Εμφανίζονται 1 - 20 Αποτελέσματα από 32 για την αναζήτηση 'E. Scheffer', χρόνος αναζήτησης: 0,07δλ Περιορισμός αποτελεσμάτων
  1. 1
    Does long‐term phenytoin have a place in Dravet syndrome?

    Does long‐term phenytoin have a place in Dravet syndrome? ανά George A. Zographos, Sophie J. Russ‐Hall, Ingrid E. Scheffer

    Έκδοση 2022-12-01
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  2. 2
    Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene

    Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodi... ανά D.A. Ovchinnikov, S. Jong, C. Cuddy, I.E. Scheffer, S. Maljevic, S. Petrou

    Έκδοση 2023-09-01
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  3. 3
    Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox–Gastaut syndrome in clinical practice

    Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox–Gastaut syndrome in clinical practice ανά Elaine C. Wirrell, Lieven Lagae, Ingrid E. Scheffer, J. Helen Cross, Nicola Specchio, Adam Strzelczyk

    Έκδοση 2024-10-01
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  4. 4
    Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

    Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. ανά Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo

    Έκδοση 2014-01-01
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  5. 5
    KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

    KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. ανά Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

    Έκδοση 2018-01-01
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  6. 6
    The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

    The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures ανά John C. Mulley, Xenia Iona, Bree Hodgson, Sarah E. Heron, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

    Έκδοση 2011-01-01
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  7. 7
    Systematic description of an interdisciplinary multimodal pain treatment programme for patients with chronic musculoskeletal pain, using the TIDieR checklist

    Systematic description of an interdisciplinary multimodal pain treatment programme for patients with chronic musculoskeletal pain, using the TIDieR checklist ανά L. Breugelmans, E. Scheffer, L. W. M. E. Beckers, R. F. A. Oosterwijk, G. Nijland, R. J. E. M. Smeets

    Έκδοση 2022-10-01
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  8. 8
    Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex

    Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex ανά Tamar Sapir, Aditya Kshirsagar, Anna Gorelik, Tsviya Olender, Ziv Porat, Ingrid E. Scheffer, David B. Goldstein, Orrin Devinsky, Orly Reiner

    Έκδοση 2022-07-01
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  9. 9
    Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

    Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy ανά Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz

    Έκδοση 2024-01-01
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  10. 10
    Seizures in Sotos syndrome: Phenotyping in 49 patients

    Seizures in Sotos syndrome: Phenotyping in 49 patients ανά Olivier Fortin, Christian Vincelette, Afsheen Q. Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E. Scheffer, Jun Lu, Kellie Davis, Kenneth A. Myers

    Έκδοση 2021-06-01
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  11. 11
    Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma

    Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma ανά Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic

    Έκδοση 2023-01-01
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  12. 12
    Applying the ILAE diagnostic criteria for Lennox‐Gastaut syndrome in the real‐world setting: A multicenter retrospective cohort study

    Applying the ILAE diagnostic criteria for Lennox‐Gastaut syndrome in the real‐world setting: A multicenter retrospective cohort study ανά Russell Nightscales, Zhibin Chen, Sarah Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel F. Berkovic, John‐Paul Nicolo, Terence J. O'Brien, Piero Perucca, Ingrid E. Scheffer, Patrick Kwan

    Έκδοση 2024-04-01
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  13. 13
    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants ανά Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

    Έκδοση 2022-05-01
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  14. 14
    A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

    A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. ανά Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein

    Έκδοση 2017-11-01
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  15. 15
    Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

    Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA ανά Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer

    Έκδοση 2019-07-01
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  16. 16
    Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

    Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP ανά Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid

    Έκδοση 2021-07-01
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  17. 17
    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration ανά Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

    Έκδοση 2018-12-01
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  18. 18
    Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

    Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery ανά Karen L. Oliver, Colin A. Ellis, Ingrid E. Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir, Erin L. Heinzen, Heather C. Mefford, Andrew J. Bass, Sarah W. Curtis, Rebekah V. Harris, David C. Whiteman, Ingo Helbig, Ruth Ottman, Michael P. Epstein, Melanie Bahlo, Samuel F. Berkovic

    Έκδοση 2022-07-01
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  19. 19
    The role of common genetic variation in presumed monogenic epilepsies

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

    Έκδοση 2022-07-01
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  20. 20
    Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

    Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. ανά Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk

    Έκδοση 2015-03-01
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