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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
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 12, pp. 3200 - 3211
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1255 - 1259
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 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
Pediatric Neurology, ISSN 0887-8994, 2013, Volume 49, Issue 4, pp. 243 - 254
Abstract Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the... 
Pediatrics | Neurology | tuberous sclerosis | diagnostic criteria | clinical features | LYMPHANGIOLEIOMYOMATOSIS | MANAGEMENT | VARIANTS | FUNCTIONAL ASSESSMENT | TSC1 | CARDIAC TUMORS | CLINICAL NEUROLOGY | MICRONODULAR PNEUMOCYTE HYPERPLASIA | ANGIOMYOLIPOMAS | DISEASE | HOGG-DUBE-SYNDROME | PEDIATRICS | Conferences, meetings and seminars | Tuberous sclerosis
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2019, Volume 380, Issue 16, pp. e24 - 1028
To the Editor: With regard to the article by Bailey et al. (March 15, 2018, issue) 1 on the potential role of variants in the gene encoding intestinal-cell... 
MEDICINE, GENERAL & INTERNAL | Intestine | Epilepsy
Journal Article
Epilepsy & Behavior, ISSN 1525-5050, 08/2017, Volume 73, pp. 285 - 285
Journal Article
Cell Reports, ISSN 2211-1247, 08/2016, Volume 16, Issue 9, pp. 2281 - 2288
Human mutations in the cytoplasmic C-terminal domain of Slack sodium-activated potassium (KNa) channels result in childhood epilepsy with severe intellectual... 
PP1 | NEURONS | COUPLED RECEPTORS | OPTICAL BIOSENSOR | MENTAL-RETARDATION PROTEIN | POTASSIUM CHANNEL | CELL BIOLOGY | RNA, Small Interfering - genetics | Phosphorylation | Humans | Neurons - cytology | Fragile X Mental Retardation Protein - metabolism | Cerebral Cortex - cytology | Cerebral Cortex - metabolism | Potassium Channels - metabolism | Adaptor Proteins, Signal Transducing - antagonists & inhibitors | Bithionol - pharmacology | HEK293 Cells | Ion Transport - drug effects | Cell Membrane - metabolism | Microfilament Proteins - metabolism | Neurons - metabolism | Cerebral Cortex - drug effects | Neurons - drug effects | Thiazolidines - pharmacology | Microfilament Proteins - genetics | Cell Membrane - drug effects | Signal Transduction | Nerve Tissue Proteins - agonists | Xenopus laevis | Gene Expression Regulation | Fragile X Mental Retardation Protein - antagonists & inhibitors | Nerve Tissue Proteins - genetics | Mice, Knockout | Potassium Channels - genetics | Nerve Tissue Proteins - metabolism | Bridged Bicyclo Compounds, Heterocyclic - pharmacology | Patch-Clamp Techniques | Animals | Microfilament Proteins - antagonists & inhibitors | Adaptor Proteins, Signal Transducing - genetics | Biosensing Techniques | Potassium Channels - agonists | Protein Binding | Fragile X Mental Retardation Protein - genetics | Mice | Mutation | Primary Cell Culture | Adaptor Proteins, Signal Transducing - metabolism | RNA, Small Interfering - metabolism
Journal Article