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| | Publication Year | Title | Author(s) |
| 121 | 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 |
| 122 | Apr-2021 | Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. | Myers, Kenneth A; Marini, Carla; Carvill, Gemma L; McTague, Amy; Panetta, Julie; Stutterd, Chloe A ; Stanley, Thorsten; Marin, Samantha; Nguyen, John; Barba, Carmen; Rosati, Anna; Scott, Richard H; Mefford, Heather C; Guerrini, Renzo; Scheffer, Ingrid E |
| 123 | Feb-2021 | 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 |
| 124 | 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 |
| 125 | 15-Jan-2021 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, Dhamidhu; Schneider, Amy L ; Lynch, Ella; Martyn, Melissa; Velakoulis, Dennis; Fahey, Michael; Kwan, Patrick; Leventer, Richard; Rafehi, Haloom; Chong, Belinda; Stark, Zornitza; Lunke, Sebastian; Phelan, Dean G; O'Keefe, Melanie; Siemering, Kirby; West, Kirsty; Sexton, Adrienne; Jarmolowicz, Anna; Taylor, Jessica A; Schultz, Joshua; Purvis, Rebecca; Uebergang, Eloise; Chalinor, Heather; Creighton, Belinda; Gelfand, Nikki; Saks, Tamar; Prawer, Yael; Smagarinsky, Yana; Pan, Tianxin; Goranitis, Ilias; Ademi, Zanfina; Gaff, Clara; Huq, Aamira; Walsh, Maie; James, Paul A; Krzesinski, Emma I; Wallis, Mathew J ; Stutterd, Chloe A ; Bahlo, Melanie; Delatycki, Martin B ; Berkovic, Samuel F |
| 126 | Jan-2021 | 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 |
| 127 | Jan-2021 | FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. | Schneider, Amy L ; Myers, Candace T; Muir, Alison M; Calvert, Sophie; Basinger, Alice; Perry, M Scott; Rodan, Lance; Helbig, Katherine L; Chambers, Chelsea; Gorman, Kathleen M; King, Mary D; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F; Michaud, Jacques L; Balak, Christopher; Mefford, Heather C; Scheffer, Ingrid E |
| 128 | Jan-2021 | 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 |
| 129 | Jan-2021 | Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy. | Dreier, Julie W; Ellis, Colin A; Berkovic, Samuel F ; Cotsapas, Chris; Ottman, Ruth; Christensen, Jakob |
| 130 | 2021 | Defining Dravet syndrome: An essential pre-requisite for precision medicine trials. | Li, Wenhui; Schneider, Amy L ; Scheffer, Ingrid E |
| 131 | 2021 | Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. | Bott, Laura C; Forouhan, Mitra; Lieto, Maria; Sala, Ambre J; Ellerington, Ruth; Johnson, Janel O; Speciale, Alfina A; Criscuolo, Chiara; Filla, Alessandro; Chitayat, David; Alkhunaizi, Ebba; Shannon, Patrick; Nemeth, Andrea H; Angelucci, Francesco; Lim, Wooi Fang; Striano, Pasquale; Zara, Federico; Helbig, Ingo; Muona, Mikko; Courage, Carolina; Lehesjoki, Anna-Elina; Berkovic, Samuel F ; Fischbeck, Kenneth H; Brancati, Francesco; Morimoto, Richard I; Wood, Matthew J A; Rinaldi, Carlo |
| 132 | 2021 | Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies. | Palmer, Elizabeth E; Howell, Katherine; Scheffer, Ingrid E |
| 133 | 2021 | Seizures in Sotos syndrome: Phenotyping in 49 patients. | Fortin, Olivier; Vincelette, Christian; Khan, Afsheen Q; Berrahmoune, Saoussen; Dassi, Christelle; Karimi, Mitra; Scheffer, Ingrid E ; Lu, Jun; Davis, Kellie; Myers, Kenneth A |
| 134 | 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 |
| 135 | 2021 | Cutting Edge Approaches to Detecting Brain Mosaicism Associated with Common Focal Epilepsies: Implications for Diagnosis and Potential therapies. | Ye, Zimeng; Bennett, Mark F ; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
| 136 | 2021 | Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1. | Yeetong, Patra; Chunharas, Chaipat; Pongpanich, Monnat; Bennett, Mark F ; Srichomthong, Chalurmpon; Pasutharnchat, Nath; Suphapeetiporn, Kanya; Bahlo, Melanie; Shotelersuk, Vorasuk |
| 137 | Dec-2020 | Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors. | Ellis, Colin A; Ottman, Ruth; Epstein, Michael P; Berkovic, Samuel F |
| 138 | 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 |
| 139 | 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 |
| 140 | 23-Oct-2020 | Anterior temporal encephaloceles: Elusive, important, and rewarding to treat. | Tse, Gabrielle T ; Frydman, Aviva S ; O'Shea, Marie F ; Fitt, Gregory J ; Weintrob, David L ; Murphy, Michael A; Fabinyi, Gavin C ; Bulluss, Kristian J ; Cook, Mark J; Berkovic, Samuel F |
