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| | Publication Year | Title | Author(s) |
| 81 | 2022 | A family study implicates GBE1 in the etiology of autism spectrum disorder. | Fanjul-Fernández, Miriam; Brown, Natasha J; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P; Eichler, Evan E; Delatycki, Martin B ; Wilson, Sarah J; Bahlo, Melanie; Scheffer, Ingrid E ; Lockhart, Paul J |
| 82 | 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 |
| 83 | 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 |
| 84 | 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 |
| 85 | 2022 | Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. | Bennett, Mark F ; Hildebrand, Michael S ; Kayumi, Sayaka; Corbett, Mark A; Gupta, Sachin; Ye, Zimeng; Krivanek, Michael; Burgess, Rosemary; Henry, Olivia J; Damiano, John A; Boys, Amber; Gécz, Jozef; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 86 | 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 |
| 87 | 9-Dec-2021 | Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome. | Green, Timothy E; MacGregor, Duncan; Carden, Susan M; Harris, Rebekah V; Hewitt, Chelsee A; Berkovic, Samuel F ; Penington, Anthony J; Scheffer, Ingrid E ; Hildebrand, Michael S |
| 88 | 3-Dec-2021 | Letter to the Editor. | Cooney, Hannah C; Fleming, Catriona; Scheffer, Ingrid E |
| 89 | Nov-2021 | Dravet syndrome: A quick transition guide for the adult neurologist. | Andrade, Danielle M; Berg, Anne T; Hood, Veronica; Knupp, Kelly G; Koh, Sookyong; Laux, Linda; Meskis, Mary Anne; Miller, Ian; Perry, M Scott; Scheffer, Ingrid E ; Sullivan, Joseph; Villas, Nicole; Wirrell, Elaine |
| 90 | 9-Sep-2021 | Epidemiology of Treated Epilepsy in New Zealand Children: A Focus on Ethnicity. | Ali, Shayma; Stanley, James; Davis, Suzanne; Keenan, Ngaire; Scheffer, Ingrid E ; Sadleir, Lynette Grant |
| 91 | Sep-2021 | Post-ictal psychosis in epilepsy: A clinico-genetic study. | Braatz, Vera; Martins Custodio, Helena; Leu, Costin; Agro, Luigi; Wang, Baihan; Calafato, Stella; Rayner, Genevieve ; Doyle, Michael G; Hengsbach, Christian; Bisulli, Francesca; Weber, Yvonne G; Gambardella, Antonio; Delanty, Norman; Cavalleri, Gianpiero; Foong, Jacqueline; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bramon, Elvira; Balestrini, Simona; Sisodiya, Sanjay M |
| 92 | 18-Aug-2021 | Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial. | Scheffer, Ingrid E ; Halford, Jonathan J; Miller, Ian; Nabbout, Rima; Sanchez-Carpintero, Rocio; Shiloh-Malawsky, Yael; Wong, Matthew; Zolnowska, Marta; Checketts, Daniel; Dunayevich, Eduardo; Devinsky, Orrin |
| 93 | 17-Aug-2021 | Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy. | Bleakley, Lauren E; McKenzie, Chaseley E; Soh, Ming S; Forster, Ian C; Pinares-Garcia, Paulo; Sedo, Alicia; Kathirvel, Anirudh; Churilov, Leonid ; Jancovski, Nikola; Maljevic, Snezana; Berkovic, Samuel F ; Scheffer, Ingrid E ; Petrou, Steven; Santoro, Bina; Reid, Christopher A |
| 94 | Aug-2021 | Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. | Pham, Duyen H; Pitman, Melissa R; Kumar, Raman; Jolly, Lachlan A; Schulz, Renee; Gardner, Alison E; de Nys, Rebekah; Heron, Sarah E; Corbett, Mark A; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L; Halliday, Benjamin J; Robertson, Stephen P; Regan, Brigid M; Kirsch, Heidi E; Berkovic, Samuel F ; Scheffer, Ingrid E ; Pitson, Stuart M; Petrovski, Slave; Gecz, Jozef |
| 95 | 29-Jun-2021 | Pathogenic MAST3 variants in the STK domain are associated with epilepsy. | Spinelli, Egidio; Christensen, Kyle R; Bryant, Emily; Schneider, Amy L ; GenCouns, M; Rakotomamonjy, Jennifer; Muir, Alison M; Giannelli, Jessica; Littlejohn, Rebecca O; Roeder, Elizabeth R; Schmidt, Berkley; Wilson, William G; Marco, Elysa J; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H; van Jaarsveld, Richard H; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W ; Andrews, P Ian; El Achkar, Christelle M; Berkovic, Sam; Rodan, Lance H; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E ; Mefford, Heather C; Mandelstam, Simone; Laux, Linda; Millichap, John J; Guemez-Gamboa, Alicia; Nairn, Angus C; Carvill, Gemma L |
| 96 | 22-Jun-2021 | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møller, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E ; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo |
| 97 | 9-Jun-2021 | Severe speech impairment is a distinguishing feature of FOXP1-related disorder. | Braden, Ruth O; Amor, David J; Fisher, Simon E; Mei, Cristina; Myers, Candace T; Mefford, Heather; Gill, Deepak; Srivastava, Siddharth; Swanson, Lindsay C; Goel, Himanshu; Scheffer, Ingrid E ; Morgan, Angela T |
| 98 | Jun-2021 | The Australian Academy of Health and Medical Sciences: an authoritative, independent voice in the Australian landscape. | Scheffer, Ingrid E ; Frazer, Ian H |
| 99 | 18-May-2021 | Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP. | Soh, Ming S; Bagnall, Richard D; Bennett, Mark F ; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Marie Phillips, A; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael S ; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 20 | 4-May-2021 | Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. | Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F ; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S ; Corbett, Mark A; Scheffer, Ingrid E ; Gécz, Jozef; Berkovic, Samuel F |
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2
0
20
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false
0000-0002-2311-2174