Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Scott T. Demarest"'
Autor:
Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Timothy A. Benke, Annapurna Poduri
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is pr
Externí odkaz:
https://doaj.org/article/b2a404d8a1fc4c57b3365dbe6a876c7d
Autor:
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, Maciej Gasior, Orrin Devinsky, Elena Belousova, Oleg Belyaev, Bruria Ben-Zeev, Andreas Brunklaus, Michael A. Ciliberto, Francesca Darra, Ronald Davis, Valentina De Giorgis, Olga Doronina, Michael Fahey, Renzo Guerrini, Peter Heydemann, Olga Khaletskaya, Pawel Lisewski, Eric D. Marsh, Ahsan N. Moosa, Scott Perry, Sunny Philip, Rajsekar R. Rajaraman, Ben Renfroe, Russell P. Saneto, Ingrid E. Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T. Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C. Wirrell, Muhammad Zafar, Marta Zolnowska
Publikováno v:
The Lancet Neurology. 21:417-427
CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and epileptic encephalopathy characterised by severe global developmental impairment and seizures that can begin in the first few months after birth and are often treatment refractory
Publikováno v:
Am J Med Genet A
CDKL5 deficiency disorder (CDD) is an epileptic encephalopathy associated with medically refractory epilepsy. We sought to determine whether prolonged corrected QT interval (QTc) or other cardiac conduction abnormalities were seen in CDD in a clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2a5b6a0190bf7e2126a6be818c1411
https://europepmc.org/articles/PMC9886132/
https://europepmc.org/articles/PMC9886132/
Autor:
Lindsay C. Swanson, Jeffrey L. Neul, Elia Pestana-Knight, Scott T. Demarest, Annapurna Poduri, Heather E. Olson, Alan K. Percy, Anne Marie M. Denny, Ahsan N.V. Moosa, Caitlin A. Greene, Cary Fu, Carolyn I. Daniels, Judith L.Z. Weisenberg, Bernhard Suter, Eric D. Marsh, Andrea Fidell, Xiaoming Zhang, Tim A. Benke, Isabel Haviland
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Background CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is primarily s