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[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (2) 2
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cortical dysplasia (2) 2
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by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
by Steffens, Michael and Leu, Costin and Ruppert, Ann-Kathrin and Zara, Federico and Striano, Pasquale and Robbiano, Angela and Capovilla, Giuseppe and Tinuper, Paolo and Gambardella, Antonio and Bianchi, Amedeo and La neve, Angela and Crichiutti, Giovanni and de kovel, Carolien G.F and Trenité, Dorothée Kasteleijn-Nolst and de haan, Gerrit-Jan and Lindhout, Dick and Gaus, Verena and Schmitz, Bettina and Janz, Dieter and Weber, Yvonne G and Becker, Felicitas and Lerche, Holger and Steinhoff, Bernhard J and Kleefuß-Lie, Ailing A and Kunz, Wolfram S and Surges, Rainer and Elger, Christian E and Muhle, Hiltrud and Von spiczak, Sarah and Ostertag, Philipp and Helbig, Ingo and Stephani, Ulrich and Møller, Rikke S and Hjalgrim, Helle and Dibbens, Leanne M and Bellows, Susannah and Oliver, Karen and Mullen, Saul and Scheffer, Ingrid E and Berkovic, Samuel F and Everett, Kate V and Gardiner, Mark R and Marini, Carla and Guerrini, Renzo and Lehesjoki, Anna-Elina and Siren, Auli and Guipponi, Michel and Malafosse, Alain and Thomas, Pierre and Nabbout, Rima and Baulac, Stephanie and Leguern, Eric and Guerrero, Rosa and Serratosa, Jose M and Reif, Philipp S and Rosenow, Felix and Mörzinger, Martina and Feucht, Martha and Zimprich, Fritz and Kapser, Claudia and Schankin, Christoph J and Suls, Arvid and Smets, Katrin and De jonghe, Peter and Jordanova, Albena and Caglayan, Hande and Yapici, Zuhal and Yalcin, Destina A and Baykan, Betul and Bebek, Nerses and Ozbek, Ugur and Gieger, Christian and Wichmann, Heinz-Erich and Balschun, Tobias and Ellinghaus, David and Franke, Andre and Meesters, Christian and Becker, Tim and Wienker, Thomas F and Hempelmann, Anne and Schulz, Herbert and Rüschendorf, Franz and Leber, Markus and Pauck, Steffen M and Trucks, Holger and Toliat, Mohammad R and Nürnberg, Peter and Avanzini, Giuliano and Koeleman, Bobby P.C and Sander, Thomas and Weckhuysen, Sarah and Claes, Lieve and Deprez, Liesbet and Van Dyck, Tine and Deconinck, Tine and Velizarova, Reana and Dimova, Petya and Radionova, Melania and Tournev, Ivaylo and Kancheva, Dahlia and ... and EMINET Consortium and EPICURE Consortium and EMINet Consortium
Human Molecular Genetics, ISSN 0964-6906, 12/2012, Volume 21, Issue 24, pp. 5359 - 5372
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative... 
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | FAMILIAL FOCAL EPILEPSY | MAMMALIAN TARGET | CORTICAL DYSPLASIA | COMPLEX | DEPDC5 MUTATIONS | MODEL | SUDDEN UNEXPECTED DEATH | GTPASES | GENETICS | GENES | GENETICS & HEREDITY | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
Journal Article
Journal Article
by May, Patrick and Girard, Simon and Harrer, Merle and Bobbili, Dheeraj R and Schubert, Julian and Wolking, Stefan and Becker, Felicitas and Lachance-Touchette, Pamela and Meloche, Caroline and Gravel, Micheline and Niturad, Cristina E and Knaus, Julia and De Kovel, Carolien and Toliat, Mohamad and Polvi, Anne and Iacomino, Michele and Guerrero-López, Rosa and Baulac, Stéphanie and Marini, Carla and Thiele, Holger and Altmüller, Janine and Jabbari, Kamel and Ruppert, Ann-Kathrin and Jurkowski, Wiktor and Lal, Dennis and Rusconi, Raffaella and Cestèle, Sandrine and Terragni, Benedetta and Coombs, Ian D and Reid, Christopher A and Striano, Pasquale and Caglayan, Hande and Siren, Auli and Everett, Kate and Møller, Rikke S and Hjalgrim, Helle and Muhle, Hiltrud and Helbig, Ingo and Kunz, Wolfram S and Weber, Yvonne G and Weckhuysen, Sarah and Jonghe, Peter De and Sisodiya, Sanjay M and Nabbout, Rima and Franceschetti, Silvana and Coppola, Antonietta and Vari, Maria S and Kasteleijn-Nolst Trenité, Dorothée and Baykan, Betul and Ozbek, Ugur and Bebek, Nerses and Klein, Karl M and Rosenow, Felix and Nguyen, Dang K and Dubeau, François and Carmant, Lionel and Lortie, Anne and Desbiens, Richard and Clément, Jean-François and Cieuta-Walti, Cécile and Sills, Graeme J and Auce, Pauls and Francis, Ben and Johnson, Michael R and Marson, Anthony G and Berghuis, Bianca and Sander, Josemir W and Avbersek, Andreja and McCormack, Mark and Cavalleri, Gianpiero L and Delanty, Norman and Depondt, Chantal and Krenn, Martin and Zimprich, Fritz and Peter, Sarah and Nikanorova, Marina and Kraaij, Robert and van Rooij, Jeroen and Balling, Rudi and Ikram, M Arfan and Uitterlinden, André G and Avanzini, Giuliano and Schorge, Stephanie and Petrou, Steven and Mantegazza, Massimo and Sander, Thomas and LeGuern, Eric and Serratosa, Jose M and Koeleman, Bobby P C and Palotie, Aarno and Lehesjoki, Anna-Elina and Nothnagel, Michael and Nürnberg, Peter and Maljevic, Snezana and Zara, Federico and Cossette, Patrick and Krause, Roland and Lerche, Holger and De Jonghe, Peter and Arfan Ikram, M and ... and Epicure Consortium and EpiPGX Consortium and EuroEPINOMICS COGIE Consortium and EuroEPINOMICS CoGIE Consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 699 - 708
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, pp. e0180470 - e0180470
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 02/2012, Volume 53, Issue 2, pp. 308 - 318
Journal Article