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| | Publication Year | Title | Author(s) |
| 61 | 10-Apr-2019 | Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. | Gorman, Kathleen M; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J; Bryant, Emily; Reich, Adi; Schneider, Amy L ; Pressler, Ronit M; Simpson, Michael A; Debelle, Geoff D; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R; King, Mary D; Cross, J Helen; Poduri, Annapurna; Mefford, Heather C; Scheffer, Ingrid E ; Haack, Tobias B; McCullagh, Gary; Millichap, John J; Carvill, Gemma L; Clayton-Smith, Jill; Maher, Eamonn R; Raymond, F Lucy; Kurian, Manju A |
| 2 | 2018 | Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing. | Lopez, Jamie A; Noori, Tahereh; Minson, Adrian; Li Jovanoska, Lu; Thia, Kevin; Hildebrand, Michael S ; Akhlaghi, Hedieh; Darcy, Phillip K; Kershaw, Michael H; Brown, Natasha J; Grigg, Andrew P; Trapani, Joseph A; Voskoboinik, Ilia |
| 3 | 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 |
| 4 | Jun-2019 | Bilateral volume reduction in posterior hippocampus in psychosis of epilepsy. | Allebone, James; Kanaan, Richard A A ; Maller, Jerome; O'Brien, Terry; Mullen, Saul A ; Cook, Mark; Adams, Sophia J; Vogrin, Simon; Vaughan, David N; Connelly, Alan; Kwan, Patrick; Berkovic, Samuel F ; D'Souza, Wendyl J; Jackson, Graeme D ; Velakoulis, Dennis; Wilson, Sarah J |
| 5 | 1-Feb-2010 | The borderland of epilepsy: a clinical and molecular view, 100 years on. | Berkovic, Samuel F ; Crompton, Douglas E |
| 6 | 1-Apr-2009 | The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures. | Crompton, Douglas E; Berkovic, Samuel F |
| 7 | 12-Aug-2023 | Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma. | Green, Timothy E; Fujita, Atsushi; Ghaderi, Navid; Heinzen, Erin L; Matsumoto, Naomichi; Klein, Karl Martin; Berkovic, Samuel F ; Hildebrand, Michael S |
| 8 | 1-Jun-2002 | Brain reorganisation in cerebral palsy: a high-field functional MRI study. | Briellmann, Regula S; Abbott, David F ; Caflisch, U; Archer, John S ; Jackson, Graeme D |
| 9 | 23-Dec-2019 | BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. | Scheffer, Ingrid E ; Boysen, Katja E; Schneider, Amy L ; Myers, Candace T; Mehaffey, Michele G; Rochtus, Anne M; Yuen, Yuet-Ping; Ronen, Gabriel M; Chak, Wai Km; Gill, Deepak; Poduri, Annapurna; Mefford, Heather C |
| 10 | Sep-2023 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid E ; Schneider, Amy L ; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette |
| 11 | 7-Oct-2014 | Brief asymmetric tonic posturing with diffuse low-voltage fast activity in seizures arising from the mesial parietal region. | Khan, Saad A; Carney, Patrick W ; Archer, John S |
| 12 | 1-Oct-2010 | Can changes in cortical excitability distinguish progressive from juvenile myoclonic epilepsy? | Badawy, Radwa A B; Macdonell, Richard A L ; Jackson, Graeme D ; Berkovic, Samuel F |
| 13 | May-2018 | Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies? | Reid, Christopher Alan; Rollo, Ben; Petrou, Steven; Berkovic, Samuel F |
| 14 | 2017 | Cannabinoids for Epilepsy - Real Data, at Last. | Berkovic, Samuel F |
| 15 | 24-Nov-2020 | Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. | Balestrini, Simona; Mikati, Mohamad A; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samões, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E ; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Inês; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M |
| 16 | 10-Sep-2020 | Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study. | Balestrini, Simona; Mikati, Mohamad A; Garcia-Roves, Reyes Alvarez; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samoes, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Katharina; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E ; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Ines; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M |
| 17 | Nov-2017 | A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. | Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua; Ren, Zhong; Kamalakaran, Sitharthan; O'Driscoll-Collins, Ailbhe; Berkovic, Samuel F ; Scheffer, Ingrid E ; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H; Allen, Andrew S; Heinzen, Erin L; Goldstein, David B |
| 18 | 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 |
| 19 | 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 |
| 20 | 1-Jan-2001 | Causes of epilepsies: insights from discordant monozygous twins. | Briellmann, Regula S; Jackson, Graeme D ; Torn-Broers, Y; Berkovic, Samuel F |
