检索结果 - Costin Leu

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  1. 1
    Are <scp>AI</scp> language models such as <scp>ChatGPT</scp> ready to improve the care of individuals with epilepsy?

    Are <scp>AI</scp> language models such as <scp>ChatGPT</scp> ready to improve the care of individuals with epilepsy? 由 Christian M. Boßelmann, Costin Leu, Dennis Lal

    出版 2023
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  2. 2
    Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

    Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis 由 Arthur Stefanski, Yamile Calle‐López, Costin Leu, Eduardo Pérez‐Palma, Elia M. Pestana-Knight, Dennis Lal

    出版 2020
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  3. 3
    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants 由 Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds, Amanda Lindy, Dianalee McKnight, Costin Leu, Sameer M. Zuberi, Andreas Brunklaus, Rikke S. Møller, Dennis Lal

    出版 2020
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  4. 4
    Genetic correlation between background EEG oscillations and genetic generalized epilepsy

    Genetic correlation between background EEG oscillations and genetic generalized epilepsy 由 Remi Stevelink, Jurjen J. Luykx, Bochao Lin, Costin Leu, Dennis Lal, Alexander Smith, Dick Schijven, Johannes A. Carpay, Koen Rademaker, Roiza A. Rodrigues Baldez, Kees P. J. Braun, Floor E. Jansen, affiliations, Dirk J. A. Smit, Bobby P.C. Koeleman

    出版 2019
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  5. 5
    Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

    Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 由 Remi Stevelink, Jurjen J. Luykx, Bochao Lin, Costin Leu, Dennis Lal, Alexander Smith, Dick Schijven, Johannes A. Carpay, Koen Rademaker, Roiza A. Rodrigues Baldez, Orrin Devinsky, Kees P. J. Braun, Floor E. Jansen, Dirk J. A. Smit, Bobby P.C. Koeleman

    出版 2021
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  6. 6
    Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

    Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance 由 Leanne M. Dibbens, Saul A. Mullen, Katherine L. Helbig, Heather C. Mefford, Marta A. Bayly, Susannah T. Bellows, Costin Leu, Holger Trucks, Tanja Obermeier, Michael Wittig, André Franke, Hande Çağlayan, Zühal Yapıcı, T. Sander, Evan E. Eichler, Ingrid E. Scheffer, John C. Mulley, Samuel F. Berkovic

    出版 2009
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  7. 7
    <i>SSBP1</i> mutations in dominant optic atrophy with variable retinal degeneration

    <i>SSBP1</i> mutations in dominant optic atrophy with variable retinal degeneration 由 Neringa Jurkutė, Costin Leu, Hans‐Martin Pogoda, Gavin Arno, Anthony G. Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad R. Toliat, Kate Powell, Wolfgang Höhne, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Matthias Hammerschmidt, Peter Nürnberg, Patrick Yu‐Wai‐Man, Marcela Votruba

    出版 2019
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  8. 8
    Postictal Psychosis in Epilepsy: A Clinicogenetic Study

    Postictal Psychosis in Epilepsy: A Clinicogenetic Study 由 Vera Braatz, Helena Martins Custodio, Costin Leu, Luigi Agró, Baihan Wang, Stella Calafato, Genevieve Rayner, Michael G. Doyle, Christian Hengsbach, Francesca Bisulli, Yvonne G. Weber, Antonio Gambardella, Norman Delanty, Gianpiero L. Cavalleri, Jacqueline Foong, Ingrid E. Scheffer, Samuel F. Berkovic, Elvira Bramon, Simona Balestrini, Sanjay M. Sisodiya

    出版 2021
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  9. 9
    Polygenic burden in focal and generalized epilepsies

    Polygenic burden in focal and generalized epilepsies 由 Costin Leu, Remi Stevelink, Alexander C.W. Smith, Slavina Goleva, Masahiro Kanai, Lisa Ferguson, Ciarán Campbell, Yoichiro Kamatani, Yukinori Okada, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Bobby P.C. Koeleman, Holger Lerche, Lara Jehi, Lea K. Davis, Imad Najm, Aarno Palotie, Mark J Daly, Robyn M. Busch, Dennis Lal

    出版 2019
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  10. 10
    Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy

    Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy 由 Dennis Lal, Holger Trucks, Rikke S. Møller, Helle Hjalgrim, Bobby P.C. Koeleman, Carolien G. F. de Kovel, Frank Visscher, Yvonne G. Weber, Holger Lerche, Felicitas Becker, Christoph J. Schankin, Bernd A. Neubauer, Rainer Surges, Wolfram S. Kunz, Fritz Zimprich, André Franke, Thomas Illig, Janina S. Ried, Costin Leu, Peter Nürnberg, Thomas Sander

    出版 2013
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  11. 11
    Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

    Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study 由 Roope Männikkö, Leonie C.H. Wong, David J. Tester, Michael G. Thor, Richa Sud, Dimitri M. Kullmann, Mary G. Sweeney, Costin Leu, Sanjay M. Sisodiya, David Fitzpatrick, Margaret J. Evans, Iona Jeffrey, Jacob Tfelt‐Hansen, Marta C. Cohen, Peter Fleming, Amie Jaye, Michael A. Simpson, Michael J. Ackerman, Michael G. Hanna, Elijah R. Behr, Emma Matthews

    出版 2018
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  12. 12
    The role of common genetic variation in presumed monogenic epilepsies

    The role of common genetic variation in presumed monogenic epilepsies 由 Ciarán Campbell, Costin Leu, Yen‐Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin A. Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine A. Benson, Anne M. Molloy, Lawrence C. Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay M. Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri

    出版 2022
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  13. 13
    The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

    The genomic landscape across 474 surgically accessible epileptogenic human brain lesions 由 Javier A. López-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann, Roland Coras, Katja Kobow, Nisha Bhattarai, Eduardo Pérez‐Palma, Hajo M. Hamer, Sebastian Brandner, Karl Rössler, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Elizabeth Butler, Giulio Genovese, Kerstin Becker, Janine Altmüller, Lisa-Marie Niestroj, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal

    出版 2022
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  14. 14
    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy 由 Costin Leu, Simona Balestrini, Bridget H. Maher, Laura Hernandez‐Hernandez, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha E. Schoeler, Jan Nový, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O’Regan, William Owen Pickrell, Rhys H. Thomas, Seo‐Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya

    出版 2015
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  15. 15
    Genome-wide association meta-analyses of drug-resistant epilepsy

    Genome-wide association meta-analyses of drug-resistant epilepsy 由 Costin Leu, Andreja Avberšek, Remi Stevelink, Helena Martins Custodio, Siwei Chen, Doug Speed, Caitlin A. Bennett, Lina Jönsson, Unnur Unnsteinsdóttir, Andrea Jorgensen, Gianpiero L. Cavalleri, Norman Delanty, John Craig, Chantal Depondt, Michael R. Johnson, Bobby P.C. Koeleman, Emadeldin Hassanin, Maryam Omidvar, Roland Krause, Holger Lerche, Anthony G Marson, Terence J. O’Brien, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Hreinn Stefánsson, Hreinn Stefánsson, Patrick May, Benjamin M. Neale, Dennis Lal, Samuel F. Berkovic, Sanjay M. Sisodiya

    出版 2025
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  16. 16
    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 由 Katherine L. Helbig, Heather C. Mefford, Andrew J. Sharp, Michel Guipponi, Marco Fichera, André Franke, Hiltrud Muhle, Carolien G. F. de Kovel, Carl Baker, Sarah von Spiczak, Katherine L. Kron, Ines Steinich, Ailing A. Kleefuß‐Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Fritz Zimprich, L Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit‐Jan de Haan, Rikke S. Møller, Helle Hjalgrim, D Luciano, Michael Wittig, Michael Nothnagel, Christian E. Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P.C. Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E. Eichler, Thomas Sander

    出版 2009
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  17. 17
    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies 由 Carolien G. F. de Kovel, Holger Trucks, Katherine L. Helbig, Heather C. Mefford, Carl Baker, Costin Leu, Christian Kluck, Hiltrud Muhle, Sarah von Spiczak, P Ostertag, Tanja Obermeier, Ailing A. Kleefuß‐Lie, Kerstin Hallmann, Michael Steffens, Verena Gaus, Karl Martin Klein, Hajo M. Hamer, Felix Rosenow, Eva H. Brilstra, Dorothee Kasteleijn‐Nolst Trenité, Mariëlle E.M. Swinkels, Yvonne G. Weber, Iris Unterberger, Fritz Zimprich, L Urak, Martha Feucht, Karoline Fuchs, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, I.-M. Ruckert, H.‐Erich Wichmann, André Franke, S. Schreiber, Peter Nürnberg, Christian E. Elger, Holger Lerche, Ulrich Stephani, Bobby P.C. Koeleman, Dick Lindhout, Evan E. Eichler, T. Sander

    出版 2009
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  18. 18
    <i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy

    <i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy 由 Elizabeth Galizia, Candace T. Myers, Costin Leu, Carolien G. F. de Kovel, Tatiana Afrikanova, María Lorena Cordero-Maldonado, Teresa G. Martins, Maxime Jacmin, Suzanne Drury, Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S. Møller, Hölger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, C. R. Boustred, Amy L. Schneider, Nicholas Lench, Bosanka Jocić-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G. Sadleir, Saul A. Mullen, Samuel F. Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D. Crawford, Camila V. Esguerra, Dorothee Kasteleijn‐Nolst Trenité, Bobby P.C. Koeleman, Heather C. Mefford, Ingrid E. Scheffer, Sanjay M. Sisodiya

    出版 2015
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  19. 19
    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations

    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations 由 Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna A. Jaehn, Anna‐Kaisa Anttonen, Eva H. Brilstra, Hande Çağlayan, Carolien G. F. de Kovel, Christel Depienne, Eija Gaily, Elena Di Gennaro, Beatriz G. Giráldez, Padhraig Gormley, Rosa Guerrero, Renzo Guerrini, Eija Hämäläinen, Corinna Hartmann, Laura Hernandez‐Hernandez, Helle Hjalgrim, Bobby P.C. Koeleman, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Costin Leu, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Marjan J. A. van Kempen, Nienke E. Verbeek, Sunay Usluer, Federico Zara, Aarno Palotie, Heather C. Mefford, Ingrid E. Scheffer, Peter De Jonghe, Ingo Helbig, Arvid Suls

    出版 2016
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  20. 20
    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A 由 Dalia Kasperavičiūtė, Claudia B. Catarino, Mar Matarín, Costin Leu, Jan Nový, Anna Tostevin, Bárbara Leal, Ellen V.S. Hessel, Kerstin Hallmann, Michael S. Hildebrand, Hans‐Henrik M. Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P. Doherty, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J. Steinhoff, Dominik Zumsteg, Susan Duncan, Reetta Kälviäinen, Kai Eriksson, Anne-Mari Kantanen, Massimo Pandolfo, U Gruber‐Sedlmayr, Kurt Schlachter, Eva M. Reinthaler, Elisabeth Stögmann, Fritz Zimprich, Emilie Théâtre, Colin Smith, Terence J. O’Brien, K. Meng Tan, Slavé Petrovski, Angela Robbiano, Roberta Paravidino, Federico Zara, Pasquale Striano, Michael R. Sperling, Russell J. Buono, Hákon Hákonarson, João Chaves, Paulo Costa, Berta Martins da Silva, António Martins da Silva, P.N.E. de Graan, Bobby P.C. Koeleman, Albert J. Becker, Susanne Schoch, Marec von Lehe, Philipp S. Reif, Felix Rosenow, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Karl Rössler, Michael Buchfelder, Hajo M. Hamer, Katja Kobow, Roland Coras, Ingmar Blümcke, Ingrid E. Scheffer, Samuel F. Berkovic, Michael E. Weale, Norman Delanty, Chantal Depondt, Gianpiero L. Cavalleri, Wolfram S. Kunz, Sanjay M. Sisodiya

    出版 2013
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