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| | Publication Year | Title | Author(s) |
| 141 | Jul-2020 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | Bennett, Mark F ; Oliver, Karen L; Regan, Brigid M; Bellows, Susannah T; Schneider, Amy L ; Rafehi, Haloom; Sikta, Neblina; Crompton, Douglas E; Coleman, Matthew; Hildebrand, Michael S ; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bahlo, Melanie |
| 2 | Jul-2020 | Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. | Carvill, Gemma L; Helbig, Katherine L; Myers, Candace T; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N; Guida, Brandon S; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G; Caruso, Paul A; Lin, Angela E; Jansen, Floor E; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E ; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C; Kruer, Michael C |
| 3 | Jun-2020 | Keeping people with epilepsy safe during the Covid-19 pandemic. | French, Jacqueline A; Brodie, Martin J; Caraballo, Roberto; Devinsky, Orrin; Ding, Ding; Jehi, Lara; Jette, Nathalie; Kanner, Andres; Modi, Avani C; Newton, Charles R; Patel, Archana A; Pennell, Page B; Perucca, Emilio; Sander, Josemir W; Scheffer, Ingrid E ; Singh, Gagandeep; Williams, Emma; Wilmshurst, Jo; Cross, J Helen |
| 4 | Jun-2020 | Cognitive processes predicting advanced theory of mind in the broader autism phenotype. | Green, Cherie C; Brown, Natasha J; Yap, Valerie M Z; Scheffer, Ingrid E ; Wilson, Sarah J |
| 5 | 4-May-2020 | A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. | Kolc, Kristy L; Sadleir, Lynette G; Depienne, Christel; Marini, Carla; Scheffer, Ingrid E ; Møller, Rikke S; Trivisano, Marina; Specchio, Nicola; Pham, Duyen; Kumar, Raman; Roberts, Rachel; Gecz, Jozef |
| 6 | 1-May-2020 | Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial. | Miller, Ian; Scheffer, Ingrid E ; Gunning, Boudewijn; Sanchez-Carpintero, Rocio; Gil-Nagel, Antonio; Perry, M Scott; Saneto, Russell P; Checketts, Daniel; Dunayevich, Eduardo; Knappertz, Volker |
| 7 | May-2020 | Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. | Hildebrand, Michael S ; Jackson, Victoria E; Scerri, Thomas S; Van Reyk, Olivia; Coleman, Matthew J; Braden, Ruth O; Turner, Samantha; Rigbye, Kristin A; Boys, Amber; Barton, Sarah; Webster, Richard; Fahey, Michael; Saunders, Kerryn; Parry-Fielder, Bronwyn; Paxton, Georgia; Hayman, Michael; Coman, David; Goel, Himanshu; Baxter, Anne; Ma, Alan; Davis, Noni; Reilly, Sheena; Delatycki, Martin; Liégeois, Frederique J; Connelly, Alan; Gecz, Jozef; Fisher, Simon E; Amor, David J; Scheffer, Ingrid E ; Bahlo, Melanie; Morgan, Angela T |
| 8 | 2-Apr-2020 | Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. | Dong, Xiaomin; Tan, Natalie B; Howell, Katherine B; Barresi, Sabina; Freeman, Jeremy L; Vecchio, Davide; Piccione, Maria; Radio, Francesca Clementina; Calame, Daniel; Zong, Shan; Eggers, Stefanie; Scheffer, Ingrid E ; Tan, Tiong Y; Van Bergen, Nicole J; Tartaglia, Marco; Christodoulou, John; White, Susan M |
| 9 | Apr-2020 | Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. | Sadleir, Lynette G; de Valles-Ibáñez, Guillem; King, Chontelle; Coleman, Matthew J; Mossman, Stuart; Paterson, Sarah; Nguyen, John; Berkovic, Samuel F ; Mullen, Saul; Bahlo, Melanie; Hildebrand, Michael S ; Mefford, Heather C; Scheffer, Ingrid E |
| 10 | Apr-2020 | EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. | Shaw, Marie; Winczewska-Wiktor, Anna; Badura-Stronka, Magdalena; Koirala, Sunita; Gardner, Alison; Kuszel, Łukasz; Kowal, Piotr; Steinborn, Barbara; Starczewska, Monika; Garry, Sarah; Scheffer, Ingrid E ; Berkovic, Samuel F ; Gecz, Jozef |
| 11 | 25-Mar-2020 | Antiepileptic drug teratogenicity and de novo genetic variation load. | Perucca, Piero ; Anderson, Alison; Jazayeri, Dana; Hitchcock, Alison; Graham, Janet; Todaro, Marian; Tomson, Torbjörn; Battino, Dina; Perucca, Emilio; Martinez Ferri, Meritxell; Rochtus, Anne; Lagae, Lieven; Canevini, Maria Paola; Zambrelli, Elena; Campbell, Ellen; Koeleman, Bobby P C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Kwan, Patrick; Sisodiya, Sanjay M; Goldstein, David B; Petrovski, Slavé; Craig, John; Vajda, Frank J E; O'Brien, Terence J |
| 12 | 10-Feb-2020 | Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. | Tsai, Meng-Han; Muir, Alison M; Wang, Won-Jing; Kang, Yi-Ning; Yang, Kun-Chuan; Chao, Nian-Hsin; Wu, Mei-Feng; Chang, Ying-Chao; Porter, Brenda E; Jansen, Laura A; Sebire, Guillaume; Deconinck, Nicolas; Fan, Wen-Lang; Su, Shih-Chi; Chung, Wen-Hung; Almanza Fuerte, Edith P; Mehaffey, Michele G; Ng, Ching-Ching; Chan, Chung-Kin; Lim, Kheng-Seang; Leventer, Richard J; Lockhart, Paul J; Riney, Kate; Damiano, John A; Hildebrand, Michael S ; Mirzaa, Ghayda M; Dobyns, William B; Berkovic, Samuel F ; Scheffer, Ingrid E ; Tsai, Jin-Wu; Mefford, Heather C |
| 13 | Feb-2020 | SCN1A variants in vaccine-related febrile seizures: a prospective study. | Damiano, John A; Deng, Lucy; Li, Wenhui; Burgess, Rosemary; Schneider, Amy L ; Crawford, Nigel W; Buttery, Jim; Gold, Michael; Richmond, Peter; Macartney, Kristine K; Hildebrand, Michael S ; Scheffer, Ingrid E ; Wood, Nicholas; Berkovic, Samuel F |
| 14 | 10-Jan-2020 | How gene discovery has transformed management of people with epilepsy. | Scheffer, Ingrid E |
| 15 | Jan-2020 | Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy". | Scheffer, Ingrid E ; Liao, Jianxiang |
| 16 | 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 |
| 17 | Dec-2019 | SCN1A-related phenotypes: Epilepsy and beyond. | Scheffer, Ingrid E ; Nabbout, Rima |
| 18 | Nov-2019 | The epileptology of GNB5 encephalopathy. | Poke, Gemma; King, Chontelle; Muir, Alison; de Valles-Ibáñez, Guillem; Germano, Michele; Moura de Souza, Carolina F; Fung, Jasmine; Chung, Brian; Fung, Cheuk Wing; Mignot, Cyril; Ilea, Adina; Keren, Boris; Vermersch, Anne-Isabelle; Davis, Suzanne; Stanley, Thorsten; Moharir, Mahendranath; Kannu, Peter; Shao, Zhuo; Malerba, Natascia; Merla, Giuseppe; Mefford, Heather C; Scheffer, Ingrid E ; Sadleir, Lynette G |
| 19 | 29-Oct-2019 | Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. | Corbett, Mark A; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F; Florian, Rahel; Schneider, Amy L ; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M; Casari, Giorgio; Sadleir, Lynette G; van Coller, Riaan; Tijssen, Marina A J; Klein, Karl Martin; van den Maagdenberg, Arn M J M; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F ; Pippucci, Tommaso; Canafoglia, Laura; Bahlo, Melanie; Striano, Pasquale; Scheffer, Ingrid E ; Brancati, Francesco; Depienne, Christel; Gecz, Jozef |
| 20 | 15-Oct-2019 | Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. | Guo, Hui; Bettella, Elisa; Marcogliese, Paul C; Zhao, Rongjuan; Andrews, Jonathan C; Nowakowski, Tomasz J; Gillentine, Madelyn A; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H; van Bon, Bregje W; Rinne, Tuula; Stevens, Servi J C; Kleefstra, Tjitske; Brunner, Han G; Yntema, Helger G; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U; Erwin, Deanna J; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather C; Muir, Alison M; Scheffer, Ingrid E ; Regan, Brigid M; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M; Waisfisz, Quinten; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ruivenkamp, Claudia A L; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A; Bernier, Raphael A; Wangler, Michael F; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P A; Bellen, Hugo J; Murgia, Alessandra; Eichler, Evan E |
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0000-0002-2311-2174