Search Results - Brigid M. Regan

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  1. 1
    Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability

    Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability by Felippe Borlot, Brigid M. Regan, Anne S. Bassett, Dimitri J. Stavropoulos, Danielle M. Andrade

    Published 2017
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  2. 2
    Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

    Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy by Richard D. Bagnall, Douglas E. Crompton, Slavé Petrovski, Lien Lam, Carina Cutmore, Sarah Garry, Lynette G. Sadleir, Leanne M. Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M. Regan, Johan Duflou, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher Semsarian

    Published 2015
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  3. 3
    A targeted resequencing gene panel for focal epilepsy

    A targeted resequencing gene panel for focal epilepsy by Michael S. Hildebrand, Candace T. Myers, Gemma L. Carvill, Brigid M. Regan, John A. Damiano, Saul A. Mullen, Mark R. Newton, Umesh Nair, Elena V. Gazina, Carol J. Milligan, Christopher A. Reid, Steven Petrou, Ingrid E. Scheffer, Samuel F. Berkovic, Heather C. Mefford

    Published 2016
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  4. 4
    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy

    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy by Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan, Jacinta M. McMahon, Julia Saykally, Matthew Zemel, Amy L. Schneider, Leanne M. Dibbens, Katherine B. Howell, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Saul A. Mullen, Samuel F. Berkovic, Joseph Sullivan, Ingrid E. Scheffer, Heather C. Mefford

    Published 2015
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  5. 5
    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies by D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    Published 2024
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  6. 6
    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies by Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

    Published 2022
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  7. 7
    GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders by Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle, Brian J. O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G. Sadleir, Samantha J. Turner, Meng‐Han Tsai, Richard Webster, Robert Ouvrier, John A. Damiano, Samuel F. Berkovic, Jay Shendure, Michael S. Hildebrand, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford

    Published 2013
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  8. 8
    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures by Candace T. Myers, Nicholas Stong, Emily Mountier, Katherine L. Helbig, Saskia Freytag, Joseph Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen Oliver, Michelle Ernst, Natalie Lippa, Maureen Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen

    Published 2017
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  9. 9
    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies by Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James M.J. Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam H. Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, R Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Çağlayan, Katalin Štěrbová, Dana Craiu, Dorota Hoffman, Anna‐Elina Lehesjoki, Kaja Kristine Selmer, Christel Depienne, Johannes R. Lemke, Carla Marini, Renzo Guerrini, Bernd A. Neubauer, Tiina Talvik, Eric Leguern, Peter De Jonghe, Sarah Weckhuysen

    Published 2018
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  10. 10
    Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

    Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects by Lisa‐Marie Niestroj, Eduardo Pérez‐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 Abbott, Katherine Tashman, Felecia Cerrato, Dennis Lal, Tracy Air, 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, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. 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, Sarah 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 Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, 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

    Published 2020
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  11. 11
    The Epilepsy Phenome/Genome Project

    The Epilepsy Phenome/Genome Project by Kathleen R. McGovern, Nora Stillman, Kevin E. McKenna, Vickie M. Mays, Michael Williams, Alan Carpenter, Kevin F. Miller, Prashant Agarwal, J O Caceres S Manzoor S Moncayo J A Ayala, Cate Bakey, Thomas Borkowski, Riann Boyd, Alicia Camuto, Cendy Carrasco, Jennifer Cassarly, Yong Collins, Kevin Collon, Sean Collon, Heather Eckman, Susan Fogarty, Dolores González Morón, La June Grayson, Samantha Hagopian, Emily Hayden, Kristin Heggeli, Rachel Hennessy, Jody Hessling, Emily Hirschfield, Jennifer L. Howell, Sherry Klingerman, M Canelón de López, Heather Marinelli, Brandy Maschhaupt, Jennie Minnick, Jade Misajon, Jennifer L. Monahan, Karen Oliver, Isha Parulkar, Laura Przepiorka, Paula L. Pyzik, Brigid M. Regan, Catherine Shain, Lexie Slingerland, Caitlin Stanton, Kelly Taylor, Stacy Thompson, Jennifer Turczyk, Alexander D. Vara, Cindy Wesolowski, Andrew Yourich

    Published 2013
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  12. 12
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders by Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Published 2019
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  13. 13
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 by Mark Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron M. Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid M. Regan, Douglas E. Crompton, Anne‐Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin A. Smith, Alfredo Berardelli, Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Eric LeGuern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz

    Published 2019
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  14. 14
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals by Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    Published 2019
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  15. 15
    16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

    16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy by Eva M. Reinthaler, Dennis Lal, Sébastien Lebon, Michael S. Hildebrand, Hans‐Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, U Gruber‐Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Mélanie Waldenberger, André Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather C. Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, J. Beckmann, Thomas Sander, Sébastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Julia Geldner, U Gruber‐Sedlmayr, Edda Haberlandt, Gabriel M. Ronen, Laurian Roche, Dennis Lal, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A. Neubauer, Fritz Zimprich, Martina Mörzinger, Martha Feucht, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S. Møller, Laura L. Klitten, Helle Hjalgrim, Rikke S. Møller, Kiel Campus, Ingo Helbig, Hiltrud Muhle, P Ostertag, Sarah von Spiczak, Ulrich Stephani, Peter Nürnberg, Thomas Sander, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß‐Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Diéter Janz, Thomas Sander, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Bobby P.C. Koeleman, Carolien G. F. de Kovel, Dick Lindhout, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute

    Published 2014
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  16. 16
    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study by Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero L. Cavalleri, Seo‐Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, David B. Goldstein, Erin L. Heinzen, Michael S. Hildebrand, Michael R. Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Anthony G Marson, Richard Mayeux, Caroline M. Mebane, Heather C. Mefford, Terence J. O’Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William Owen Pickrell, Annapurna Poduri, Rodney A. Radtke, Mark I. Rees, Brigid M. Regan, Zhong Ren, Ingrid E. Scheffer, Graeme J. Sills, Rhys H. Thomas, Quanli Wang, Bassel Abou‐Khalil, Brian K. Alldredge, Dina Amrom, Eva Andermann, Frédérick Andermann, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory D. Cascino, D. Consalvo, Patricia K. Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miquel Fiol, Nathan B. Fountain, Jacqueline A. French, Catharine Freyer, Daniel J. Friedman, Eric B. Geller, Tracy A. Glauser, Simon Glynn, Kevin F. Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta M. Joshi, Andrés M. Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Paul Motika, Edward J. Novotny, Ruth Ottman, Juliann Paolicchi, Jack M. Parent, Kristen Park, Annapurna Poduri, Lynette G. Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott H. Sherr, Jerry J. Shih, Shlomo Shinnar, Rani K. Singh, Joseph Sirven, Michael C. Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith Weisenberg, Peter Widdess‐Walsh, Melodie R. Winawer

    Published 2017
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  17. 17
    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre D. Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy L. Schneider, Georgie Hollingsworth, David Fitzpatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean Jones, Y. C. Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus Boelman, Guy A. Rouleau

    Published 2017
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  18. 18
    Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

    Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals by Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hákon Hákonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, 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

    Published 2019
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  19. 19
    Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

    Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals by Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Yiolanda Christou, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias Baumgartner, Randi von Wrede, 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, Stephan Lauxmann, Christian M. Boßelmann, Josua Kegele

    Published 2021
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  20. 20
    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

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    Published 2023
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