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| | Publication Year | Title | Author(s) |
| 261 | Dec-2016 | Periventricular nodular heterotopia: detection of abnormal microanatomic fiber structures with whole-brain diffusion MR imaging tractography | Farquharson, Shawna ; Tournier, Jacques-Donald; Calamante, Fernando; Mandelstam, Simone A; Burgess, Rosemary; Schneider, Michal E; Berkovic, Samuel F ; Scheffer, Ingrid E ; Jackson, Graeme D ; Connelly, Alan |
| 262 | 8-Nov-2016 | Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy | Corbett, Mark A; Bellows, Susannah T; Li, Melody; Carroll, Renée; Micallef, Silvana ; Carvill, Gemma L; Myers, Candace T; Howell, Katherine B; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V; Mefford, Heather C; Bahlo, Melanie; Berkovic, Samuel F ; Petrou, Steven; Scheffer, Ingrid E ; Gecz, Jozef |
| 263 | 13-Oct-2016 | Early neuroimaging markers of FOXP2 intragenic deletion | Liégeois, Frédérique J; Hildebrand, Michael S ; Bonthrone, Alexandra; Turner, Samantha J; Scheffer, Ingrid E ; Bahlo, Melanie; Connelly, Alan; Morgan, Angela T |
| 264 | 26-Aug-2016 | Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy | Tsai, Meng-Han; Vaughan, David N; Perchyonok, Yuliya ; Fitt, Gregory J ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Jackson, Graeme D |
| 265 | 4-Aug-2016 | Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy | Hildebrand, Michael S ; Griffin, Nicole G; Damiano, John A; Cops, Elisa J; Burgess, Rosemary; Ozturk, Ezgi; Jones, Nigel C; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Sadleir, Lynette G; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Allen, Andrew S; Goldstein, David B; Kerrigan, John F; Berkovic, Samuel F ; Heinzen, Erin L |
| 266 | 1-Jul-2016 | Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2 | Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F ; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas E; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; LeGuern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid E ; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark A; Bahlo, Melanie |
| 267 | Jul-2016 | SCN8A encephalopathy: Research progress and prospects. | Meisler, Miriam H; Helman, Guy; Hammer, Michael F; Fureman, Brandy E; Gaillard, William D; Goldin, Alan L; Hirose, Shinichi; Ishii, Atsushi; Kroner, Barbara L; Lossin, Christoph; Mefford, Heather C; Parent, Jack M; Patel, Manoj; Schreiber, John; Stewart, Randall; Whittemore, Vicky; Wilcox, Karen; Wagnon, Jacy L; Pearl, Phillip L; Vanderver, Adeline; Scheffer, Ingrid E |
| 268 | Jul-2016 | Pitfalls in genetic testing: the story of missed SCN1A mutations | Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S; de Kovel, Carolien G; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G; Gormley, Padhraig; Guerrero-López, Rosa; Guerrini, Renzo; Hämäläinen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Koeleman, Bobby PC; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Leu, Costin; Marini, Carla; McMahon, Jacinta M; Mei, Davide; Møller, Rikke S; Muhle, Hiltrud; Myers, Candace T; Nava, Caroline; Serratosa, Jose M; Sisodiya, Sanjay M; Stephani, Ulrich; Striano, Pasquale; van Kempen, Marjan JA; Verbeek, Nienke E; Usluer, Sunay; Zara, Federico; Palotie, Aarno; Mefford, Heather C; Scheffer, Ingrid E ; De Jonghe, Peter; Helbig, Ingo; Suls, Arvid; EuroEPINOMICS‐RES Dravet working group |
| 269 | 29-Jun-2016 | Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy | Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M; Labalme, Audrey; Salmi, Manal; Bache, Iben; Bruneau, Nadine; Pendziwiat, Manuela; Fluss, Joel; de Bellescize, Julitta; Scholly, Julia; Møller, Rikke S; Craiu, Dana; Tommerup, Niels; Valenti-Hirsch, Maria Paola; Schluth-Bolard, Caroline; Sloan-Béna, Frédérique; Helbig, Katherine L; Weckhuysen, Sarah; Edery, Patrick; Coulbaut, Safia; Abbas, Mohamed; Scheffer, Ingrid E ; Tang, Sha; Myers, Candace T; Stamberger, Hannah; Carvill, Gemma L; Shinde, Deepali N; Mefford, Heather C; Neagu, Elena; Huether, Robert; Lu, Hsiao-Mei; Dica, Alice; Cohen, Julie S; Iliescu, Catrinel; Pomeran, Cristina; Rubenstein, James; Helbig, Ingo; Sanlaville, Damien; Hirsch, Edouard; Szepetowski, Pierre |
| 270 | 1-Jun-2016 | Epilepsy in KCNH1-related syndromes. | Mastrangelo, Mario; Scheffer, Ingrid E ; Bramswig, Nuria C; Nair, Lal D V; Myers, Candace T; Dentici, Maria Lisa; Korenke, Georg C; Schoch, Kelly; Campeau, Philippe M; White, Susan M; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J; Leuzzi, Vincenzo |
| 271 | 10-May-2016 | Definition and diagnostic criteria of sleep-related hypermotor epilepsy. | Tinuper, Paolo; Bisulli, Francesca; Cross, J H; Hesdorffer, Dale; Kahane, Philippe; Nobili, Lino; Provini, Federica; Scheffer, Ingrid E ; Tassi, Laura; Vignatelli, Luca; Bassetti, Claudio; Cirignotta, Fabio; Derry, Christopher; Gambardella, Antonio; Guerrini, Renzo; Halasz, Peter; Licchetta, Laura; Mahowald, Mark; Manni, Raffaele; Marini, Carla; Mostacci, Barbara; Naldi, Ilaria; Parrino, Liborio; Picard, Fabienne; Pugliatti, Maura; Ryvlin, Philippe; Vigevano, Federico; Zucconi, Marco; Berkovic, Samuel F ; Ottman, Ruth |
| 272 | 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 |
| 273 | Apr-2016 | A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. | Ha, Thuong T; Sadleir, Lynette G; Mandelstam, Simone A; Paterson, Sarah J; Scheffer, Ingrid E ; Gecz, Jozef; Corbett, Mark A |
| 274 | Apr-2016 | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy | Bagnall, Richard D; Crompton, Douglas E; Petrovski, Slavé; Lam, Lien; Cutmore, Carina; Garry, Sarah I; Sadleir, Lynette G; Dibbens, Leanne M; Cairns, Anita; Kivity, Sara; Afawi, Zaid; Regan, Brigid M; Duflou, Johan; Berkovic, Samuel F ; Scheffer, Ingrid E ; Semsarian, Christopher |
| 275 | Mar-2016 | The genetic landscape of the epileptic encephalopathies of infancy and childhood | McTague, Amy; Howell, Katherine B; Cross, J Helen; Kurian, Manju A; Scheffer, Ingrid E |
| 276 | 23-Feb-2016 | Multiplex families with epilepsy: Success of clinical and molecular genetic characterization | Afawi, Zaid; Oliver, Karen L; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y; Helbig, Katherine L; Goldberg-Stern, Hadassa; Misk, Adel J; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H; Mangelsdorf, Marie; MacPherson, James N; Carvill, Gemma L; Mefford, Heather C; Jackson, Graeme D ; Scheffer, Ingrid E ; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E; Corbett, Mark A; Mulley, John C; Dibbens, Leanne M; Korczyn, Amos D; Berkovic, Samuel F |
| 277 | Jan-2016 | Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. | Ricos, Michael G; Hodgson, Bree L; Pippucci, Tommaso; Saidin, Akzam; Ong, Yeh Sze; Heron, Sarah E; Licchetta, Laura; Bisulli, Francesca; Bayly, Marta A; Hughes, James; Baldassari, Sara; Palombo, Flavia; Santucci, Margherita; Meletti, Stefano; Berkovic, Samuel F ; Rubboli, Guido; Thomas, Paul Q; Scheffer, Ingrid E ; Tinuper, Paolo; Geoghegan, Joel; Schreiber, Andreas W; Dibbens, Leanne M |
| 278 | 2016 | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID | van Bon, B W M; Coe, B P; Bernier, R; Green, C; Gerdts, J; Witherspoon, K; Kleefstra, T; Willemsen, M H; Kumar, R; Bosco, P; Fichera, M; Li, D; Amaral, D; Cristofoli, F; Peeters, H; Haan, E; Romano, C; Mefford, Heather C; Scheffer, Ingrid E ; Gecz, Jozef; de Vries, Bert B A; Eichler, E E |
| 279 | 14-Dec-2015 | PIK-ing the right gene for polymicrogyria | Scheffer, Ingrid E |
| 280 | 9-Dec-2015 | Loss of synaptic Zn2+ transporter function increases risk of febrile seizures | Hildebrand, Michael S ; Phillips, A Marie; Mullen, Saul A ; Adlard, Paul A; Hardies, Katia; Damiano, John A; Wimmer, Verena; Bellows, Susannah T; McMahon, Jacinta M; Burgess, Rosemary; Hendrickx, Rik; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Scheffer, Ingrid E ; Petrou, Steven; Berkovic, Samuel F ; Reid, Christopher A |
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0000-0002-2311-2174