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Nature Genetics, ISSN 1061-4036, 07/2018, Volume 50, Issue 7, pp. 1048 - 1053
Journal Article
by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age | Index Medicus
Journal Article
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Hedrich, Ulrike B. S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexandra and Chantot-Bastaraud, Sandra and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and Van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Friedrich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sandrine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G. Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and De Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1316 - 1336
Journal Article
by Coppola, Antonietta and Cellini, Elena and Stamberger, Hannah and Saarentaus, Elmo and Cetica, Valentina and Lal, Dennis and Djémié, Tania and Bartnik‐Glaska, Magdalena and Ceulemans, Berten and Helen Cross, J and Deconinck, Tine and Masi, Salvatore De and Dorn, Thomas and Guerrini, Renzo and Hoffman‐Zacharska, Dorotha and Kooy, Frank and Lagae, Lieven and Lench, Nicholas and Lemke, Johannes R and Lucenteforte, Ersilia and Madia, Francesca and Mefford, Heather C and Morrogh, Deborah and Nuernberg, Peter and Palotie, Aarno and Schoonjans, An‐Sofie and Striano, Pasquale and Szczepanik, Elzbieta and Tostevin, Anna and Vermeesch, Joris R and Van Esch, Hilde and Van Paesschen, Wim and Waters, Jonathan J and Weckhuysen, Sarah and Zara, Federico and Jonghe, Peter De and Sisodiya, Sanjay M and Marini, Carla and Lehesjioki, Anna‐Elina and Craiu, Dana and Talvik, Tiina and Caglayan, Hande and Serratosa, Jose and Sterbova, Katalin and Møller, Rikke S and Hjalgrim, Helle and Lerche, Holger and Weber, Yvonne and Helbig, Ingo and Spiczak, Sarah and Barba, Carmen and Bogaerts, Anneleen and Boni, Antonella and Galizia, Elisabeth Caruana and Chiari, Sara and Gacomo, Gianpiero and Ferrari, Annarita and Guarducci, Silvia and Giglio, Sabrina and Holmgren, Philip and Leu, Costin and Melani, Federico and Novara, Francesca and Pantaleo, Marilena and Peeters, Elke and Pisano, Tiziana and Rosati, Anna and Sander, Josemir and Schoeler, Natasha and Stankiewicz, Pawel and Striano, Salvatore and Suls, Arvid and Traverso, Monica and Vandeweyer, Geert and Dijck, Anke and Zuffardi, Orsetta and EpiCNV Consortium and EuroEPINOMICS-RES Consortium and EuroEPINOMICS‐RES Consortium
Epilepsia, ISSN 0013-9580, 04/2019, Volume 60, Issue 4, pp. 689 - 706
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1761 - 1770
Journal Article
by Feng, Yen-Chen Anne and Howrigan, Daniel P and Abbott, Liam E and Tashman, Katherine and Cerrato, Felecia and Singh, Tarjinder and Heyne, Henrike and Byrnes, Andrea and Churchhouse, Claire and Watts, Nick and Solomonson, Matthew and Lal, Dennis and Heinzen, Erin L and Dhindsa, Ryan S and Stanley, Kate E and Cavalleri, Gianpiero L and Hakonarson, Hakon and Helbig, Katherine L and Helbig, Ingo and Krause, Roland and May, Patrick and Weckhuysen, Sarah and Weckhuysen, Dorien and Petrovski, Slavé and Kamalakaran, Sitharthan and Sisodiya, Sanjay M and Cossette, Patrick and Cotsapas, Chris and De Jonghe, Peter and Dixon-Salazar, Tracy and Guerrini, Renzo and Kwan, Patrick and Marson, Anthony G and Stewart, Randy and Depondt, Chantal and Dlugos, Dennis J and Scheffer, Ingrid E and Striano, Pasquale and Freyer, Catharine and McKenna, Kevin and Regan, Brigid M and Bellows, Susannah T and Leu, Costin and Bennett, Caitlin A and Johns, Esther M.C and Macdonald, Alexandra and Shilling, Hannah and Burgess, Rosemary and Bahlo, Melanie and O’Brien, Terence J and Todaro, Marian and Stamberger, Hannah and Andrade, Danielle M and Sadoway, Tara R and Mo, Kelly and Krestel, Heinz and Gallati, Sabina and Papacostas, Savvas S and Kousiappa, Ioanna and Tanteles, George A and Štěrbová, Katalin and Vlčková, Markéta and Sedláčková, Lucie and Laššuthová, Petra and Klein, Karl Martin and Rosenow, Felix and Reif, Philipp S and Reif, Andreas and Knake, Susanne and Kunz, Wolfram S and Zsurka, Gábor and Elger, Christian E and Bauer, Jürgen and Rademacher, Michael and Rademacher, Annika and Pendziwiat, Manuela and Muhle, Hiltrud and van Baalen, Andreas and von Spiczak, Sarah and Stephani, Ulrich and Afawi, Zaid and Korczyn, Amos D and Kanaan, Moien and Canavati, Christina and Kurlemann, Gerhard and Müller-Schlüter, Karen and Kluger, Gerhard and Häusler, Martin and Blatt, Ilan and Lemke, Johannes R and Krey, Ilona and Weber, Yvonne G and Wolking, Stefan and Becker, Felicitas and Hengsbach, Christian and Rau, Sarah and Maisch, Ana F and Steinhoff, Bernhard J and Schulze-Bonhage, Andreas and Schubert-Bast, Susanne and ... and Epi25 Collaborative and Genomic Psychiat Cohort GPC Consor
The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 267 - 282
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe... 
epilepsy | seizures | exome | epileptic encephalopathy | burden analysis | sequencing | PROTEIN | METAANALYSIS | DE-NOVO MUTATIONS | VARIANTS | SUSCEPTIBILITY | GENETICS & HEREDITY | EPILEPTIC SEIZURES | GAMMA-2-SUBUNIT | GENOME | EPIDEMIOLOGY | COMMON EPILEPSIES | Psychological aspects | Genetic variation | Epilepsy | Physiological aspects | Genetic aspects | Research | Risk factors | Index Medicus
Journal Article
by Devinsky, Orrin and Rapaport, Mark H and Castellotti, Barbara and Kluger, Gerhard and McQuillin, Andrew and Rees, Mark I and Mountier, Emily and Zsurka, Gabor and Stipa, Carlotta and Bauer, Jurgen and Salpietro, Vincenzo and Krause, Roland and French, Jacqueline A and Guerrini, Renzo and Kousiappa, Ioanna and Palotie, Aarno and Cotsapas, Chris and Manna, Lorella and Cossette, Patrick and Tinuper, Paolo and Bennett, Caitlin A and Hakonarson, Hakon and Inoue, Yushi and Muhle, Hiltrud and Piras, Federica and Lander, Eric S and Stanley, Kate E and Blatt, Ilan and Freyer, Catharine and Bromet, Evelyn J and Byrnes, Andrea and Braatz, Vera and van Baalen, Andreas and Suzuki, Toshimitsu and Pato, Michele T and Kurlemann, Gerhard and Franceschetti, Silvana and Piras, Fabrizio and Hegde, Manu and Todaro, Marian and Dennig, Dieter and Knake, Susanne and Privitera, Michael and Madia, Francesca and Mo, Kelly and Iacomino, Michele and Tanteles, George A and Gabriel, Stacey B and Rosenow, Felix and Ugur-Iseri, Sibel and Chung, Seo-Kyung and Schneider, Natascha and Delanty, Norman and Churchhouse, Claire and Shilling, Hannah and Rademacher, Annika and Helbig, Katherine L and Buono, Russell J and Bisulli, Francesca and Arslan, Mutluay and Schreiber, Herbert and Yamakawa, Kazuhiro and Berkovic, Samuel F and Sterbova, Katalin and Lal, Dennis and King, Chontelle and Canavati, Christina and Lui, Colin H.T and Sadoway, Tara R and Wolking, Stefan and Sham, Pak C and Hausler, Martin and Andrade, Danielle M and Sills, Graeme J and Borggrafe, Ingo and Baykan, Betul and Leu, Costin and Dlugos, Dennis J and Krestel, Heinz and Krey, Ilona and Schulze-Bonhage, Andreas and Kesim, Yesim and Baum, Larry W and Stamberger, Hannah and Gallati, Sabina and Pato, Carlos N and Mancardi, Maria Margherita and Cherny, Stacey S and McCarroll, Steven A and Pendziwiat, Manuela and Marini, Carla and Granata, Tiziana and Gili, Tommaso and Madeleyn, Rene and Weckhuysen, Dorien and Hengsbach, Christian and Regan, Brigid M and Elger, Christian E and Lemke, Johannes R and Kuzniecky, Ruben I and ...
American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, p. 267
Epi25 Collaborative (*) Keywords epilepsy; seizures; epileptic encephalopathy; exome; sequencing; burden analysis Sequencing-based studies have identified... 
Journal Article
Journal Article