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| | Publication Year | Title | Author(s) |
| 21 | 4-Dec-2019 | Correction to: Serum sodium and intracranial pressure changes after desmopressin therapy in severe traumatic brain injury patients: a multi-centre cohort study. | Harrois, A; Anstey, J R; Taccone, F S; Udy, A A; Citerio, G; Duranteau, J; Ichai, C; Badenes, R; Prowle, J R; Ercole, A; Oddo, M; Schneider, A ; van der Jagt, M; Wolf, S; Helbok, R; Nelson, D W; Skrifvars, M B; Cooper, D J; Bellomo, Rinaldo |
| 22 | 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 |
| 23 | 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 |
| 24 | 5-Sep-2019 | Serum sodium and intracranial pressure changes after desmopressin therapy in severe traumatic brain injury patients: a multi-centre cohort study. | Harrois, A; Anstey, J R; Taccone, F S; Udy, A A; Citerio, G; Duranteau, J; Ichai, C; Badenes, R; Prowle, J R; Ercole, A; Oddo, M; Schneider, A ; van der Jagt, M; Wolf, S; Helbok, R; Nelson, D W; Skrifvars, M B; Cooper, D J; Bellomo, Rinaldo |
| 25 | 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 |
| 26 | 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 |
| 27 | 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 |
| 28 | 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 |
| 29 | Feb-2018 | Sleep problems in Dravet syndrome: a modifiable comorbidity. | Licheni, Shane H; Mcmahon, Jacinta M; Schneider, Amy L ; Davey, Margot J; Scheffer, Ingrid E |
| 30 | 2018 | The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. | Chatron, Nicolas; Møller, Rikke S; Champaigne, Neena L; Schneider, Amy L ; Kuechler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik-Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J; Lacroix, Amy; Marjanovic, Dragan; des Portes, Vincent; Edery, Patrick; Wieczorek, Dagmar; Gardella, Elena; Scheffer, Ingrid E ; Mefford, Heather; Sanlaville, Damien; Carvill, Gemma L; Lesca, Gaetan |
| 31 | Dec-2016 | Mortality in Dravet syndrome. | Cooper, Monica S; Mcintosh, Anne M; Crompton, Douglas E; McMahon, Jacinta M; Schneider, Amy L ; Farrell, Kevin; Ganesan, Vijeya; Gill, Deepak; Kivity, Sara; Lerman-Sagie, Tally; McLellan, Ailsa; Pelekanos, James; Ramesh, Venkateswaran; Sadleir, Lynette; Wirrell, Elaine; Scheffer, Ingrid E |
| 32 | 5-May-2016 | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | Petrovski, Slavé; Küry, Sébastien; Myers, Candace T; Anyane-Yeboa, Kwame; Cogné, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L ; Wallace, Geoffrey; Rosen, Aaron B I; Schelley, Susan; Enns, Gregory M; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xénia; Schmitt, Sébastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M; Bézieau, Stéphane; Wierenga, Klaas; Bernstein, Jonathan A; Scheffer, Ingrid E ; Rosenfeld, Jill A; Mefford, Heather C; Isidor, Bertrand; Goldstein, David B |
| 33 | 17-Mar-2015 | CHD2 variants are a risk factor for photosensitivity in epilepsy. | Galizia, Elizabeth C; Myers, Candace T; Leu, Costin; de Kovel, Carolien G F; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L ; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G; Mullen, Saul A ; Berkovic, Samuel F ; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D; Esguerra, Camila V; Kasteleijn-Nolst Trenité, Dorothee G A; Koeleman, Bobby P C; Mefford, Heather C; Scheffer, Ingrid E ; Sisodiya, Sanjay M |
| 34 | 17-Apr-2013 | Postoperative hypothermia and patient outcomes after major elective non-cardiac surgery. | Karalapillai, Dharshi ; Story, David A ; Hart, Graeme K ; Bailey, Michael; Pilcher, David V; Schneider, A ; Kaufman, M; Cooper, David James; Bellomo, Rinaldo |
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