Výsledky vyhledávání - Amy McTague

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  1. 1
    Epilepsy and developmental disorders: Next generation sequencing in the clinic

    Epilepsy and developmental disorders: Next generation sequencing in the clinic Autor Joseph D. Symonds, Amy McTague

    Vydáno 2019
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  2. 2
    Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children

    Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children Autor Amy McTague, Timothy Martland, Richard Appleton

    Vydáno 2018
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  3. 3
    Intravenous levetiracetam in acute repetitive seizures and status epilepticus in children: Experience from a children's hospital

    Intravenous levetiracetam in acute repetitive seizures and status epilepticus in children: Experience from a children's hospital Autor Amy McTague, Rachel Kneen, Ram Kumar, Stefan Spinty, R E Appleton

    Vydáno 2012
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  4. 4
    Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies

    Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies Autor Amy McTague, Giada Rossignoli, Arianna Ferrini, Serena Barral, Manju A. Kurian

    Vydáno 2021
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  5. 5
    The expanding spectrum of movement disorders in genetic epilepsies

    The expanding spectrum of movement disorders in genetic epilepsies Autor Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy McTague, Manju A. Kurian

    Vydáno 2019
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  6. 6
    <i>GABRB3</i> mutations: a new and emerging cause of early infantile epileptic encephalopathy

    <i>GABRB3</i> mutations: a new and emerging cause of early infantile epileptic encephalopathy Autor Apostolos Papandreou, Amy McTague, Natalie Trump, Gautam Ambegaonkar, Adeline Ngoh, Esther Meyer, Richard H. Scott, Manju A. Kurian

    Vydáno 2015
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  7. 7
    Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis Autor Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, C. R. Boustred, Jane A. Hurst, Lucy Jenkins, Manju A. Kurian, Richard H. Scott

    Vydáno 2016
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  8. 8
    Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes

    Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes Autor Maria H. Eriksson, Kirstie Whitaker, John Booth, Rory J. Piper, Ajai Chari, Patricia Martin Sanfilippo, Ana Perez Caballero, Lara Menzies, Amy McTague, Sophie Adler, Konrad Wagstyl, Martin Tisdall, J. Helen Cross, Torsten Baldeweg

    Vydáno 2023
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  9. 9
    The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

    The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures Autor Rosemary Burgess, Shuyu Wang, Amy McTague, Katja Boysen, Xiaoling Yang, Qi Zeng, Kenneth A. Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G. Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yuehua Zhang, Heather C. Mefford, Manju A. Kurian, Annapurna Poduri, Ingrid E. Scheffer

    Vydáno 2019
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  10. 10
    Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?

    Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data? Autor Maria H. Eriksson, Mathilde Ripart, Rory J. Piper, Friederike Moeller, Krishna B. Das, Christin Eltze, Gerald Cooray, John Booth, Kirstie Whitaker, Ajai Chari, Patricia Martin Sanfilippo, Ana Perez Caballero, Lara Menzies, Amy McTague, Martin Tisdall, J. Helen Cross, Torsten Baldeweg, Sophie Adler, Konrad Wagstyl

    Vydáno 2023
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  11. 11
    Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?

    Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline? Autor Maria H. Eriksson, Freya Prentice, Rory J. Piper, Konrad Wagstyl, Sophie Adler, Ajai Chari, John Booth, Friederike Moeller, Krishna B. Das, Christin Eltze, Gerald Cooray, Ana Perez Caballero, Lara Menzies, Amy McTague, Sara Shavel‐Jessop, Martin Tisdall, J. Helen Cross, Patricia Martin Sanfilippo, Torsten Baldeweg

    Vydáno 2024
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  12. 12
    <i>GNAO1</i> encephalopathy

    <i>GNAO1</i> encephalopathy Autor Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren Carss, F. Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C. Dale, Shekeeb S. Mohammad, Ubaid Hameed Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A. Kurian, Renzo Guerrini

    Vydáno 2017
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  13. 13
    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum Autor Amy McTague, Richard Appleton, Shivaram Avula, J. Helen Cross, Mary D. King, Thomas S. Jacques, Sanjay Bhate, Anthony Cronin, A. Curran, Archana Desurkar, Michael A. Farrell, Elaine Hughes, Rosalind J Jefferson, Karine Lascelles, John H. Livingston, Esther Meyer, Ailsa McLellan, Annapurna Poduri, Ingrid E. Scheffer, Stefan Spinty, Manju A. Kurian, Rachel Kneen

    Vydáno 2013
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  14. 14
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations Autor Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    Vydáno 2016
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  15. 15
    Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

    Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy Autor Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H. Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E. Scheffer, W Kling Chong, J. Helen Cross, Maya Topf, Steven Petrou, Manju A. Kurian

    Vydáno 2017
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  16. 16
    <i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy

    <i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy Autor Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco M. Lasorsa, Princess C. Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Hill, Kutay Deniz Atabay, Brenda J. Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M. Kabiraj, Sanjeev V. Kothare, Tommy Stödberg, Amy McTague, Manju A. Kurian, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh

    Vydáno 2013
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  17. 17
    Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

    Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures Autor Tommy Stödberg, Amy McTague, Arnaud Ruiz, Hiromi Hirata, Juan Zhen, Philip Long, Irene Farabella, Esther Meyer, Atsuo Kawahara, Grace Vassallo, Stavros Stivaros, Magnus Bjursell, Henrik Stranneheim, Stephanie Tigerschiöld, Bengt Persson, I. Hussain Bangash, Krishna B. Das, Deborah Hughes, Nicole Lesko, Joakim Lundeberg, Rod C. Scott, Annapurna Poduri, Ingrid E. Scheffer, Holly Smith, Paul Gissen, Stéphanie Schorge, Maarten E. A. Reith, Maya Topf, Dimitri M. Kullmann, Victoria L. Harvey, Anna Wedell, Manju A. Kurian

    Vydáno 2015
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  18. 18
    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications Autor Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle

    Vydáno 2022
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  19. 19
    Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

    Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort stu... Autor Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo, Sarah Buts, Natalie Chandler, Joanna Cobb, Meredith Curtis, Edward J. Higginbotham, Jonathon Holland, Tayyaba Khan, Julia Koh, Nicole Si Yan Liang, Lyndsey McRae, Sarah E Nesbitt, Brandon T. Oby, Ben Paternoster, Alistair Patton, Graham Rose, Elizabeth Scotchman, Rozalia Valentine, Kimberly Wiltrout, Robin Z. Hayeems, Puneet Jain, Sebastian Lunke, Christian R. Marshall, Shira Rockowitz, Neil J. Sebire, Zornitza Stark, Susan M. White, Lyn S. Chitty, J. Helen Cross, Ingrid E. Scheffer, Vann Chau, Gregory Costain, Annapurna Poduri, Katherine B. Howell, Amy McTague

    Vydáno 2023
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  20. 20
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Autor Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    Vydáno 2020
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