Hasil Pencarian - Ingrid E Scheffer

Perbaiki Hasil
  1. 1
    Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

    Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? oleh Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Christopher Semsarian, Ingrid E. Scheffer, Ingrid E. Scheffer, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid

    Diterbitkan 2020-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Does long‐term phenytoin have a place in Dravet syndrome?

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

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

    Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report oleh Chaseley E. Mckenzie, Chen-Jui Ho, Ian C. Forster, Ming S. Soh, A. Marie Phillips, A. Marie Phillips, Ying-Chao Chang, Ingrid E. Scheffer, Ingrid E. Scheffer, Ingrid E. Scheffer, Christopher A. Reid, Christopher A. Reid, Meng-Han Tsai, Meng-Han Tsai, Meng-Han Tsai

    Diterbitkan 2022-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    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 oleh Elaine C. Wirrell, Lieven Lagae, Ingrid E. Scheffer, J. Helen Cross, Nicola Specchio, Adam Strzelczyk

    Diterbitkan 2024-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

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

    Diterbitkan 2014-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    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. oleh Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

    Diterbitkan 2018-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    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 oleh John C. Mulley, Xenia Iona, Bree Hodgson, Sarah E. Heron, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

    Diterbitkan 2011-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex

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

    Diterbitkan 2022-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

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

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Seizures in Sotos syndrome: Phenotyping in 49 patients

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

    Diterbitkan 2021-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

    Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype oleh Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir

    Diterbitkan 2022-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

    Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype oleh Krysta J. Trevis, Natasha J. Brown, Cherie C. Green, Paul J. Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel P. K. Pua, Melanie Bahlo, Martin B. Delatycki, Ingrid E. Scheffer, Sarah J. Wilson

    Diterbitkan 2020-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    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 oleh 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

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    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 oleh 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

    Diterbitkan 2024-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants oleh 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

    Diterbitkan 2022-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    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. oleh 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

    Diterbitkan 2017-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    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 oleh 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

    Diterbitkan 2019-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    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 oleh 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

    Diterbitkan 2021-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration oleh 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

    Diterbitkan 2018-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    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 oleh 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

    Diterbitkan 2022-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: