|
| | Publication Year | Title | Author(s) |
| 141 | 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 |
| 142 | 29-Sep-2020 | Genetic Contributions to Acquired Epilepsies. | Perucca, Piero ; Scheffer, Ingrid E |
| 143 | 8-Sep-2020 | Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? | Bleakley, Lauren E; Soh, Ming S; Bagnall, Richard D; Sadleir, Lynette G; Gooley, Samuel; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 144 | 31-Aug-2020 | Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. | Berecki, Géza; Helbig, Katherine L; Ware, Tyson L; Grinton, Bronwyn; Skraban, Cara M; Marsh, Eric D; Berkovic, Samuel F ; Petrou, Steven |
| 145 | 31-Aug-2020 | The Genetics of Epilepsy. | Perucca, Piero ; Bahlo, Melanie; Berkovic, Samuel F |
| 146 | 28-Aug-2020 | PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. | Kolc, Kristy L; Møller, Rikke S; Sadleir, Lynette G; Scheffer, Ingrid E ; Kumar, Raman; Gecz, Jozef |
| 147 | 11-Aug-2020 | Mortality in patients with psychogenic nonepileptic seizures. | Nightscales, Russell ; McCartney, Lara; Auvrez, Clarissa; Tao, Gerard; Barnard, Sarah; Malpas, Charles B; Perucca, Piero ; McIntosh, Anne; Chen, Zhibin; Sivathamboo, Shobi; Ignatiadis, Sophia; Jones, Simon; Adams, Sophia; Cook, Mark J; Kwan, Patrick; Velakoulis, Dennis; D'Souza, Wendyl; Berkovic, Samuel F ; O'Brien, Terence J |
| 148 | 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 |
| 149 | 19-Jun-2020 | A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. | Hildebrand, Joanne M; Kauppi, Maria; Majewski, Ian J; Liu, Zikou; Cox, Allison J; Miyake, Sanae; Petrie, Emma J; Silk, Michael A; Li, Zhixiu; Tanzer, Maria C; Brumatti, Gabriela; Young, Samuel N; Hall, Cathrine; Garnish, Sarah E; Corbin, Jason; Stutz, Michael D; Di Rago, Ladina; Gangatirkar, Pradnya; Josefsson, Emma C; Rigbye, Kristin; Anderton, Holly; Rickard, James A; Tripaydonis, Anne; Sheridan, Julie; Scerri, Thomas S; Jackson, Victoria E; Czabotar, Peter E; Zhang, Jian-Guo; Varghese, Leila; Allison, Cody C; Pellegrini, Marc; Tannahill, Gillian M; Hatchell, Esme C; Willson, Tracy A; Stockwell, Dina; de Graaf, Carolyn A; Collinge, Janelle; Hilton, Adrienne; Silke, Natasha; Spall, Sukhdeep K; Chau, Diep; Athanasopoulos, Vicki; Metcalf, Donald; Laxer, Ronald M; Bassuk, Alexander G; Darbro, Benjamin W; Fiatarone Singh, Maria A; Vlahovich, Nicole; Hughes, David; Kozlovskaia, Maria; Ascher, David B; Warnatz, Klaus; Venhoff, Nils; Thiel, Jens; Biben, Christine; Blum, Stefan; Reveille, John; Hildebrand, Michael S ; Vinuesa, Carola G; McCombe, Pamela; Brown, Matthew A; Kile, Benjamin T; McLean, Catriona; Bahlo, Melanie; Masters, Seth L; Nakano, Hiroyasu; Ferguson, Polly J; Murphy, James M; Alexander, Warren S; Silke, John |
| 150 | 14-May-2020 | Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data. | Rafehi, Haloom; Szmulewicz, David J; Pope, Kate; Wallis, Mathew; Christodoulou, John; White, Susan M; Delatycki, Martin B ; Lockhart, Paul J; Bahlo, Melanie |
| 151 | 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 |
| 152 | 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 |
| 153 | 28-Apr-2020 | ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. | Dolzhenko, Egor; Bennett, Mark F ; Richmond, Phillip A; Trost, Brett; Chen, Sai; van Vugt, Joke J F A; Nguyen, Charlotte; Narzisi, Giuseppe; Gainullin, Vladimir G; Gross, Andrew M; Lajoie, Bryan R; Taft, Ryan J; Wasserman, Wyeth W; Scherer, Stephen W; Veldink, Jan H; Bentley, David R; Yuen, Ryan K C; Bahlo, Melanie; Eberle, Michael A |
| 154 | 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 |
| 155 | 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 |
| 156 | 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 |
| 157 | 18-Mar-2020 | CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. | Dobson-Stone, Carol; Hallupp, Marianne; Shahheydari, Hamideh; Ragagnin, Audrey M G; Chatterton, Zac; Carew-Jones, Francine; Shepherd, Claire E; Stefen, Holly; Paric, Esmeralda; Fath, Thomas; Thompson, Elizabeth M; Blumbergs, Peter; Short, Cathy L; Field, Colin D; Panegyres, Peter K; Hecker, Jane; Nicholson, Garth; Shaw, Alex D; Fullerton, Janice M; Luty, Agnes A; Schofield, Peter R; Brooks, William S; Rajan, Neil; Bennett, Mark F; Bahlo, Melanie; Landers, John E; Piguet, Olivier; Hodges, John R; Halliday, Glenda M; Topp, Simon D; Smith, Bradley N; Shaw, Christopher E; McCann, Emily; Fifita, Jennifer A; Williams, Kelly L; Atkin, Julie D; Blair, Ian P; Kwok, John B |
| 158 | 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 |
| 159 | 23-Jan-2020 | GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons. | Bryson, Alexander ; Hatch, Robert John; Zandt, Bas-Jan; Rossert, Christian; Berkovic, Samuel F ; Reid, Christopher A; Grayden, David B; Hill, Sean L; Petrou, Steven |
| 160 | Jan-2020 | A patient-centered approach to understanding long-term psychosocial adjustment and meaning-making, 15 to 20 years after epilepsy surgery. | Coleman, Honor; McIntosh, Anne M ; Wilson, Sarah J |
