Quratulain; Perry, M Scott; Scheffer, Ingrid E ; Sullivan, Joseph; Wirrell, Elaine; Andrade, Danielle M |
| 99 | 2022 | Infantile-onset Myoclonic Developmental and Epileptic Encephalopathy: a new RARS2 phenotype. | de Valles-Ibáñez, Guillem; Hildebrand, Michael S ; Bahlo, Melanie; King, Chontelle; Coleman, Matthew; Green, Timothy E; Goldsmith, John; Davis, Suzanne; Gill, Deepak; Mandelstam, Simone; Scheffer, Ingrid E ; Sadleir, Lynette G |
| 100 | 2022 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Stephenson, Sarah E M; Costain, Gregory; Blok, Laura E R; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z; Björnsson, Hans Tómas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew J ; Jansen, Sandra; Weisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M; Ascher, David B; Schenck, Annette; Lockhart, Paul J; Christodoulou, John; Tan, Tiong Yang; Rodan, Lance H; Schwartz, Marc A; Picker, Jonathan; Lynch, Sally A; Gupta, Aditi; Rasmussen, Kristen J; Schimmenti, Lisa A; Klee, Eric W; Niu, Zhiyv; Agre, Katherine E; Chilton, Ilana; Chung, Wendy K; Revah-Politi, Anya; Au, P Y Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-Line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E L; Zhu, Ying; Baker, Joshua J; Scheffer, Ingrid E ; Gardiner, Fiona J; Schneider, Amy L ; Muir, Alison M; Mefford, Heather C; Crunk, Amy; Heise, Elizabeth M; Millan, Francisca; Monaghan, Kristin G; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M; Cogné, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J; Boyce, Jessica O; Morgan, Angela T; Hildebrand, Michael S ; Kaspi, Antony; Bahlo, Melanie; Friðriksdóttir, Rún; Katrínardóttir, Hildigunnur; Sulem, Patrick; Stefánsson, Kári |
