檢索結果 - Lynette G. Sadleir

Refine Results
  1. 1
    Febrile seizures

    Febrile seizures 由 Lynette G. Sadleir, Ingrid E. Scheffer

    出版 2007
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  2. 2
    Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children

    Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children 由 Gemma Poke, James Stanley, Ingrid E. Scheffer, Lynette G. Sadleir

    出版 2022
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

    EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state 由 Lynette G. Sadleir, Ingrid E. Scheffer, Sherry Smith, Bendix Carstensen, K Farrell, Mary Connolly

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

    A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity 由 Kristy L. Kolc, Lynette G. Sadleir, Ingrid E. Scheffer, Atma M. Ivancevic, Rachel Roberts, Duyen Pham, Jozef Gécz

    出版 2018
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  5. 5
    Clinical genetic study of the epilepsy‐aphasia spectrum

    Clinical genetic study of the epilepsy‐aphasia spectrum 由 Meng‐Han Tsai, Danya F. Vears, Samantha J. Turner, Robert L. Smith, Samuel F. Berkovic, Lynette G. Sadleir, Ingrid E. Scheffer

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Heart rate variability in epilepsy: A potential biomarker of <scp>sudden unexpected death in epilepsy</scp> risk

    Heart rate variability in epilepsy: A potential biomarker of <scp>sudden unexpected death in epilepsy</scp> risk 由 Kenneth A. Myers, Luis Bello‐Espinosa, Joseph D. Symonds, Sameer M. Zuberi, Robin Clegg, Lynette G. Sadleir, Jeffrey Buchhalter, Ingrid E. Scheffer

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

    Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes 由 Danya F. Vears, Meng‐Han Tsai, Lynette G. Sadleir, Bronwyn E. Grinton, Leasha Lillywhite, Patrick W. Carney, A. Simon Harvey, Samuel F. Berkovic, Ingrid E. Scheffer

    出版 2012
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

    Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency 由 Todor Arsov, Saul A. Mullen, John A. Damiano, Kate Lawrence, Linda Huh, Melinda Nolan, Helen Young, Anaïs Thouin, Hans‐Henrik M. Dahl, Samuel F. Berkovic, Douglas E. Crompton, Lynette G. Sadleir, Ingrid E. Scheffer

    出版 2012
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures

    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures 由 Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg‐Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G. Sadleir, Samuel F. Berkovic, Leanne M. Dibbens

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Parental Mosaicism in “De Novo” Epileptic Encephalopathies

    Parental Mosaicism in “De Novo” Epileptic Encephalopathies 由 Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

    出版 2018
    獲取全文
    Carta
    加到收藏夾
    Saved in:
  11. 11
    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 由 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

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Current practice in diagnostic genetic testing of the epilepsies

    Current practice in diagnostic genetic testing of the epilepsies 由 Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel H. Lowenstein, Rikke S. Møller, Annapurna Poduri, Lynette G. Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne G. Weber, Johannes R. Lemke

    出版 2022
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

    The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures 由 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

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Rare copy number variants are an important cause of epileptic encephalopathies

    Rare copy number variants are an important cause of epileptic encephalopathies 由 Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg‐Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben‐Zeev, Tally Lerman‐Sagie, Mark T. Mackay, Jeremy L. Freeman, Eva Andermann, James T. Pelakanos, Ian Andrews, Geoffrey Wallace, Evan E. Eichler, Samuel F. Berkovic, Ingrid E. Scheffer

    出版 2011
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy 由 Michael S. Hildebrand, Nicole G. Griffin, John A. Damiano, Elisa J. Cops, Rosemary Burgess, Ezgi Öztürk, Nigel C. Jones, Richard J. Leventer, Jeremy L. Freeman, A. Simon Harvey, Lynette G. Sadleir, Ingrid E. Scheffer, Heather J. Major, Benjamin W. Darbro, Andrew S. Allen, David B. Goldstein, John Kerrigan, Samuel F. Berkovic, Erin L. Heinzen

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency 由 Chuan Tan, Chloé Shard, Enzo Ranieri, Kim Hynes, Duyen Pham, Damien A. Leach, Grant Buchanan, Mark Corbett, Cheryl Shoubridge, Raman Kumar, Evelyn Douglas, Lam Son Nguyen, Jacinta M. McMahon, Lynette G. Sadleir, Nicola Specchio, Carla Marini, Renzo Guerrini, Rikke S. Møller, Christel Depienne, Eric Haan, Paul Q. Thomas, Samuel F. Berkovic, Ingrid E. Scheffer, Jozef Gécz

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders 由 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

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    The spectrum of SCN1A-related infantile epileptic encephalopathies

    The spectrum of SCN1A-related infantile epileptic encephalopathies 由 Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne M. Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette G. Sadleir, Eva Andermann, Deepak Gill, K Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frédérick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G. Jones, William Seltzer, Alison Gardner, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, Ingrid E. Scheffer

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome 由 Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree Hodgson, Xenia Iona, Lynette G. Sadleir, James T. Pelekanos, Eric Herlenius, Hadassa Goldberg‐Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison Gardner, Mark Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy 由 Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: