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Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
by Abou-Khalil, Bassel and Auce, Pauls and Avbersek, Andreja and Bahlo, Melanie and Balding, David J and Bast, Thomas and Baum, Larry and Becker, Albert J and Becker, Felicitas and Berghuis, Bianca and Berkovic, Samuel F and Boysen, Katja E and Bradfield, Jonathan P and Brody, Lawrence C and Buono, Russell J and Campbell, Ellen and Cascino, Gregory D and Catarino, Claudia B and Cavalleri, Gianpiero L and Cherny, Stacey S and Chinthapalli, Krishna and Coffey, Alison J and Compston, Alastair and Coppola, Antonietta and Cossette, Patrick and Craig, John J and de Haan, Gerrit-Jan and De Jonghe, Peter and de Kovel, Carolien G. F and Delanty, Norman and Depondt, Chantal and Devinsky, Orrin and Dlugos, Dennis J and Doherty, Colin P and Elger, Christian E and Eriksson, Johan G and Ferraro, Thomas N and Feucht, Martha and Francis, Ben and Franke, Andre and French, Jacqueline A and Freytag, Saskia and Gaus, Verena and Geller, Eric B and Gieger, Christian and Glauser, Tracy and Glynn, Simon and Goldstein, David B and Gui, Hongsheng and Guo, Youling and Haas, Kevin F and Hakonarson, Hakon and Hallmann, Kerstin and Haut, Sheryl and Heinzen, Erin L and Helbig, Ingo and Hengsbach, Christian and Hjalgrim, Helle and Iacomino, Michele and Ingason, Andrés and Jamnadas-Khoda, Jennifer and Johnson, Michael R and Kälviäinen, Reetta and Kantanen, Anne-Mari and Kasperavičiūte, Dalia and Kasteleijn-Nolst Trenite, Dorothee and Kirsch, Heidi E and Knowlton, Robert C and Koeleman, Bobby P. C and Krause, Roland and Krenn, Martin and Kunz, Wolfram S and Kuzniecky, Ruben and Kwan, Patrick and Lal, Dennis and Lau, Yu-Lung and Lehesjoki, Anna-Elina and Lerche, Holger and Leu, Costin and Lieb, Wolfgang and Lindhout, Dick and Lo, Warren D and Lopes-Cendes, Iscia and Lowenstein, Daniel H and Malovini, Alberto and Marson, Anthony G and Mayer, Thomas and McCormack, Mark and Mills, James L and Mirza, Nasir and Moerzinger, Martina and Møller, Rikke S and Molloy, Anne M and Muhle, Hiltrud and Newton, Mark and Ng, Ping-Wing and Nöthen, Markus M and Nürnberg, Peter and O’Brien, Terence J and Oliver, Karen L and ... and Int League Against Epilepsy Conso and International League Against Epilepsy Consortium on Complex Epilepsies and The International League Against Epilepsy Consortium on Complex Epilepsies
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 5269 - 15
Journal Article
Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. Methods... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
Journal Article
Epilepsia, ISSN 0013-9580, 12/2015, Volume 56, Issue 12, pp. e203 - e208
Journal Article
Journal Article
Zeitschrift für Epileptologie, ISSN 1617-6782, 05/2019, Volume 32, Issue 2, pp. 107 - 115
Journal Article
Zeitschrift fur Epileptologie, ISSN 1617-6782, 05/2019, Volume 32, Issue 2, p. 107
Das Dravet-Syndrom beschreibt eine seltene, im ersten Lebensjahr beginnende und meist therapieschwierig verlaufende Epilepsieform des Kindesalters. Ursachlich... 
Care and treatment | Orphan drugs | Comorbidity | Epilepsy | Fenfluramine | Seizures (Medicine)
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 967 - 975
Journal Article