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| | Publication Year | Title | Author(s) |
| 181 | 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 |
| 182 | Jun-2019 | Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach. | Mohandas, Namitha; Loke, Yuk Jing; Hopkins, Stephanie; Mackenzie, Lisa; Bennett, Carmen; Berkovic, Samuel F ; Vadlamudi, Lata; Craig, Jeffrey M |
| 183 | 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 |
| 184 | 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 |
| 185 | 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 |
| 186 | 4-Jan-2019 | Metabolic patterns and seizure outcomes following anterior temporal lobectomy. | Cahill, Varduhi; Sinclair, Benjamin; Malpas, Charles B; McIntosh, Anne M ; Chen, Zhibin; Vivash, Lucy E; O'Shea, Marie F ; Wilson, Sarah J; Desmond, Patricia M; Berlangieri, Salvatore U ; Hicks, Rodney J; Rowe, Christopher C ; Morokoff, Andrew P; King, James A; Fabinyi, Gavin C; Kaye, Andrew H; Kwan, Patrick; Berkovic, Samuel F ; O'Brien, Terence J |
| 187 | 1-Jan-2019 | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. | Berkovic, Samuel F ; Oliver, Karen L; Canafoglia, Laura; Krieger, Penina; Damiano, John A; Hildebrand, Michael S ; Morbin, Michela; Vears, Danya F; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M; Franceschetti, Silvana; Carpenter, Stirling |
| 188 | 2019 | Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. | Booth, Kevin T; Askew, James W; Talebizadeh, Zohreh; Huygen, Patrick L M; Eudy, James; Kenyon, Judith; Hoover, Denise; Hildebrand, Michael S ; Smith, Katherine R; Bahlo, Melanie; Kimberling, William J; Smith, Richard J H; Azaiez, Hela; Smith, Shelley D |
| 189 | 2019 | Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. | Mole, Sara E; Anderson, Glenn; Band, Heather A; Berkovic, Samuel F ; Cooper, Jonathan D; Kleine Holthaus, Sophia-Martha; McKay, Tristan R; Medina, Diego L; Rahim, Ahad A; Schulz, Angela; Smith, Alexander J |
| 190 | 2019 | SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. | Vlaskamp, Danique R M; Shaw, Benjamin J; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T; Bennett, Mark F; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M; Brooks, Alice S; Mancini, Grazia M S; van de Laar, Ingrid M B H; van Hagen, Johanna M; Ware, Tyson L; Webster, Richard I; Malone, Stephen; Berkovic, Samuel F ; Kalnins, Renate M; Sicca, Federico; Korenke, G Christoph; van Ravenswaaij-Arts, Conny M A; Hildebrand, Michael S ; Mefford, Heather C; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E |
| 191 | 2019 | Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. | Burgess, Rosemary; Wang, Shuyu; McTague, Amy; Boysen, Katja E; Yang, Xiaoling; Zeng, Qi; Myers, Kenneth A; Rochtus, Anne; Trivisano, Marina; Gill, Deepak; Sadleir, Lynette G; Specchio, Nicola; Guerrini, Renzo; Marini, Carla; Zhang, Yue-Hua; Mefford, Heather C; Kurian, Manju A; Poduri, Annapurna H; Scheffer, Ingrid E |
| 192 | 2019 | Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. | Cowley, Mark J; Liu, Yu-Chi; Oliver, Karen L; Carvill, Gemma; Myers, Candace T; Gayevskiy, Velimir; Delatycki, Martin B ; Vlaskamp, Danique R M; Zhu, Ying; Mefford, Heather; Buckley, Michael F; Bahlo, Melanie; Scheffer, Ingrid E ; Dinger, Marcel E; Roscioli, Tony |
| 193 | 2019 | Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group. | Samarasekera, Shanika R; Wynd, Alex W ; McIntosh, Anne M ; Berkovic, Samuel F |
| 194 | 6-Dec-2018 | Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data. | Tankard, Rick M; Bennett, Mark F; Degorski, Peter; Delatycki, Martin B ; Lockhart, Paul J; Bahlo, Melanie |
| 195 | 6-Dec-2018 | Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. | Carvill, Gemma L; Engel, Krysta L; Ramamurthy, Aishwarya; Cochran, J Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L ; Hollingsworth, Georgie; Holder, Dylan H; Regan, Brigid M; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E Martina; Nguyen, John; Barsh, Gregory S; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel F ; De Jonghe, Peter; Scheffer, Ingrid E ; Myers, Richard M; Cooper, Gregory M; Mefford, Heather C |
| 196 | 4-Dec-2018 | A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. | O'Neill, Adam C; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J; Kirk, Edwin P; Fry, Andrew; Pilz, Daniela T; Morgan, Tim; Jenkins, Zandra A; Drukker, Micha; Berkovic, Samuel F ; Scheffer, Ingrid E ; Guerrini, Renzo; Markie, David M; Götz, Magdalena; Cappello, Silvia; Robertson, Stephen P |
| 197 | 1-Nov-2018 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B S; Scheffer, Ingrid E ; Helbig, Ingo; Zamponi, Gerald W; Lerche, Holger; Mefford, Heather C; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C; Nolan, Melinda A; Snell, Russell G; Lehnert, Klaus; Sadleir, Lynette G; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J; Lyons, Michael J; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M; Smith, Lacey A; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J; Rankin, Julia; Zeman, Adam; Raymond, F Lucy |
| 198 | 15-Oct-2018 | Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. | Myers, Kenneth A; Davey, Margot J; Ching, Michael ; Ellis, Colin; Grinton, Bronwyn E; Roten, Annie ; Lightfoot, Paul A ; Scheffer, Ingrid E |
| 199 | 10-Aug-2018 | Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. | Myers, Kenneth A; White, Susan M; Mohammed, Shehla; Metcalfe, Kay A; Fry, Andrew E; Wraige, Elisabeth; Vasudevan, Pradeep C; Balasubramanian, Meena; Scheffer, Ingrid E |
| 200 | 1-Aug-2018 | Genetic literacy series: genetic epilepsy with febrile seizures plus. | Myers, Kenneth A; Scheffer, Ingrid E ; Berkovic, Samuel F |
