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| | Publication Year | Title | Author(s) |
| 501 | 1-Apr-2021 | Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. | Courage, Carolina; Oliver, Karen L; Park, Eon Joo; Cameron, Jillian M ; Grabińska, Kariona A; Muona, Mikko; Canafoglia, Laura; Gambardella, Antonio; Said, Edith; Afawi, Zaid; Baykan, Betul; Brandt, Christian; di Bonaventura, Carlo; Chew, Hui Bein; Criscuolo, Chiara; Dibbens, Leanne M; Castellotti, Barbara; Riguzzi, Patrizia; Labate, Angelo; Filla, Alessandro; Giallonardo, Anna T; Berecki, Geza; Jackson, Christopher B; Joensuu, Tarja; Damiano, John A; Kivity, Sara; Korczyn, Amos; Palotie, Aarno; Striano, Pasquale; Uccellini, Davide; Giuliano, Loretta; Andermann, Eva; Scheffer, Ingrid E ; Michelucci, Roberto; Bahlo, Melanie; Franceschetti, Silvana; Sessa, William C; Berkovic, Samuel F ; Lehesjoki, Anna-Elina |
| 502 | 16-May-1993 | Progressive myoclonus epilepsies: clinical and genetic aspects. | Berkovic, Samuel F ; Cochius, J; Andermann, Eva; Andermann, Frederick |
| 503 | 1-Jul-1991 | Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis. | Berkovic, Samuel F ; So, N K; Andermann, Frederick |
| 504 | 12-Nov-2021 | Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. | Canafoglia, Laura; Franceschetti, Silvana; Gambardella, Antonio; Striano, Pasquale; Giallonardo, Anna Teresa; Tinuper, Paolo; Di Bonaventura, Carlo; Michelucci, Roberto; Ferlazzo, Edoardo; Granata, Tiziana; Magaudda, Adriana; Licchetta, Laura; Filla, Alessandro; La Neve, Angela; Riguzzi, Patrizia; Cantisani, Teresa Anna; Fanella, Martina; Castellotti, Barbara; Gellera, Cinzia; Bahlo, Melanie; Zara, Federico; Courage, Carolina; Lehesjoki, Anna-Elina; Oliver, Karen L; Berkovic, Samuel F |
| 505 | Feb-2021 | Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS. | Mazzola, Laure; Oliver, Karen L; Labalme, Audrey; Baykan, Betül; Muona, Mikko; Joensuu, Tarja H; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F ; Lehesjoki, Anna-Elina; Lesca, Gaetan |
| 506 | Dec-2020 | Protocol for a single patient therapy plan: A randomised, double-blind, placebo-controlled N-of-1 trial to assess the efficacy of cannabidiol in patients with intractable epilepsy. | Ong, Katherine S; Carlin, John B; Fahey, Michael; Freeman, Jeremy L; Scheffer, Ingrid E ; Gillam, Lynn; Anderson, Monique; Huque, Md Hamidul; Legge, Donna; Dirnbauer, Nicole; Lilley, Brian; Slota-Kan, Simon; Cranswick, Noel |
| 507 | 6-Dec-2021 | Protocol summary and statistical analysis plan for the Targeted Therapeutic Mild Hypercapnia after Resuscitated Cardiac Arrest (TAME) trial. | Nichol, Alistair; Bellomo, Rinaldo ; Ady, Bridget; Nielsen, Niklas; Hodgson, Carol; Parke, Rachael; McGuinness, Shay; Skrifvars, Markus; Stub, Dion; Bernard, Stephen; Taccone, Fabio; Archer, John S ; Neto, Ary Serpa; Trapani, Tony; Ainscough, Kate; Hunt, Anna; Kutsogiannis, Jim; Eastwood, Glenn M |
| 508 | 15-Oct-2018 | Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. | Myers, Kenneth A; Davey, Margot J; Ching, Michael ; Ellis, Colin; Grinton, Bronwyn E; Roten, Annie ; Lightfoot, Paul A ; Scheffer, Ingrid E |
| 509 | Jul-2022 | A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome. | Striano, Pasquale; Auvin, Stéphane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E ; Tzadok, Michal; Miller, Ian; Kay Koenig, Mary; Lacy, Adrian; Davis, Ronald; Garcia-Cazorla, Angela; Saneto, Russell P; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl |
| 510 | 19-Dec-2022 | Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy. | Perucca, Piero ; Stanley, Kate; Harris, Natasha; McIntosh, Anne M ; Asadi-Pooya, Ali A; Mikati, Mohamad A; Andrade, Danielle M; Dugan, Patricia; Depondt, Chantal; Choi, Hyunmi; Heinzen, Erin L; Cavalleri, Gianpiero L; Buono, Russell J; Devinsky, Orrin; Sperling, Michael R; Berkovic, Samuel F ; Delanty, Norman; Goldstein, David B; O'Brien, Terence J |
| 511 | Jun-2022 | Rare sudden unexpected death in epilepsy 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 |
| 512 | 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 |
| 513 | 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 |
| 514 | Mar-2017 | Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. | Perucca, Piero ; Scheffer, Ingrid E ; Harvey, A Simon; James, Paul A; Lunke, Sebastian; Thorne, Natalie; Gaff, Clara; Regan, Brigid M; Damiano, John A; Hildebrand, Michael S ; Berkovic, Samuel F ; O'Brien, Terence J; Kwan, Patrick |
| 515 | 2019 | Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. | Cowley, Mark J; Liu, Yu-Chi; Oliver, Karen L; Carvill, Gemma; Myers, Candace T; Gayevskiy, Velimir; Delatycki, Martin B ; Vlaskamp, Danique R M; Zhu, Ying; Mefford, Heather; Buckley, Michael F; Bahlo, Melanie; Scheffer, Ingrid E ; Dinger, Marcel E; Roscioli, Tony |
| 516 | 6-Mar-2013 | Recent advances in the molecular genetics of epilepsy. | Hildebrand, Michael S ; Dahl, Hans-Henrik M; Damiano, John Anthony; Smith, Richard J H; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 517 | 30-Apr-2019 | Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. | Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S ; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E ; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Winkelmann, Juliane |
| 518 | 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 |
| 519 | 17-Nov-2014 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | Muona, Mikko; Berkovic, Samuel F ; Dibbens, Leanne M; Oliver, Karen L; Maljevic, Snezana; Bayly, Marta A; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E; Hildebrand, Michael S ; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E ; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D; Ozkara, Cigdem; Andrade, Danielle M; Engelsen, Bernt A; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, João; Privitera, Michael; Espay, Alberto J; Kauffmann, Birgit; Duchowny, Michael; Møller, Rikke S; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E; Daly, Mark J; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina |
| 520 | 17-Apr-2014 | Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. | Reid, Christopher A; Leaw, Bryan; Richards, Kay L; Richardson, Robert; Wimmer, Verena; Yu, Christiaan; Hill-Yardin, Elisa L; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven |
