|
| | Publication Year | Title | Author(s) |
| 161 | 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 |
| 162 | Jan-2020 | Epilepsy genetics: clinical impacts and biological insights. | Ellis, Colin A; Petrovski, Slavé; Berkovic, Samuel F |
| 163 | 2020 | Anterior temporal encephaloceles: Elusive, important, and rewarding to treat. | Tse, Gabrielle T ; Frydman, Aviva S ; O'Shea, Marie F ; Fitt, Greg J; Weintrob, David L ; Murphy, Michael A; Fabinyi, Gavin C ; Murphy, Michael A ; Cook, Mark J; Berkovic, Samuel F |
| 164 | 2020 | The "maternal effect" on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence. | Ellis, Colin A; Berkovic, Samuel F ; Epstein, Michael P; Ottman, Ruth |
| 165 | 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 |
| 166 | Dec-2019 | Ictal cerebral blood flow in psychogenic non-epileptic seizures: a preliminary SPECT study. | Olver, James S ; Castro-de-Araujo, Luis F S; Mullen, Saul A ; O'Brien, Terry; Berlangieri, Salvatore U ; Vivash, Lucy; Velakoulis, Dennis; Lichtenstein, Meir; Kanaan, Richard A A |
| 167 | Nov-2019 | Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. | van der Veen, Sterre; Zutt, Rodi; Klein, Christine; Marras, Connie; Berkovic, Samuel F ; Caviness, John N; Shibasaki, Hiroshi; de Koning, Tom J; Tijssen, Marina A J |
| 168 | 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 |
| 169 | 29-Oct-2019 | Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. | Florian, Rahel T; Kraft, Florian; Leitão, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kühnel, Theresa; Schröder, Christopher; Giesselmann, Sebastian; Tschernoster, Nikolai; Altmueller, Janine; Lamiral, Anaide; Keren, Boris; Nava, Caroline; Bouteiller, Delphine; Forlani, Sylvie; Jornea, Ludmila; Kubica, Regina; Ye, Tao; Plassard, Damien; Jost, Bernard; Meyer, Vincent; Deleuze, Jean-François; Delpu, Yannick; Avarello, Mario D M; Vijfhuizen, Lisanne S; Rudolf, Gabrielle; Hirsch, Edouard; Kroes, Thessa; Reif, Philipp S; Rosenow, Felix; Ganos, Christos; Vidailhet, Marie; Thivard, Lionel; Mathieu, Alexandre; Bourgeron, Thomas; Kurth, Ingo; Rafehi, Haloom; Steenpass, Laura; Horsthemke, Bernhard; LeGuern, Eric; Klein, Karl Martin; Labauge, Pierre; Bennett, Mark F; Bahlo, Melanie; Gecz, Jozef; Corbett, Mark A; Tijssen, Marina A J; van den Maagdenberg, Arn M J M; Depienne, Christel |
| 170 | Oct-2019 | Expansion of phenotype of DDX3X syndrome: six new cases. | Beal, Bryony; Hayes, Ian; McGaughran, Julie; Amor, David J; Miteff, Christina; Jackson, Victoria; van Reyk, Olivia; Subramanian, Gopinath; Hildebrand, Michael S ; Morgan, Angela T; Goel, Himanshu |
| 171 | Oct-2019 | Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes. | Mohandas, Namitha; Loke, Yuk Jing; Mackenzie, Lisa; Bennett, Carmen; Berkovic, Samuel F ; Craig, Jeffrey M; Vadlamudi, Lata |
| 172 | 12-Sep-2019 | Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. | Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy L ; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Hervé; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guët, Agnès; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T; Mefford, Heather C; Howell, Katherine B; Marini, Carla; Freeman, Jeremy L; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E ; Kabashi, Edor; Nabbout, Rima |
| 173 | Sep-2019 | Identifying the trajectory of social milestones 15-20 years after epilepsy surgery: Realistic timelines for postsurgical expectations. | Coleman, Honor; McIntosh, Anne; Wilson, Sarah J |
| 174 | Sep-2019 | Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption. | Myers, Kenneth A; van 't Hof, Femke N G; Sadleir, Lynette G; Legault, Geneviève; Simard-Tremblay, Elisabeth; Amor, David J; Scheffer, Ingrid E |
| 175 | Aug-2019 | Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity. | Pedersen, Mangor; Kowalczyk, Magdalena; Omidvarnia, Amir; Perucca, Piero ; Gooley, Samuel; Petrou, Steven; Scheffer, Ingrid E ; Berkovic, Samuel F ; Jackson, Graeme D |
| 176 | 22-Jul-2019 | Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech. | Turner, Samantha J; Vogel, Adam P; Parry-Fielder, Bronwyn; Campbell, Rhonda; Scheffer, Ingrid E ; Morgan, Angela T |
| 177 | 20-Jul-2019 | Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. | Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Harlan De Crescenzo, Angelo; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S ; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew J ; Walsh, Laurence; Yang, Sandra; Yuen, Ryan K C; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami |
| 178 | 12-Jul-2019 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. | Salpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L ; Boysen, Katja; Muir, Alison M; Myers, Candace T; Gavrilova, Ralitza H; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C; Scheffer, Ingrid E ; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E; Eichler, Evan E; Kullmann, Dimitri M; Houlden, Henry |
| 179 | 3-Jul-2019 | Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. | Rafehi, Haloom; Szmulewicz, David J; Bennett, Mark F; Sobreira, Nara L M; Pope, Kate; Smith, Katherine R; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A; Barcina, María García; Breen, David P; Chancellor, Andrew M; Cremer, Phillip D; Delatycki, Martin B ; Fogel, Brent L; Hackett, Anna; Halmagyi, G Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R D; Wilson, Michael A; Zee, David S; Valle, David; Amor, David J; Bahlo, Melanie; Lockhart, Paul J |
| 180 | Jul-2019 | Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. | Cameron, Jillian M ; Maljevic, Snezana; Nair, Umesh; Aung, Ye Htet; Cogné, Benjamin; Bézieau, Stéphane; Blair, Edward; Isidor, Bertrand; Zweier, Christiane; Reis, André; Koenig, Mary Kay; Maarup, Timothy; Sarco, Dean; Afenjar, Alexandra; Huq, A H M Mahbubul; Kukolich, Mary; Billette de Villemeur, Thierry; Nava, Caroline; Héron, Bénédicte; Petrou, Steven; Berkovic, Samuel F |
