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| | Publication Year | Title | Author(s) |
| 21 | 31-Jul-2023 | Aicardi Syndrome Is a Genetically Heterogeneous Disorder. | Ha, Thuong T; Burgess, Rosemary; Newman, Morgan; Moey, Ching; Mandelstam, Simone A; Gardner, Alison E; Ivancevic, Atma M; Pham, Duyen; Kumar, Raman; Smith, Nicholas; Patel, Chirag; Malone, Stephen; Ryan, Monique M; Calvert, Sophie; van Eyk, Clare L; Lardelli, Michael; Berkovic, Samuel F ; Leventer, Richard J; Richards, Linda J; Scheffer, Ingrid E ; Gecz, Jozef; Corbett, Mark A |
| 22 | Jul-2023 | Recognition and Epileptology of Protracted CLN3 Disease. | Cameron, Jillian M ; Damiano, John A; Grinton, Bronwyn; Carney, Patrick W ; McKelvie, Penny; Silbert, Peter; Lawn, Nicholas; Scheffer, Ingrid E ; Oliver, Karen L; Hildebrand, Michael S ; Berkovic, Samuel F |
| 23 | 1-Jun-2023 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | Khoshkhoo, Sattar; Wang, Yilan; Chahine, Yasmine; Erson-Omay, E Zeynep; Robert, Stephanie M; Kiziltug, Emre; Damisah, Eyiyemisi C; Nelson-Williams, Carol; Zhu, Guangya; Kong, Wenna; Huang, August Yue; Stronge, Edward; Phillips, H Westley; Chhouk, Brian H; Bizzotto, Sara; Chen, Ming Hui; Adikari, Thiuni N; Ye, Zimeng; Witkowski, Tom ; Lai, Dulcie; Lee, Nadine; Lokan, Julie ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Haider, Shozeb; Hildebrand, Michael S ; Yang, Edward; Gunel, Murat; Lifton, Richard P; Richardson, R Mark; Blümcke, Ingmar; Alexandrescu, Sanda; Huttner, Anita; Heinzen, Erin L; Zhu, Jidong; Poduri, Annapurna; DeLanerolle, Nihal; Spencer, Dennis D; Lee, Eunjung Alice; Walsh, Christopher A; Kahle, Kristopher T |
| 24 | May-2023 | The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies. | Scheffer, Ingrid E |
| 25 | May-2023 | WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk. | Oliver, Karen L; Trivisano, Marina; Mandelstam, Simone A; De Dominicis, Angela; Francis, David I; Green, Timothy E; Muir, Alison M; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A; Leventer, Richard J; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S ; Mefford, Heather C; Kaindl, Angela M; Specchio, Nicola; Scheffer, Ingrid E |
| 26 | May-2023 | The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants. | Sahly, Ahmed N; Srour, Myriam; Buhas, Daniela; Scheffer, Ingrid E ; Myers, Kenneth A |
| 27 | May-2023 | Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. | Francis, David I; Stark, Zornitza; Scheffer, Ingrid E ; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A ; Krzesinski, Emma I; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan |
| 28 | May-2023 | Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy. | McKenzie, Chaseley E; Forster, Ian C; Soh, Ming S; Phillips, A Marie; Bleakley, Lauren E; Russ-Hall, Sophie J; Myers, Kenneth A; Scheffer, Ingrid E ; Reid, Christopher A |
| 29 | 28-Mar-2023 | Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children. | Poke, Gemma; Stanley, James; Scheffer, Ingrid E ; Sadleir, Lynette G |
| 30 | 2-Mar-2023 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L; Goranitis, Ilias; Spurdle, Amanda B; Hansen, David P; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J; Scott, Hamish S; Thorne, Natalie; Ward, Robyn L; Dinger, Marcel E; Best, Stephanie; Long, Janet C; Grimmond, Sean M; Pearson, John; Waddell, Nicola; Barnett, Christopher P; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J; Lockhart, Paul J; Lunke, Sebastian; Mallett, Andrew J; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E ; Semsarian, Christopher; Simons, Cas; Thomas, David M; Thorburn, David R; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael Cj; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H; Christodoulou, John; North, Kathryn N |
| 31 | 22-Feb-2023 | Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy. | Zhao, Da; Pinares-Garcia, Paulo; McKenzie, Chaseley E; Bleakley, Lauren E; Forster, Ian C; Wong, Vickie H Y; Nguyen, Christine T O; Scheffer, Ingrid E ; Reid, Christopher A; Bui, Bang V |
| 32 | 8-Feb-2023 | Differential diagnosis of familial adult myoclonic epilepsy. | Baykan, Betul; Franceschetti, Silvana; Canafoglia, Laura; Cavalleri, Gianpiero L; Michelucci, Roberto; Scheffer, Ingrid E |
| 33 | 7-Feb-2023 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. | Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S ; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E ; Mefford, Heather C; Carvill, Gemma L |
| 34 | 7-Feb-2023 | Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies. | Donnan, Alice M; Schneider, Amy L ; Russ-Hall, Sophie; Churilov, Leonid ; Scheffer, Ingrid E |
| 35 | 24-Jan-2023 | Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome. | Howell, Katherine B; Butcher, Sophie; Schneider, Amy L ; Russ-Hall, Sophie; Muzarir, Pearl R; Kerr, Rachel; Overmars, Isabella; Hayman, Michael; Kornberg, Andrew J; Danchin, Margie; Crawford, Nigel W; Scheffer, Ingrid E |
| 36 | Jan-2023 | ANA Podcasts & Webinars: Genetics of Epilepsy. | Das, Rohit R; Goss, Adeline L; Scheffer, Ingrid E |
| 37 | Jan-2023 | Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment. | Bishop, Kim I; Isquith, Peter K; Gioia, Gerard A; Knupp, Kelly G; Scheffer, Ingrid E ; Nabbout, Rima; Specchio, Nicola; Sullivan, Joseph; Auvin, Stéphane; Helen Cross, J; Guerrini, Renzo; Farfel, Gail; Galer, Bradley S; Gammaitoni, Arnold R |
| 38 | 2023 | Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: interim analysis of an open-label extension study. | Knupp, Kelly G; Scheffer, Ingrid E ; Ceulemans, Berten; Sullivan, Joseph; Nickels, Katherine C; Lagae, Lieven; Guerrini, Renzo; Zuberi, Sameer M; Nabbout, Rima; Riney, Kate; Agarwal, Anupam; Lock, Michael; Dai, David; Farfel, Gail M; Galer, Bradley S; Gammaitoni, Arnold R; Polega, Shikha; Davis, Ronald; Gil-Nagel, Antonio |
| 39 | 2023 | Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. | Rafehi, Haloom; Green, Cherie; Bozaoglu, Kiymet; Gillies, Greta; Delatycki, Martin B ; Lockhart, Paul J; Scheffer, Ingrid E ; Bahlo, Melanie |
| 40 | 2023 | Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice. | Scheffer, Ingrid E ; Bennett, Caitlin A; Gill, Deepak; de Silva, Michelle G; Boggs, Kirsten; Marum, Justine; Baker, Naomi; Palmer, Elizabeth E; Howell, Katherine B |
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0000-0002-2311-2174