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| | Publication Year | Title | Author(s) |
| 161 | 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 |
| 162 | 1-Oct-2019 | Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response. | Johnson, Jennifer L; Stoica, Loredana; Liu, Yuwei; Zhu, Ping Jun; Bhattacharya, Abhisek; Buffington, Shelly; Huq, Redwan; Eissa, N Tony; Larsson, Ola; Porse, Bo T; Domingo, Deepti; Nawaz, Urwah; Carroll, Renee; Jolly, Lachlan; Scerri, Tom S; Kim, Hyung-Goo; Brignell, Amanda; Coleman, Matthew J; Braden, Ruth; Kini, Usha; Jackson, Victoria; Baxter, Anne; Bahlo, Melanie; Scheffer, Ingrid E ; Amor, David J; Hildebrand, Michael S ; Bonnen, Penelope E; Beeton, Christine; Gecz, Jozef; Morgan, Angela T; Costa-Mattioli, Mauro |
| 163 | 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 |
| 164 | Sep-2019 | Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. | Ware, Tyson L; Huskins, Shannon R; Grinton, Bronwyn E; Liu, Yu-Chi; Bennett, Mark F; Harvey, Michael; McMahon, Jacinta; Andreopoulos-Malikotsinas, Danae; Bahlo, Melanie; Howell, Katherine B; Hildebrand, Michael S ; Damiano, John A; Rosenfeld, Alexander; Mackay, Mark T; Mandelstam, Simone; Leventer, Richard J; Harvey, A Simon; Freeman, Jeremy L; Scheffer, Ingrid E ; Jones, Dean L; Berkovic, Samuel F |
| 165 | Sep-2019 | Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. | Ye, Zimeng; McQuillan, Lara ; Poduri, Annapurna; Green, Timothy E; Matsumoto, Naomichi; Mefford, Heather C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 166 | 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 |
| 167 | 28-Aug-2019 | Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizures. | Farkas, Viktor; Steinborn, Barbara; Flamini, J Robert; Zhang, Ying; Yuen, Nancy; Borghs, Simon; Bozorg, Ali; Daniels, Tony; Martin, Paul; Carney, Hannah C; Dimova, Svetlana; Scheffer, Ingrid E |
| 168 | 1-Aug-2019 | Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder. | Bozaoglu, Kiymet; Gao, Yujing; Stanley, Edouard; Fanjul-Fernández, Miriam; Brown, Natasha J; Pope, Kate; Green, Cherie C; Vlahos, Katerina; Sourris, Koula; Bahlo, Melanie; Delatycki, Martin; Scheffer, Ingrid E ; Lockhart, Paul J |
| 169 | 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 |
| 170 | 29-Jul-2019 | Classification as autonomic versus sensory seizures. | Fisher, Robert S; Cross, Helen; D'Souza, Carol; French, Jacqueline A; Haut, Sheryl; Higurashi, Norimichi; Hirsch, Edouard; Jansen, Floor E; Peltola, Jukka; Moshe, Solomon L; Perucca, Emilio; Lagae, Lieven; Roulet-Perez, Eliane; Schulze-Bonhage, Andreas; Scheffer, Ingrid E ; Somerville, Ernest; Sperling, Michael R; Wiebe, Samuel; Yacubian, Elza Marcia; Zuberi, Sameer |
| 171 | 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 |
| 172 | 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 |
| 173 | 8-Jun-2019 | Autism and developmental disability caused by KCNQ3 gain-of-function variants. | Sands, Tristan T; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E; Sadleir, Lynette G; Arrington, Daniel K; Schönewolf-Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E ; Mefford, Heather C; Stong, Nicholas; Heinzen, Erin L; Goldstein, David B; Grijalvo Perez, Ana; Kossoff, Eric H; Stocco, Amber; Sullivan, Jennifer A; Shashi, Vandana; Gerard, Benedicte; Francannet, Christine; Bisgaard, Anne-Marie; Tümer, Zeynep; Willems, Marjolaine; Rivier, François; Vitobello, Antonio; Thakkar, Kavita; Rajan, Deepa S; Barkovich, A James; Weckhuysen, Sarah; Cooper, Edward C; Taglialatela, Maurizio; Cilio, M Roberta |
| 174 | Jun-2019 | Double somatic mosaicism in a child with Dravet syndrome. | Muir, Alison M; King, Chontelle; Schneider, Amy L ; Buttar, Aman S; Scheffer, Ingrid E ; Sadleir, Lynette G; Mefford, Heather C |
| 175 | May-2019 | No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. | Schulz, Herbert; Ruppert, Ann-Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; S Vari, Maria; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Bianchi, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J; Kunz, Wolfram S; Møller, Rikke S; Oliver, Karen L; Bellows, Susannah T; Mullen, Saul A ; Berkovic, Samuel F ; Scheffer, Ingrid E ; Caglayan, Hande; Ozbek, Ugur; Hoffmann, Per; Schramm, Sara; Tsortouktzidis, Despina; Becker, Albert J; Sander, Thomas |
| 176 | 30-Apr-2019 | Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. | Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S ; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E ; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Winkelmann, Juliane |
| 177 | 10-Apr-2019 | Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. | Gorman, Kathleen M; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J; Bryant, Emily; Reich, Adi; Schneider, Amy L ; Pressler, Ronit M; Simpson, Michael A; Debelle, Geoff D; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R; King, Mary D; Cross, J Helen; Poduri, Annapurna; Mefford, Heather C; Scheffer, Ingrid E ; Haack, Tobias B; McCullagh, Gary; Millichap, John J; Carvill, Gemma L; Clayton-Smith, Jill; Maher, Eamonn R; Raymond, F Lucy; Kurian, Manju A |
| 178 | Mar-2019 | Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. | Vlaskamp, Danique R M; Bassett, Anne S; Sullivan, Joseph E; Robblee, Jennifer; Sadleir, Lynette G; Scheffer, Ingrid E ; Andrade, Danielle M |
| 179 | 25-Jan-2019 | Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. | Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Pérez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C; High, Frances A; Sweetser, David A; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E ; Yang, Edward; Waugh, Jeff L; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna |
| 180 | 2019 | Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. | Shoubridge, Cheryl; Jackson, Matilda; Grinton, Bronwyn; Berkovic, Samuel F ; Scheffer, Ingrid E ; Huskins, Shannon; Thomas, Alison; Ware, Tyson |
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0000-0002-2311-2174