Výsledky vyhledávání - Seo‐Kyung Chung

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  1. 1
    Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

    Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay Autor Rhys H. Thomas, Seo‐Kyung Chung, S. E. Wood, Thomas D. Cushion, Cheney Drew, Chrissy L. Hammond, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Mark I. Rees

    Vydáno 2013
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  2. 2
    The glycinergic system in human startle disease: a genetic screening approach

    The glycinergic system in human startle disease: a genetic screening approach Autor Jeffrey S. Davies, Seo‐Kyung Chung, Rhys H. Thomas, Angela K. Robinson, Carrie L. Hammond, Jonathan G.L. Mullins, Eloisa Carta, Brian R. Pearce, Kirsten Harvey, Victoria L. Harvey, Mark I. Rees, Mark I. Rees

    Vydáno 2010
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  3. 3
    De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

    De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy Autor Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz, Jonathan G.L. Mullins, Laurie E. Seltzer, Robert W. Marion, Emily Tuttle, Dalia Ghoneim, Susan L. Christian, Seo‐Kyung Chung, Mark I. Rees, William B. Dobyns

    Vydáno 2014
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  4. 4
    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Autor Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz

    Vydáno 2013
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  5. 5
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes Autor Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo‐Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty

    Vydáno 2015
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  6. 6
    Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

    Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease Autor Victoria M. James, Anna Bode, Seo‐Kyung Chung, Jennifer Gill, Maartje Nielsen, Frances M. Cowan, Mihailo Vujic, Rhys H. Thomas, Mark I. Rees, Kirsten Harvey, Angelo Keramidas, Maya Topf, Ieke B. Ginjaar, Joseph W. Lynch, Victoria L. Harvey

    Vydáno 2012
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  7. 7
    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy Autor Juliette Piard, George K. E. Umanah, Frederike L. Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I. Rees, Seo‐Kyung Chung, Henry Houlden, Alain Verloès, Ted M. Dawson, Valina L. Dawson, Lionel Van Maldergem, Kerstin Kutsche

    Vydáno 2017
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  8. 8
    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease Autor Mark I. Rees, Kirsten Harvey, Brian R. Pearce, Seo‐Kyung Chung, Ian Duguid, P K Thomas, Sarah Beatty, Gail E. Graham, Linlea Armstrong, Rita Shiang, Kim Abbott, Sameer M. Zuberi, John B.P. Stephenson, Michael J. Owen, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Trevor G. Smart, Stéphane Supplisson, Victoria L. Harvey

    Vydáno 2006
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  9. 9
    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia Autor Seo‐Kyung Chung, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Angela K. Robinson, Janina Hantke, Chrissy L. Hammond, Daniel F. Gilbert, Michael Freilinger, Monique M. Ryan, Michael C. Kruer, Amira Masri, Candan Gürses, C D Ferrie, Kirsten Harvey, Rita Shiang, John Christodoulou, Frédérick Andermann, E. Andermann, Rhys H. Thomas, Victoria L. Harvey, Joseph W. Lynch, Mark I. Rees

    Vydáno 2010
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  10. 10
    GLRB is the third major gene of effect in hyperekplexia

    GLRB is the third major gene of effect in hyperekplexia Autor Seo‐Kyung Chung, Anna Bode, Thomas D. Cushion, Rhys H. Thomas, Charlotte Hunt, S. E. Wood, William Owen Pickrell, Cheney Drew, Sumimasa Yamashita, Rita Shiang, Steffen Leiz, Ann-Carolyn Longhardt, Vera Raile, Bernhard Weschke, Ratna Dua Puri, I. C. Verma, Victoria L. Harvey, Didi D. Ratnasinghe, Michael Parker, Chris Rittey, Amira Masri, Lokesh Lingappa, Owain W. Howell, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Joseph W. Lynch, Mark I. Rees

    Vydáno 2012
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  11. 11
    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease Autor Eloisa Carta, Seo‐Kyung Chung, Victoria M. James, Angela K. Robinson, Jennifer Gill, Nathalie Rémy, Jean-François Vanbellinghen, Cheney Drew, S. Cagdas, Duncan Cameron, Frances M. Cowan, Mireria Del Toro, Gail E. Graham, Adnan Y. Manzur, Amira Masri, Serge Rivera, Emmanuel Scalais, Rita Shiang, Kate Sinclair, Catriona A. Stuart, Marina A.J. Tijssen, Grahame Wise, Sameer M. Zuberi, Kirsten Harvey, Brian R. Pearce, Maya Topf, Rhys H. Thomas, Stéphane Supplisson, Mark I. Rees, Victoria L. Harvey

    Vydáno 2012
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  12. 12
    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 Autor 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

    Vydáno 2015
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  13. 13
    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria Autor Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz

    Vydáno 2017
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  14. 14
    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study Autor 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

    Vydáno 2017
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  15. 15
    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Autor Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji, Zaid Afawi, Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, Grazia Annesi, Pauls Auce, Andreja Avberšek, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Carmen Barba, Karen Barboza, Fabrice Bartoloméi, Thomas Bast, Larry Baum, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Albert J. Becker, Felicitas Becker, Caitlin A. Bennett, Bianca Berghuis, Samuel F. Berkovic, Ahmad Beydoun, Claudia Bianchini, Francesca Bisulli, Ilan Blatt, Dheeraj Reddy Bobbili, Ingo Borggraefe, Christian M. Boßelmann, Vera Braatz, Jonathan P. Bradfield, Knut Brockmann, Lawrence C. Brody, Russell J. Buono, Robyn M. Busch, Hande Çağlayan, Ellen Campbell, Laura Canafoglia, Christina Canavati, Gregory D. Cascino, Barbara Castellotti, Claudia B. Catarino, Gianpiero L. Cavalleri, Felecia Cerrato, Francine Chassoux, Stacey S. Cherny, Ching‐Lung Cheung, Krishna Chinthapalli, I-Jun Chou, Seo‐Kyung Chung, Tracy Air, Peggy O. Clark, Andrew J. Cole, Alastair Compston, Antonietta Coppola, Mahgenn Cosico, Patrick Cossette, John Craig, Caroline Cusick, Mark J. Daly, Lea K. Davis, Gerrit‐Jan de Haan, Norman Delanty, Chantal Depondt, Philippe Derambure, Orrin Devinsky, Lidia Di Vito, Dennis Dlugos, Viola Doccini, Colin P. Doherty, Hany El‐Naggar, Christian E. Elger, Colin A. Ellis, Johan G. Eriksson, Annika Faucon, Yen‐Chen Anne Feng, Lisa Ferguson, Thomas N. Ferraro, Lorenzo Ferri, Martha Feucht, Mark P. Fitzgerald, Beata Fonferko‐Shadrach, Francesco Fortunato, Silvana Franceschetti, Andre Franke, Jacqueline A. French, Elena Freri, Monica Gagliardi, Antonio Gambardella, Eric B. Geller, Tania Giangregorio, Leif Gjerstad

    Vydáno 2023
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