Zobrazeno 1 - 10
of 335
pro vyhledávání: '"Richard J Leventer"'
Autor:
James Spyrou, Khaing Phyu Aung, Hannah Vanyai, Richard J. Leventer, Snezana Maljevic, Paul J. Lockhart, Katherine B. Howell, Christopher A. Reid
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106657- (2024)
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an important cause of drug-resistant epilepsy. A significant subset of individuals diagnosed with MOGHE display somatic mosaicism for loss-of-function
Externí odkaz:
https://doaj.org/article/e6d2854668604429b1d8388573491489
Autor:
Wei Shern Lee, Emma Macdonald‐Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 205-210 (2023)
Abstract Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery‐resistant focal epilepsy due to FCD type II who developed progressive enlargement and
Externí odkaz:
https://doaj.org/article/43a28f90c6074072b7d54c233d653d34
Autor:
Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
Abstract Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog
Externí odkaz:
https://doaj.org/article/3037ab4905b242568f51ef06d52f0962
Autor:
Carolyn Bursle, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
Abstract We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound
Externí odkaz:
https://doaj.org/article/409271ae6f594e76bb062158b9a17b88
Autor:
Vanessa Siffredi, Younes Farouj, Anjali Tarun, Vicki Anderson, Amanda G. Wood, Alissandra McIlroy, Richard J. Leventer, Megan M. Spencer-Smith, Dimitri Van De Ville
Publikováno v:
NeuroImage, Vol 243, Iss , Pp 118471- (2021)
In the human brain, the corpus callosum is the major white-matter commissural tract enabling the transmission of sensory-motor, and higher level cognitive information between homotopic regions of the two cerebral hemispheres. Despite developmental ab
Externí odkaz:
https://doaj.org/article/4ed11abaccda4c3e9a1b24906bdac15b
Autor:
Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic
Publikováno v:
Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)
Abstract We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephalopathies (DEEs) in a population isolate, with an intensive multistage approach. Infants born in Tasmania betwee
Externí odkaz:
https://doaj.org/article/9380e8af0ae643929c694264aa7cbbd3
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
Abstract Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is
Externí odkaz:
https://doaj.org/article/9a324a5ce8934bbc85b57f18d8559bdd
Autor:
Emilyn Soon, Vanessa Siffredi, Peter J. Anderson, Vicki A. Anderson, Alissandra McIlroy, Richard J. Leventer, Amanda G. Wood, Megan M. Spencer-Smith
Publikováno v:
Journal of the International Neuropsychological Society. :1-9
Objectives: The developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation associated with risk for a range of neuropsychological difficulties. Inhibitory control outcomes, including interference control and res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd898a04242d51fd212a79b48b676219
https://doi.org/10.1017/s1355617723000218
https://doi.org/10.1017/s1355617723000218
Autor:
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Publikováno v:
Epilepsia. 64:1351-1367
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::778162645550a6966977db2b3b54f266
https://doi.org/10.1111/epi.17542
https://doi.org/10.1111/epi.17542
Autor:
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John Pearson, Nicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael CJ. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North
Publikováno v:
The American Journal of Human Genetics. 110:419-426
Refereed/Peer-reviewed Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffd2928ca8e53c9959c805e132af1ae
https://doi.org/10.1016/j.ajhg.2023.01.018
https://doi.org/10.1016/j.ajhg.2023.01.018