Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Saul A Mullen"'
Autor:
Richard A Kanaan, Saul A Mullen, Wendyl D'Souza, Luis F Silva Castro-de-Araujo, Anushka Sharma, Alaric M Indranada
Publikováno v:
Seizure. 99:8-11
Functional seizures (FS) are heterogenous, with no agreed way to subdivide them. One FS subtype frequently observed during EEG is those whose seizures are provoked by hyperventilation. We wished to see whether this subtype might reflect a different s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0169fc4d18fbe9454061f06fdc3ad207
https://doi.org/10.1016/j.seizure.2022.04.012
https://doi.org/10.1016/j.seizure.2022.04.012
Autor:
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
Publikováno v:
Human mutationREFERENCES. 43(12)
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%-15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contrib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246cc95ca26153c3f65d149ecfbdc005
https://pubmed.ncbi.nlm.nih.gov/36030538
https://pubmed.ncbi.nlm.nih.gov/36030538
Autor:
James Allebone, Sarah J Wilson, Richard C J Bradlow, Jerome Maller, Terry O'Brien, Saul A Mullen, Mark Cook, Sophia J Adams, Simon Vogrin, David N Vaughan, Alan Connelly, Patrick Kwan, Samuel F Berkovic, Wendyl J D'Souza, Graeme Jackson, Dennis Velakoulis, Richard A Kanaan
Publikováno v:
Seizure. 101
To explore the cortical morphological associations of the psychoses of epilepsy.Psychosis of epilepsy (POE) has two main subtypes - postictal psychosis and interictal psychosis. We used automated surface-based analysis of magnetic resonance images to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10623c63bb6a9b9ab50a9f2a1bb5ef3d
https://pubmed.ncbi.nlm.nih.gov/36116283
https://pubmed.ncbi.nlm.nih.gov/36116283
Autor:
Orrin Devinsky, Samuel F. Berkovic, Catharine Freyer, Annapurna Poduri, Eric B. Geller, Amos D. Korczyn, Heidi E. Kirsch, Nathan B. Fountain, Rosemary Burgess, Jack M. Parent, Jocelyn F. Bautista, Susannah T. Bellows, Robert C. Knowlton, David Goldstein, Dennis J. Dlugos, Heather C Mefford, Anthony G Marson, Mike Smith, Sabrina Cristofaro, Erin L. Heinzen, Bassel Abou-Khalil, Michael P. Epstein, Douglas E. Crompton, Eileen P.G. Vining, Kevin McKenna, Steven Petrou, Anu Venkat, Eric H. Kossoff, Gretchen Von Allmen, Sheryl R. Haut, Ruben Kuzniecky, Juliann M. Paolicchi, Colin A Ellis, Rani K. Singh, Simon Glynn, Daniel H. Lowenstein, Liu Lin Thio, Lynette G. Sadleir, Rebecca Loeb, Norman Delanty, Terence J. O'Brien, Paul V. Motika, Peter Widdess-Walsh, Sara Kivity, Gregory D. Cascino, Slavé Petrovski, Ruth Ottman, Micheline Gravel, Andrew S. Allen, Jerry J. Shih, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Tracy A. Glauser, Judith L.Z. Weisenberg, Judith Bluvstein, Zaid Afawi, Phil Smith, Kevin F. Haas, Mark McCormack, Hadassa Goldberg-Stern, Sarah Paterson, Melodie R. Winawer, Mark I. Rees, Saul A. Mullen, Patrick Cossette, Rhys H. Thomas
Publikováno v:
Epilepsia
OBJECTIVE: Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data-driven approach may augment traditional electroclinical classification and shed ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be0a227c5e6f4209ee0d125e80b4851
https://doi.org/10.1111/epi.16354
https://doi.org/10.1111/epi.16354
Autor:
Dennis Velakoulis, Terry O'Brien, Patrick Kwan, Sophia J. Adams, Simon Vogrin, Jerome Joseph Maller, James Allebone, Sarah J. Wilson, Graeme D. Jackson, Saul A. Mullen, Richard A A Kanaan, David N. Vaughan, Samuel F. Berkovic, Mark J. Cook, Wendyl D'Souza, Alan Connelly
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 90:688-694
ObjectivePsychosis of epilepsy (POE) occurs more frequently in temporal lobe epilepsy, raising the question as to whether abnormalities of the hippocampus are aetiologically important. Despite decades of investigation, it is unclear whether hippocamp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3239c18881d2d994dacd4d85324682b
https://doi.org/10.1136/jnnp-2018-319396
https://doi.org/10.1136/jnnp-2018-319396
Autor:
Richard A A Kanaan, Simon Vogrin, Jerome Joseph Maller, Alan Connelly, Terrence J. O'Brien, Graeme D. Jackson, Samuel F. Berkovic, James Allebone, Sarah J. Wilson, Saul A. Mullen, David N. Vaughan, Mark J. Cook, Wendyl D'Souza, Dennis Velakoulis, Sophie J.L. Adams, Patrick Kwan
Publikováno v:
Epilepsybehavior : EB. 111
Psychosis of epilepsy (POE) can be a devastating condition, and its neurobiological basis remains unclear. In a previous study, we identified reduced posterior hippocampal volumes in patients with POE. The hippocampus can be further subdivided into a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec13e955bbb2fb353d22c2ae4a777796
https://pubmed.ncbi.nlm.nih.gov/32759068
https://pubmed.ncbi.nlm.nih.gov/32759068
Autor:
Sarah Paterson, Michael S. Hildebrand, Matthew Coleman, Heather C Mefford, Stuart Mossman, Samuel F. Berkovic, Chontelle King, Ingrid E. Scheffer, Saul A. Mullen, Melanie Bahlo, Guillem de Valles-Ibáñez, Lynette G. Sadleir, John Nguyen
Publikováno v:
Epilepsia. 61
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ea8075b84091b85d68889c6a1e85e49
https://doi.org/10.1111/epi.16475
https://doi.org/10.1111/epi.16475
Autor:
Sureshni I Jayasinghe, Simone Mandelstam, Natasha J Brown, Amy L Schneider, Michael S. Hildebrand, Zimeng Ye, Saul A. Mullen, Chloe A Stutterd
Publikováno v:
Molecular Case Studies. 7:a006127
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include ben
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25e52c387c5082e5cf55a07ed13f2395
https://doi.org/10.1101/mcs.a006127
https://doi.org/10.1101/mcs.a006127
Autor:
Steven Petrou, Leonid Churilov, Umesh Nair, Ingrid E. Scheffer, Melody Li, Paul A. Lightfoot, Annie Roten, Samuel F. Berkovic, Michael Ching, Saul A. Mullen, Patrick W. Carney
Publikováno v:
Neurology. 90:e67-e72
ObjectiveTo evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1.MethodsA single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e72f498c6f3320414e8a0298f3ef48f6
https://doi.org/10.1212/wnl.0000000000004769
https://doi.org/10.1212/wnl.0000000000004769
Autor:
IE Scheffer, Alexander Peeraer, Michael S. Hildebrand, Samuel F. Berkovic, Saul A. Mullen, Susannah T. Bellows, John A. Damiano
Publikováno v:
Epilepsy Research. 133:54-57
Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a10bdac991308cbbc637a4ee56a3f2
https://doi.org/10.1016/j.eplepsyres.2017.04.007
https://doi.org/10.1016/j.eplepsyres.2017.04.007