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| | Publication Year | Title | Author(s) |
| 1 | Mar-2021 | Climate change and epilepsy: Insights from clinical and basic science studies. | Gulcebi, Medine I; Bartolini, Emanuele; Lee, Omay; Lisgaras, Christos Panagiotis; Onat, Filiz; Mifsud, Janet; Striano, Pasquale; Vezzani, Annamaria; Hildebrand, Michael S ; Jimenez-Jimenez, Diego; Junck, Larry; Lewis-Smith, David; Scheffer, Ingrid E ; Thijs, Roland D; Zuberi, Sameer M; Blenkinsop, Stephen; Fowler, Hayley J; Foley, Aideen; Sisodiya, Sanjay M |
| 2 | 15-Feb-2021 | Speech, Language and Oromotor Skills in Patients with Polymicrogyria. | Braden MSpPath, Ruth O; Boyce, Jessica O; Stutterd, Chloe A ; Pope, Kate; Goel, Himanshu; Leventer, Richard J; Scheffer, Ingrid E ; Morgan, Angela T |
| 3 | 21-Jan-2021 | The severe epilepsy syndromes of infancy: A population-based study. | Howell, Katherine B; Freeman, Jeremy L; Mackay, Mark T; Fahey, Michael C; Archer, John S ; Berkovic, Samuel F ; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W; Jacobs, Susan E; Kornberg, Andrew J; Leventer, Richard J; Mandelstam, Simone; McMahon, Jacinta M; Mefford, Heather C; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M; Schneider, Amy L ; Smith, Lindsay J; Stark, Zornitza; Wong, Flora; Yiu, Eppie M; Scheffer, Ingrid E ; Harvey, A Simon |
| 4 | 7-Jan-2021 | The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. | Datta, Alexandre N; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E; Gardiner, Fiona; Cross, J Helen; Heron, Bénédicte; Kaminska, Anna; Korff, Christian M; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C; Mignot, Cyrill; Milh, Matthieu; Piton, Amélie; Pressler, Ronit M; Ruf, Susanne; Sadleir, Lynette G; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E; Ville, Dorothée; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E ; Lemke, Johannes R |
| 5 | 4-Jan-2021 | Contribution of rare genetic variants to drug response in absence epilepsy. | Myers, Kenneth A; Bennett, Mark F ; Grinton, Bronwyn E; Dabscheck, Gabriel; Chan, Eunice K; Bello-Espinosa, Luis E; Sadleir, Lynette G; D'Alfonso, Sabrina; Schneider, Amy L ; Damiano, John A; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F ; Buchhalter, Jeffrey; Scheffer, Ingrid E |
| 6 | 24-Dec-2020 | Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. | Alawadhi, Abdulla; Morgan, Angela T; Mucha, Bettina E; Scheffer, Ingrid E ; Myers, Kenneth A |
| 7 | 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 |
| 8 | 18-Nov-2020 | Transcriptome analysis of a ring chromosome 20 patient cohort. | Myers, Kenneth A; Bennett, Mark F ; Hildebrand, Michael S ; Coleman, Matthew J; Zhou, Geyu; Hollingsworth, Georgie; Cairns, Anita; Riney, Kate; Berkovic, Samuel F ; Bahlo, Melanie; Scheffer, Ingrid E |
| 9 | 4-Nov-2020 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F ; Berkovic, Samuel F ; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S ; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L ; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E |
| 10 | Nov-2020 | Fenfluramine HCl (Fintepla® ) provides long-term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open-label extension study. | Sullivan, Joseph; Scheffer, Ingrid E ; Lagae, Lieven; Nabbout, Rima; Pringsheim, Milka; Talwar, Dinesh; Polster, Tilman; Galer, Bradley; Lock, Michael; Agarwal, Anupam; Gammaitoni, Arnold; Morrison, Glenn; Farfel, Gail |
| 11 | Nov-2020 | Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? | Vezyroglou, Aikaterini; Varadkar, Sophia; Bast, Thomas; Hirsch, Edouard; Strobl, Karl; Harvey, A Simon; Scheffer, Ingrid E ; Sisodiya, Sanjay M; Cross, J Helen |
| 12 | Nov-2020 | Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. | Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy ; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G; Breuillard, Delphine; Levy, Raphael; Rio, Marlène; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Hélène; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L; Mefford, Heather C; Myers, Candace T; Howell, Katherine B; Rodríguez-Sacristán Cascajo, Andrés; Meyer, Pierre; Genevieve, David; Guët, Agnès; Doummar, Diane; Durigneux, Julien; van Dooren, Marieke F; de Wit, Marie Claire Y; Gerard, Marion; Marey, Isabelle; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E ; Kabashi, Edor; Nabbout, Rima |
| 13 | Nov-2020 | Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome. | Brown, Amy; Arpone, Marta; Schneider, Amy L ; Micallef, Silvana ; Anderson, Vicki A; Scheffer, Ingrid E |
| 14 | 27-Oct-2020 | Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. | Trevis, Krysta J; Brown, Natasha J; Green, Cherie C; Lockhart, Paul J; Desai, Tarishi; Vick, Tanya; Anderson, Vicki; Pua, Emmanuel P K; Bahlo, Melanie; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah J |
| 15 | 21-Oct-2020 | Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E |
| 16 | 14-Oct-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. | Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S ; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F ; Schneider, Amy L ; Scheffer, Ingrid E ; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew J ; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L |
| 17 | 1-Oct-2020 | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E |
| 18 | 29-Sep-2020 | Genetic Contributions to Acquired Epilepsies. | Perucca, Piero; Scheffer, Ingrid E |
| 19 | 23-Sep-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 |
| 20 | 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 |
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