Journal article 806 views
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Lisa-Marie Niestroj ,
Eduardo Perez-Palma,
Daniel P Howrigan,
Yadi Zhou,
Feixiong Cheng,
Elmo Saarentaus ,
Peter Nürnberg,
Remi Stevelink,
Mark J Daly,
Aarno Palotie,
Dennis Lal,
Yen-Chen Anne Feng,
Daniel P Howrigan,
Liam E Abbott,
Katherine Tashman,
Felecia Cerrato,
Dennis Lal,
Claire Churchhouse,
Namrata Gupta,
Benjamin M Neale,
Samuel F Berkovic,
Holger Lerche,
David B Goldstein,
Daniel H Lowenstein,
Gianpiero L Cavalleri,
Patrick Cossette,
Chris Cotsapas,
Peter De Jonghe,
Tracy Dixon-Salazar,
Renzo Guerrini,
Hakon Hakonarson,
Erin L Heinzen,
Ingo Helbig,
Patrick Kwan,
Anthony G Marson,
Slavé Petrovski,
Sitharthan Kamalakaran,
Sanjay M Sisodiya,
Randy Stewart,
Sarah Weckhuysen,
Chantal Depondt,
Dennis J Dlugos,
Ingrid E Scheffer,
Pasquale Striano,
Catharine Freyer,
Roland Krause,
Patrick May,
Kevin McKenna,
Brigid M Regan,
Susannah T Bellows,
Costin Leu,
Brigid M Regan,
Caitlin A Bennett,
Susannah T Bellows,
Esther C Johns,
Alexandra Macdonald,
Hannah Shilling,
Rosemary Burgess,
Dorien Weckhuysen,
Melanie Bahlo,
Terence J O’Brien,
Patrick Kwan,
Slavé Petrovski,
Marian Todaro,
Sarah Weckhuysen,
Hannah Stamberger,
Peter De Jonghe,
Chantal Depondt,
Danielle M Andrade,
Tara R Sadoway,
Kelly Mo,
Heinz Krestel,
Sabina Gallati,
Savvas S Papacostas,
Ioanna Kousiappa,
George A Tanteles,
Katalin Šterbová,
Markéta Vlcková,
Lucie Sedlácková,
Petra Laššuthová,
Karl Martin Klein,
Felix Rosenow,
Philipp S Reif,
Susanne Knake,
Wolfram S Kunz,
Gábor Zsurka,
Christian E Elger,
Jürgen Bauer,
Michael Rademacher,
Manuela Pendziwiat,
Hiltrud Muhle,
Annika Rademacher,
Andreas van Baalen,
Sarah von Spiczak,
Ulrich Stephani,
Zaid Afawi,
Amos D Korczyn,
Moien Kanaan,
Christina Canavati,
Gerhard Kurlemann,
Karen Müller-Schlüter,
Gerhard Kluger,
Martin Häusler,
Ilan Blatt,
Johannes R Lemke,
Ilona Krey,
Yvonne G Weber,
Stefan Wolking,
Felicitas Becker,
Christian Hengsbach,
Sarah Rau,
Ana F Maisch,
Bernhard J Steinhoff,
Andreas Schulze-Bonhage,
Susanne Schubert-Bast,
Herbert Schreiber,
Ingo Borggräfe,
Christoph J Schankin,
Thomas Mayer,
Rudolf Korinthenberg,
Knut Brockmann,
Gerhard Kurlemann,
Dieter Dennig,
Rene Madeleyn,
Reetta Kälviäinen,
Pia Auvinen,
Anni Saarela,
Tarja Linnankivi,
Anna-Elina Lehesjoki,
Mark I Rees,
Seo-Kyung Chung,
William O Pickrell,
Robert Powell,
Sanjay M Sisodiya,
Natascha Schneider,
Simona Balestrini,
Sara Zagaglia,
Vera Braatz,
Anthony G Marson,
Michael R Johnson,
Pauls Auce,
Graeme J Sills,
Patrick Kwan,
Larry W Baum,
Pak C Sham,
Stacey S Cherny,
Colin H T Lui,
Nina Barišic,
Gianpiero L Cavalleri,
Norman Delanty,
Colin P Doherty,
Arif Shukralla,
Mark McCormack,
Hany El-Naggar,
Laura Canafoglia,
Silvana Franceschetti,
Barbara Castellotti,
Tiziana Granata,
Pasquale Striano,
Federico Zara,
Michele Iacomino,
Francesca Madia,
Maria Stella Vari,
Maria Margherita Mancardi,
Vincenzo Salpietro,
Francesca Bisulli,
Paolo Tinuper,
Laura Licchetta,
Tommaso Pippucci,
Carlotta Stipa,
Lorenzo Muccioli,
Raffaella Minardi,
Antonio Gambardella,
Angelo Labate,
Grazia Annesi,
Lorella Manna,
Monica Gagliardi,
Elena Parrini,
Davide Mei,
Annalisa Vetro,
Claudia Bianchini,
Martino Montomoli,
Viola Doccini,
Carla Marini,
Toshimitsu Suzuki,
Yushi Inoue,
Kazuhiro Yamakawa,
Birute Tumiene,
Ruta Mameniskiene,
Algirdas Utkus,
Ruta Praninskiene,
Jurgita Grikiniene,
Ruta Samaitiene,
Lynette G Sadleir,
Chontelle King,
Emily Mountier,
S Hande Caglayan,
Mutluay Arslan,
Zuhal Yapici,
Uluc Yis,
Pinar Topaloglu,
Bulent Kara,
Dilsad Turkdogan,
Asli Gundogdu-Eken,
Nerses Bebek,
Sibel Ugur-Iseri,
Betül Baykan,
Baris Salman,
Garen Haryanyan,
Emrah Yücesan,
Yesim Kesim,
Çigdem Özkara,
Beth R Sheidley,
Catherine Shain,
Annapurna Poduri,
Russell J Buono,
Thomas N Ferraro,
Michael R Sperling,
Dennis J Dlugos,
Warren Lo,
Michael Privitera,
Jacqueline A French,
Patrick Cossette,
Steven Schachter,
Hakon Hakonarson,
Ruben I Kuzniecky,
Dennis J Dlugos,
Orrin Devinsky,
Ruben I Kuzniecky,
Jacqueline A French,
Manu Hegde,
Pouya Khankhanian,
Katherine L Helbig,
Colin A Ellis,
Gianfranco Spalletta,
Fabrizio Piras,
Federica Piras,
Tommaso Gili,
Valentina Ciullo,
(the Epi25 Collaborative)
Brain, Volume: 143, Issue: 7, Pages: 2106 - 2118
Swansea University Author: Robert Powell
Full text not available from this repository: check for access using links below.
DOI (Published version): 10.1093/brain/awaa171
Abstract
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Published in: | Brain |
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ISSN: | 0006-8950 1460-2156 |
Published: |
Oxford University Press (OUP)
2020
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Online Access: |
Check full text
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URI: | https://cronfa.swan.ac.uk/Record/cronfa60622 |
first_indexed |
2022-08-15T10:33:41Z |
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last_indexed |
2023-01-13T19:20:53Z |
id |
cronfa60622 |
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SURis |
fullrecord |
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CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (PIs: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan).</funders><projectreference/><lastEdited>2022-08-15T11:34:27.5030115</lastEdited><Created>2022-07-25T11:14:46.2160150</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">Swansea University Medical School - Medicine</level></path><authors><author><firstname>Lisa-Marie</firstname><surname>Niestroj</surname><orcid>0000-0002-6986-0549</orcid><order>1</order></author><author><firstname>Eduardo</firstname><surname>Perez-Palma</surname><order>2</order></author><author><firstname>Daniel 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2022-08-15T11:34:27.5030115 v2 60622 2022-07-25 Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects 7c8ac48bb6ae4281930e4138f94a51b6 Robert Powell Robert Powell true false 2022-07-25 Journal Article Brain 143 7 2106 2118 Oxford University Press (OUP) 0006-8950 1460-2156 copy number variation, epilepsy, genetic generalized epilepsy, developmental and epileptic encephalopathy, focal epilepsy 1 7 2020 2020-07-01 10.1093/brain/awaa171 COLLEGE NANME COLLEGE CODE Swansea University This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (PIs: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan). 2022-08-15T11:34:27.5030115 2022-07-25T11:14:46.2160150 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Lisa-Marie Niestroj 0000-0002-6986-0549 1 Eduardo Perez-Palma 2 Daniel P Howrigan 3 Yadi Zhou 4 Feixiong Cheng 5 Elmo Saarentaus 0000-0002-8475-7187 6 Peter Nürnberg 7 Remi Stevelink 8 Mark J Daly 9 Aarno Palotie 10 Dennis Lal 11 Yen-Chen Anne Feng 12 Daniel P Howrigan 13 Liam E Abbott 14 Katherine Tashman 15 Felecia Cerrato 16 Dennis Lal 17 Claire Churchhouse 18 Namrata Gupta 19 Benjamin M Neale 20 Samuel F Berkovic 21 Holger Lerche 22 David B Goldstein 23 Daniel H Lowenstein 24 Gianpiero L Cavalleri 25 Patrick Cossette 26 Chris Cotsapas 27 Peter De Jonghe 28 Tracy Dixon-Salazar 29 Renzo Guerrini 30 Hakon Hakonarson 31 Erin L Heinzen 32 Ingo Helbig 33 Patrick Kwan 34 Anthony G Marson 35 Slavé Petrovski 36 Sitharthan Kamalakaran 37 Sanjay M Sisodiya 38 Randy Stewart 39 Sarah Weckhuysen 40 Chantal Depondt 41 Dennis J Dlugos 42 Ingrid E Scheffer 43 Pasquale Striano 44 Catharine Freyer 45 Roland Krause 46 Patrick May 47 Kevin McKenna 48 Brigid M Regan 49 Susannah T Bellows 50 Costin Leu 51 Brigid M Regan 52 Caitlin A Bennett 53 Susannah T Bellows 54 Esther C Johns 55 Alexandra Macdonald 56 Hannah Shilling 57 Rosemary Burgess 58 Dorien Weckhuysen 59 Melanie Bahlo 60 Terence J O’Brien 61 Patrick Kwan 62 Slavé Petrovski 63 Marian Todaro 64 Sarah Weckhuysen 65 Hannah Stamberger 66 Peter De Jonghe 67 Chantal Depondt 68 Danielle M Andrade 69 Tara R Sadoway 70 Kelly Mo 71 Heinz Krestel 72 Sabina Gallati 73 Savvas S Papacostas 74 Ioanna Kousiappa 75 George A Tanteles 76 Katalin Šterbová 77 Markéta Vlcková 78 Lucie Sedlácková 79 Petra Laššuthová 80 Karl Martin Klein 81 Felix Rosenow 82 Philipp S Reif 83 Susanne Knake 84 Wolfram S Kunz 85 Gábor Zsurka 86 Christian E Elger 87 Jürgen Bauer 88 Michael Rademacher 89 Manuela Pendziwiat 90 Hiltrud Muhle 91 Annika Rademacher 92 Andreas van Baalen 93 Sarah von Spiczak 94 Ulrich Stephani 95 Zaid Afawi 96 Amos D Korczyn 97 Moien Kanaan 98 Christina Canavati 99 Gerhard Kurlemann 100 Karen Müller-Schlüter 101 Gerhard Kluger 102 Martin Häusler 103 Ilan Blatt 104 Johannes R Lemke 105 Ilona Krey 106 Yvonne G Weber 107 Stefan Wolking 108 Felicitas Becker 109 Christian Hengsbach 110 Sarah Rau 111 Ana F Maisch 112 Bernhard J Steinhoff 113 Andreas Schulze-Bonhage 114 Susanne Schubert-Bast 115 Herbert Schreiber 116 Ingo Borggräfe 117 Christoph J Schankin 118 Thomas Mayer 119 Rudolf Korinthenberg 120 Knut Brockmann 121 Gerhard Kurlemann 122 Dieter Dennig 123 Rene Madeleyn 124 Reetta Kälviäinen 125 Pia Auvinen 126 Anni Saarela 127 Tarja Linnankivi 128 Anna-Elina Lehesjoki 129 Mark I Rees 130 Seo-Kyung Chung 131 William O Pickrell 132 Robert Powell 133 Sanjay M Sisodiya 134 Natascha Schneider 135 Simona Balestrini 136 Sara Zagaglia 137 Vera Braatz 138 Anthony G Marson 139 Michael R Johnson 140 Pauls Auce 141 Graeme J Sills 142 Patrick Kwan 143 Larry W Baum 144 Pak C Sham 145 Stacey S Cherny 146 Colin H T Lui 147 Nina Barišic 148 Gianpiero L Cavalleri 149 Norman Delanty 150 Colin P Doherty 151 Arif Shukralla 152 Mark McCormack 153 Hany El-Naggar 154 Laura Canafoglia 155 Silvana Franceschetti 156 Barbara Castellotti 157 Tiziana Granata 158 Pasquale Striano 159 Federico Zara 160 Michele Iacomino 161 Francesca Madia 162 Maria Stella Vari 163 Maria Margherita Mancardi 164 Vincenzo Salpietro 165 Francesca Bisulli 166 Paolo Tinuper 167 Laura Licchetta 168 Tommaso Pippucci 169 Carlotta Stipa 170 Lorenzo Muccioli 171 Raffaella Minardi 172 Antonio Gambardella 173 Angelo Labate 174 Grazia Annesi 175 Lorella Manna 176 Monica Gagliardi 177 Elena Parrini 178 Davide Mei 179 Annalisa Vetro 180 Claudia Bianchini 181 Martino Montomoli 182 Viola Doccini 183 Carla Marini 184 Toshimitsu Suzuki 185 Yushi Inoue 186 Kazuhiro Yamakawa 187 Birute Tumiene 188 Ruta Mameniskiene 189 Algirdas Utkus 190 Ruta Praninskiene 191 Jurgita Grikiniene 192 Ruta Samaitiene 193 Lynette G Sadleir 194 Chontelle King 195 Emily Mountier 196 S Hande Caglayan 197 Mutluay Arslan 198 Zuhal Yapici 199 Uluc Yis 200 Pinar Topaloglu 201 Bulent Kara 202 Dilsad Turkdogan 203 Asli Gundogdu-Eken 204 Nerses Bebek 205 Sibel Ugur-Iseri 206 Betül Baykan 207 Baris Salman 208 Garen Haryanyan 209 Emrah Yücesan 210 Yesim Kesim 211 Çigdem Özkara 212 Beth R Sheidley 213 Catherine Shain 214 Annapurna Poduri 215 Russell J Buono 216 Thomas N Ferraro 217 Michael R Sperling 218 Dennis J Dlugos 219 Warren Lo 220 Michael Privitera 221 Jacqueline A French 222 Patrick Cossette 223 Steven Schachter 224 Hakon Hakonarson 225 Ruben I Kuzniecky 226 Dennis J Dlugos 227 Orrin Devinsky 228 Ruben I Kuzniecky 229 Jacqueline A French 230 Manu Hegde 231 Pouya Khankhanian 232 Katherine L Helbig 233 Colin A Ellis 234 Gianfranco Spalletta 235 Fabrizio Piras 236 Federica Piras 237 Tommaso Gili 238 Valentina Ciullo 239 (the Epi25 Collaborative) 240 |
title |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects |
spellingShingle |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects Robert Powell |
title_short |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects |
title_full |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects |
title_fullStr |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects |
title_full_unstemmed |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects |
title_sort |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects |
author_id_str_mv |
7c8ac48bb6ae4281930e4138f94a51b6 |
author_id_fullname_str_mv |
7c8ac48bb6ae4281930e4138f94a51b6_***_Robert Powell |
author |
Robert Powell |
author2 |
Lisa-Marie Niestroj Eduardo Perez-Palma Daniel P Howrigan Yadi Zhou Feixiong Cheng Elmo Saarentaus Peter Nürnberg Remi Stevelink Mark J Daly Aarno Palotie Dennis Lal Yen-Chen Anne Feng Daniel P Howrigan Liam E Abbott Katherine Tashman Felecia Cerrato Dennis Lal Claire Churchhouse Namrata Gupta Benjamin M Neale Samuel F Berkovic Holger Lerche David B Goldstein Daniel H Lowenstein Gianpiero L Cavalleri Patrick Cossette Chris Cotsapas Peter De Jonghe Tracy Dixon-Salazar Renzo Guerrini Hakon Hakonarson Erin L Heinzen Ingo Helbig Patrick Kwan Anthony G Marson Slavé Petrovski Sitharthan Kamalakaran Sanjay M Sisodiya Randy Stewart Sarah Weckhuysen Chantal Depondt Dennis J Dlugos Ingrid E Scheffer Pasquale Striano Catharine Freyer Roland Krause Patrick May Kevin McKenna Brigid M Regan Susannah T Bellows Costin Leu Brigid M Regan Caitlin A Bennett Susannah T Bellows Esther C Johns Alexandra Macdonald Hannah Shilling Rosemary Burgess Dorien Weckhuysen Melanie Bahlo Terence J O’Brien Patrick Kwan Slavé Petrovski Marian Todaro Sarah Weckhuysen Hannah Stamberger Peter De Jonghe Chantal Depondt Danielle M Andrade Tara R Sadoway Kelly Mo Heinz Krestel Sabina Gallati Savvas S Papacostas Ioanna Kousiappa George A Tanteles Katalin Šterbová Markéta Vlcková Lucie Sedlácková Petra Laššuthová Karl Martin Klein Felix Rosenow Philipp S Reif Susanne Knake Wolfram S Kunz Gábor Zsurka Christian E Elger Jürgen Bauer Michael Rademacher Manuela Pendziwiat Hiltrud Muhle Annika Rademacher Andreas van Baalen Sarah von Spiczak Ulrich Stephani Zaid Afawi Amos D Korczyn Moien Kanaan Christina Canavati Gerhard Kurlemann Karen Müller-Schlüter Gerhard Kluger Martin Häusler Ilan Blatt Johannes R Lemke Ilona Krey Yvonne G Weber Stefan Wolking Felicitas Becker Christian Hengsbach Sarah Rau Ana F Maisch Bernhard J Steinhoff Andreas Schulze-Bonhage Susanne Schubert-Bast Herbert Schreiber Ingo Borggräfe Christoph J Schankin Thomas Mayer Rudolf Korinthenberg Knut Brockmann Gerhard Kurlemann Dieter Dennig Rene Madeleyn Reetta Kälviäinen Pia Auvinen Anni Saarela Tarja Linnankivi Anna-Elina Lehesjoki Mark I Rees Seo-Kyung Chung William O Pickrell Robert Powell Sanjay M Sisodiya Natascha Schneider Simona Balestrini Sara Zagaglia Vera Braatz Anthony G Marson Michael R Johnson Pauls Auce Graeme J Sills Patrick Kwan Larry W Baum Pak C Sham Stacey S Cherny Colin H T Lui Nina Barišic Gianpiero L Cavalleri Norman Delanty Colin P Doherty Arif Shukralla Mark McCormack Hany El-Naggar Laura Canafoglia Silvana Franceschetti Barbara Castellotti Tiziana Granata Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Maria Stella Vari Maria Margherita Mancardi Vincenzo Salpietro Francesca Bisulli Paolo Tinuper Laura Licchetta Tommaso Pippucci Carlotta Stipa Lorenzo Muccioli Raffaella Minardi Antonio Gambardella Angelo Labate Grazia Annesi Lorella Manna Monica Gagliardi Elena Parrini Davide Mei Annalisa Vetro Claudia Bianchini Martino Montomoli Viola Doccini Carla Marini Toshimitsu Suzuki Yushi Inoue Kazuhiro Yamakawa Birute Tumiene Ruta Mameniskiene Algirdas Utkus Ruta Praninskiene Jurgita Grikiniene Ruta Samaitiene Lynette G Sadleir Chontelle King Emily Mountier S Hande Caglayan Mutluay Arslan Zuhal Yapici Uluc Yis Pinar Topaloglu Bulent Kara Dilsad Turkdogan Asli Gundogdu-Eken Nerses Bebek Sibel Ugur-Iseri Betül Baykan Baris Salman Garen Haryanyan Emrah Yücesan Yesim Kesim Çigdem Özkara Beth R Sheidley Catherine Shain Annapurna Poduri Russell J Buono Thomas N Ferraro Michael R Sperling Dennis J Dlugos Warren Lo Michael Privitera Jacqueline A French Patrick Cossette Steven Schachter Hakon Hakonarson Ruben I Kuzniecky Dennis J Dlugos Orrin Devinsky Ruben I Kuzniecky Jacqueline A French Manu Hegde Pouya Khankhanian Katherine L Helbig Colin A Ellis Gianfranco Spalletta Fabrizio Piras Federica Piras Tommaso Gili Valentina Ciullo (the Epi25 Collaborative) |
format |
Journal article |
container_title |
Brain |
container_volume |
143 |
container_issue |
7 |
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2106 |
publishDate |
2020 |
institution |
Swansea University |
issn |
0006-8950 1460-2156 |
doi_str_mv |
10.1093/brain/awaa171 |
publisher |
Oxford University Press (OUP) |
college_str |
Faculty of Medicine, Health and Life Sciences |
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facultyofmedicinehealthandlifesciences |
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Faculty of Medicine, Health and Life Sciences |
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facultyofmedicinehealthandlifesciences |
hierarchy_parent_title |
Faculty of Medicine, Health and Life Sciences |
department_str |
Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine |
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published_date |
2020-07-01T20:22:26Z |
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