Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Bronwyn E, Grinton"'
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:
Karen L. Oliver, Ingrid E. Scheffer, Mark F. Bennett, Bronwyn E. Grinton, Melanie Bahlo, Samuel F. Berkovic
Publikováno v:
Epilepsia. 64:1368-1375
Autor:
Bronwyn E. Grinton, Erandee Robertson, Liam G. Fearnley, Ingrid E. Scheffer, Anthony G. Marson, Terence J. O’Brien, W. Owen Pickrell, Mark I. Rees, Sanjay M. Sisodiya, David J. Balding, Mark F. Bennett, Melanie Bahlo, Samuel F. Berkovic, Karen L. Oliver
Publikováno v:
Am J Hum Genet
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndrome characterized by distinctive phenotypic heterogeneity within families. The SCN1B c.363C>G (p.Cys121Trp) variant has been identified in independent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88ca462d72deb4ffe681da56700c67b
https://cronfa.swan.ac.uk/Record/cronfa61445
https://cronfa.swan.ac.uk/Record/cronfa61445
Autor:
Samuel F. Berkovic, Jozef Gecz, Michael R. Sperling, Peter Widdess-Walsh, Rebekah V. Harris, Mark A. Corbett, Michael S. Hildebrand, Erin L. Heinzen, James T. Pelekanos, Sarah E. Heron, Melanie Bahlo, Katherine L. Helbig, Matthew Coleman, Brigid M. Regan, Ingrid E. Scheffer, Alison Gardner, Slavé Petrovski, Mark F. Bennett, Bronwyn E. Grinton, Sheryl R. Haut, Eric B. Geller
Publikováno v:
Neurology
ObjectiveTo identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the contribution of the identified gene to the pathogenicity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0ebe9c720a2bc5adbdacbf0b3352716
https://europepmc.org/articles/PMC8166436/
https://europepmc.org/articles/PMC8166436/
Autor:
Alexander Rosenfeld, D. L. Jones, Shannon R. Huskins, Katherine B. Howell, Michael Harvey, Simone Mandelstam, Jeremy L. Freeman, Ingrid E. Scheffer, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Jacinta M McMahon, Richard J. Leventer, Danae Andreopoulos-Malikotsinas, Yu Chi Liu, Michael S. Hildebrand, A. Simon Harvey, Mark F. Bennett, Mark T Mackay, John A. Damiano, Tyson L Ware
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)
Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)
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 between 2011 an
Autor:
Géza Berecki, Cara M. Skraban, Samuel F. Berkovic, Bronwyn E. Grinton, Katherine L. Helbig, Tyson L Ware, Eric D. Marsh, Steven Petrou
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 17
International Journal of Molecular Sciences, Vol 21, Iss 6333, p 6333 (2020)
Volume 21
Issue 17
International Journal of Molecular Sciences, Vol 21, Iss 6333, p 6333 (2020)
The CACNA1G gene encodes the low-voltage-activated Cav3.1 channel, which is expressed in various areas of the CNS, including the cerebellum. We studied two missense CACNA1G variants, p.L208P and p.L909F, and evaluated the relationships between the se
Autor:
Samuel F. Berkovic, Andrew Bleasel, Hadassa Goldberg-Stern, Bronwyn E. Grinton, Sara Kivity, Leanne M. Dibbens, Elizabeth K. Ruzzo, John A. Damiano, Lata Vadlamudi, Zaid Afawi, Georgie C. Glubb, Jodie P. Malone, Rosemary Burgess, Padraic Grattan-Smith, Yue-Hua Zhang, Danya F. Vears, Katherine L. Helbig, Amos D. Korczyn, Ingrid E. Scheffer, Susannah T. Bellows, Michael S. Hildebrand
Publikováno v:
Neurology. 89:1210-1219
Objective:Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum.Methods:We
Autor:
Shannon N. Huskins, Ingrid E. Scheffer, Samuel F. Berkovic, Bronwyn E. Grinton, Tyson L Ware, Cheryl Shoubridge, Matilda R. Jackson, Alison Thomas
Publikováno v:
American journal of medical genetics. Part A. 179(8)
Pathogenic variants in the X-chromosome Aristaless-related homeobox (ARX) gene contribute to intellectual disability, epilepsy, and associated comorbidities in affected males. Here, we report a novel splice variant in ARX in a family with three affec
Autor:
Amy L Schneider, Jeffrey Buchhalter, Sabrina D'Alfonso, Lynette G. Sadleir, John A. Damiano, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Eunice K Chan, Kenneth A. Myers, Luis Bello-Espinosa, Mark F. Bennett, Ingrid E. Scheffer, Gabriel Dabscheck, Michael S. Hildebrand
Publikováno v:
Epilepsy Research. 170:106537
Objective We investigated the possible significance of rare genetic variants to response to valproic acid (VPA) and ethosuximide (ETX) in patients with absence epilepsy. Our primary hypothesis was that rare CACNA1H variants are more frequent in ETX-n
Autor:
Kenneth A. Myers, Annie Roten, Michael Ching, Ingrid E. Scheffer, Colin A Ellis, Bronwyn E. Grinton, Margot J Davey, Paul A. Lightfoot
STUDY OBJECTIVES: Dravet syndrome is a severe developmental and epileptic encephalopathy, in which 75% of patients have sleep disturbance. Melatonin is often used for sleep problems in childhood; however, there is no quality evidence supporting its u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b105817480bf293b21b064c22e1f383
https://europepmc.org/articles/PMC6175806/
https://europepmc.org/articles/PMC6175806/