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| | Publication Year | Title | Author(s) |
| 501 | 16-Jun-2004 | Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? | Taylor, Isabella; Marini, Carla; Johnson, Michael R; Turner, Samantha J; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 502 | 19-Jan-2018 | KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. | Myers, Kenneth A; McGlade, Amelia; Neubauer, Bernd A; Lal, Dennis; Berkovic, Samuel F ; Scheffer, Ingrid E ; Hildebrand, Michael S |
| 503 | 1-Jan-2019 | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. | Berkovic, Samuel F ; Oliver, Karen L; Canafoglia, Laura; Krieger, Penina; Damiano, John A; Hildebrand, Michael S ; Morbin, Michela; Vears, Danya F; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M; Franceschetti, Silvana; Carpenter, Stirling |
| 504 | 5-May-2011 | Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. | Arsov, Todor; Smith, Katherine R; Damiano, John Anthony; Franceschetti, Silvana; Canafoglia, Laura; Bromhead, Catherine J; Andermann, Eva; Vears, Danya F; Cossette, Patrick; Rajagopalan, Sulekha; McDougall, Alan; Sofia, Vito; Farrell, Michael; Aguglia, Umberto; Zini, Andrea; Meletti, Stefano; Morbin, Michela; Mullen, Saul A ; Andermann, Frederick; Mole, Sara E; Bahlo, Melanie; Berkovic, Samuel F |
| 505 | 1-Sep-2009 | Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma. | Crosbie, David C; Sugumar, Hariharan; Simpson, Marion A ; Walker, Susan P; Dewey, Helen M; Reade, Michael C |
| 506 | 5-Jun-2014 | Lennox-Gastaut syndrome and phenotype: secondary network epilepsies. | Archer, John S ; Warren, Aaron E L; Stagnitti, Monique R; Masterton, Richard A J; Abbott, David F ; Jackson, Graeme D |
| 507 | 1-Nov-2004 | Leonard Bell Cox (1894-1976)- pioneer of Australian Clinical neurology. | Bladin, Peter F ; Eadie, M; Wehener, V |
| 508 | Dec-2020 | Letter to the Editor: Seeking clarification regarding caseload constraints in modelling of thrombectomy service delivery. | Foo, Michelle ; Maingard, Julian; Kuan Kok, Hong; Jhamb, Ashu; Brooks, Mark; Barras, Christen; Thijs, Vincent N ; Asadi, Hamed |
| 509 | 11-Sep-2003 | Lifetime cost of stroke subtypes in Australia: findings from the North East Melbourne Stroke Incidence Study (NEMESIS). | Dewey, Helen M; Thrift, Amanda G; Mihalopoulos, Cathy; Carter, Robert; Macdonell, Richard A L ; McNeil, John J; Donnan, Geoffrey A |
| 510 | 1-Sep-1989 | Limbic P3 potentials, seizure localization, and surgical pathology in temporal lobe epilepsy. | Puce, Aina; Kalnins, Renate M; Berkovic, Samuel F ; Donnan, Geoffrey A ; Bladin, Peter F |
| 511 | 1-Mar-1993 | Localised neuronal migration disorder and intractable epilepsy: a prenatal vascular aetiology. | Reutens, David C; Berkovic, Samuel F ; Kalnins, Renate M; McKelvie, P; Saling, Michael M ; Fabinyi, Gavin C |
| 512 | 1-Nov-1989 | Localization of epileptic foci with postictal single photon emission computed tomography. | Rowe, Christopher C ; Berkovic, Samuel F ; Sia, S T; Austin, M; McKay, W J; Kalnins, Renate M; Bladin, Peter F |
| 513 | 1-Apr-2001 | The longitudinal course of adjustment after seizure surgery. | Wilson, Sarah J; Bladin, Peter F ; Saling, Michael M ; McIntosh, A M; Lawrence, J A |
| 514 | 6-Apr-2004 | Longitudinal study of MRS metabolites in Rasmussen encephalitis. | Wellard, R M; Briellmann, Regula S; Wilson, J C; Kalnins, Renate M; Anderson, D P; Federico, P; Fabinyi, Gavin C ; Scheffer, Ingrid E ; Harvey, A Simon; Jackson, Graeme D |
| 515 | 12-Feb-2019 | Looking beyond lesions for causes of neuropsychological impairment in epilepsy. | Rayner, Genevieve ; Tailby, Chris ; Jackson, Graeme D ; Wilson, Sarah J |
| 516 | 9-Dec-2015 | Loss of synaptic Zn2+ transporter function increases risk of febrile seizures | Hildebrand, Michael S ; Phillips, A Marie; Mullen, Saul A ; Adlard, Paul A; Hardies, Katia; Damiano, John A; Wimmer, Verena; Bellows, Susannah T; McMahon, Jacinta M; Burgess, Rosemary; Hendrickx, Rik; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Scheffer, Ingrid E ; Petrou, Steven; Berkovic, Samuel F ; Reid, Christopher A |
| 517 | 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 |
| 518 | Oct-2022 | Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. | Krüger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J; Weber, Yvonne G; Keo-Kosal, Pascale; Berkovic, Samuel F ; Hildebrand, Michael S ; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger |
| 519 | 7-Jan-2015 | Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease. | Peters, Judith; Rittger, Andrea; Weisner, Rebecca; Knabbe, Johannes; Zunke, Friederike; Rothaug, Michelle; Damme, Markus; Berkovic, Samuel F ; Blanz, Judith; Saftig, Paul; Schwake, Michael |
| 520 | 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 |
