Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Rohini Coorg"'
Autor:
Peter Müller, Danielle S. Takacs, Ulrike B. S. Hedrich, Rohini Coorg, Laura Masters, Kevin E. Glinton, Hongzheng Dai, Jon A. Cokley, James J. Riviello, Holger Lerche, Edward C. Cooper
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 4, Pp 656-663 (2023)
Abstract Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the vol
Externí odkaz:
https://doaj.org/article/3e01a3140cb74934be0643625cd200a3
Autor:
Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-11 (2019)
Abstract Background The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including au
Externí odkaz:
https://doaj.org/article/d29d30dba3904027806924ab1879cc4e
Autor:
Vijay M. Ravindra, Lucia Ruggieri, Nisha Gadgil, Angela P. Addison, Ilana Patino, David D. Gonda, Jason Chu, Laura Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James John Riviello, Elaine Seto, Krystal Elizabeth Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Rohini Coorg, Irfan Ali, Daniel Ikeda, Howard Weiner, Daniel J. Curry
Publikováno v:
Stereotactic and Functional Neurosurgery. :1-9
Introduction: In carefully selected patients with medically refractory epilepsy, disconnective hemispherotomy can result in significant seizure freedom; however, incomplete disconnection can result in ongoing seizures and poses a significant challeng
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b0a6fc8cc12d772237a94e6a165a354
https://doi.org/10.1159/000528452
https://doi.org/10.1159/000528452
Autor:
Rohini Coorg, Elaine S. Seto
Publikováno v:
Journal of Pediatric Epilepsy. 12:021-028
Stereoelectroencephalography (SEEG) has experienced an explosion in use due to a shifting understanding of epileptic networks and wider application of minimally invasive epilepsy surgery techniques. Both subdural electrode (SDE) monitoring and SEEG s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da57d4fad7a29a2caa2712b08be088f0
https://doi.org/10.1055/s-0042-1760105
https://doi.org/10.1055/s-0042-1760105
Autor:
Vijay M. Ravindra, Patrick J. Karas, Tyler T. Lazaro, Rohini Coorg, Al-Wala Awad, Ilana Patino, Emily E. McClernon, Dave Clarke, Laura Cairampoma Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James Riviello, Elaine S. Seto, Krystal Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Melissa LoPresti, Irfan Ali, Daniel J. Curry, Howard L. Weiner
Publikováno v:
Neurosurgery. 92:398-406
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09ec7d03e4a56347eb6f55ba11864873
https://doi.org/10.1227/neu.0000000000002214
https://doi.org/10.1227/neu.0000000000002214
Autor:
Cemal Karakas, Kimberly Houck, Maureen Handoko, Cristina Trandafir, Rohini Coorg, Zulfi Haneef, James R. Riviello, Howard L. Weiner, Daniel Curry, Irfan Ali
Publikováno v:
Pediatric Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b52bbd885319d5b8e31bc5bc7c94160
https://doi.org/10.1016/j.pediatrneurol.2023.05.008
https://doi.org/10.1016/j.pediatrneurol.2023.05.008
Autor:
Elaine S. Seto, Rohini Coorg
Publikováno v:
Neurologic Clinics. 39:723-742
Drug-resistant epilepsy warrants referral to an epilepsy surgery center for consideration of alternative treatments including epilepsy surgery. Advances in technology now allow for minimally invasive neurophysiologic monitoring and surgical intervent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7b1f03cfa33f7bbe91541eabde91a4a
https://doi.org/10.1016/j.ncl.2021.04.001
https://doi.org/10.1016/j.ncl.2021.04.001
Autor:
Konrad Platzer, Christina Fenger, Ilona Krey, Elena Gardella, Kaja Kristine Selmer, Johannes R. Lemke, Vivian Wan Yu Liao, Holger Lerche, Astrid Bertsche, Mary Chebib, Steffen Syrbe, Philip K. Ahring, Barbro Stadheim, Rohini Coorg, Teresa Santiago-Sim, Mahmoud Koko, Rikke S. Møller, Evan E. Eichler, Katrine M Johannesen, Hannah Davis, Tue Diemer, Charlotte Peinhardt
Publikováno v:
Brain
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain, vol. 145, no. 4, awab391, pp. 1299–1309 . https://doi.org/10.1093/brain/awab391
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain : a journal of neurology, vol. 145, no. 4, pp. 1299-1309 . https://doi.org/10.1093/brain/awab391
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain, vol. 145, no. 4, awab391, pp. 1299–1309 . https://doi.org/10.1093/brain/awab391
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain : a journal of neurology, vol. 145, no. 4, pp. 1299-1309 . https://doi.org/10.1093/brain/awab391
A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44048fe4ccc6734b6e4fa9d4ad47625
https://europepmc.org/articles/PMC9630717/
https://europepmc.org/articles/PMC9630717/
Publikováno v:
Sleep. 45:A369-A370
Introduction Burst suppression is a finding on electroencephalography (EEG) associated with a severe encephalopathy associated with coma, severe infantile-onset epilepsy syndromes, hypothermia, or may be medically induced by general anesthesia. It pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2612fe819b3306d0396a6957bd97ae52
https://doi.org/10.1093/sleep/zsac079.854
https://doi.org/10.1093/sleep/zsac079.854
Autor:
Elaine S, Seto, Rohini, Coorg
Publikováno v:
Neurologic clinics. 39(3)
Drug-resistant epilepsy warrants referral to an epilepsy surgery center for consideration of alternative treatments including epilepsy surgery. Advances in technology now allow for minimally invasive neurophysiologic monitoring and surgical intervent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::308b4584314fa1f857fc0e22d441e5ed
https://pubmed.ncbi.nlm.nih.gov/34215384
https://pubmed.ncbi.nlm.nih.gov/34215384