Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Anuranjita Nayak"'
Autor:
Franciska J. Gudenkauf, Mahshid S. Azamian, Jill V. Hunter, Anuranjita Nayak, Seema R. Lalani
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background CACNA1A variants have been described in several disorders that encompass a wide range of neurologic phenotypes, including hemiplegic migraine, ataxia, cognitive delay, and epilepsy. To date, ischemic stroke caused by a CACNA1A var
Externí odkaz:
https://doaj.org/article/30cfd1b400bb457cbc0c650bd0a60d8b
Autor:
Raquel Farias-Moeller, Ravindra Arya, Katrina Peariso, Joshua L. Goldstein, Eric T. Payne, Yi-Chen Lai, Bo Zhang, Mohamad A. Mikati, Latania Reece, Tobias Loddenkemper, Angus Wilfong, Korwyn Williams, Brian Appavu, Robert C. Tasker, Juan Piantino, Marina Gaínza-Lein, William D. Gaillard, Tiffani L McDonough, James J. Riviello, Cristina Barcia Aguilar, Kush Kapur, Justice Clark, Howard P. Goodkin, Tristan T. Sands, Theodore Sheehan, Kevin E. Chapman, Jessica L. Carpenter, Edward J. Novotny, Robert J. Kahoud, James Nicholas Brenton, Iván Sánchez Fernández, Dmitry Tchapyjnikov, Kumar Sannagowdara, Anne E. Anderson, Marta Amengual-Gual, Mark S. Wainwright, Tracy A. Glauser, Lindsey A. Morgan, Anuranjita Nayak, Adam P. Ostendorf, Linda Huh, Alejandra Vasquez
Publikováno v:
Epilepsia. 62:2190-2204
Objective This study was undertaken to describe long-term clinical and developmental outcomes in pediatric refractory status epilepticus (RSE) and identify factors associated with new neurological deficits after RSE. Methods We performed retrospectiv
Autor:
Nishitha R. Pillai, Brett H. Graham, Noura S. AlDhaheri, Sarah H. Elsea, Anuranjita Nayak, Fernando Scaglia, Rajarshi Ghosh, Jaehyung Lim, Haley Streff, Neil A. Hanchard
Publikováno v:
American Journal of Medical Genetics Part A. 179:2138-2143
Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with short stature, poor weight gain, dysmorphic features, and features of Fanconi anemia. COX4I1
Autor:
Robert C. Tasker, James J. Riviello, William D. Gaillard, Eric T. Payne, Kevin E. Chapman, Justice Clark, J. Nicholas Brenton, Tiffani L McDonough, Mark S. Wainwright, Dmitry Tchapyjnikov, Anne E. Anderson, Alexis A. Topjian, Marina Gaínza-Lein, Nicholas S. Abend, Tobias Loddenkemper, Jessica L. Carpenter, Joshua L. Goldstein, Yi-Chen Lai, Howard P. Goodkin, Mohamad A. Mikati, Iván Sánchez Fernández, Tracy A. Glauser, Anuranjita Nayak, Alejandra Vasquez
Publikováno v:
Pediatric neurology. 86
Objective We aimed to evaluate and compare the status epilepticus treatment pathways used by pediatric status epilepticus research group (pSERG) hospitals in the United States and the American Epilepsy Society (AES) status epilepticus guideline. Meth
Publikováno v:
Current Problems in Pediatric and Adolescent Health Care. 45:3-17
Epilepsy is a relatively common neurologic disorder in children that has important implications for development, parents, and society. Making the correct diagnosis starts with an accurate and complete history that consequently leads to a directed dia
Autor:
Claudine Sculier, Marina Gaínza-Lein, Nicolas Gaspard, Iván Sánchez Fernández, Nicholas S. Abend, Ann Anderson, Ravindra Arya, J. Nicholas Brenton, Jessica L. Carpenter, Kevin E. Chapman, William Gaillard, Tracy A. Glauser, Joshua L. Goldstein, Howard P. Goodkin, Mohamad A. Mikati, Anuranjita Nayak, Katrina Peariso, James J. Riviello, Robert C. Tasker, Dmitry Tchapyjnikov, Alexis A. Topjian, Mark S. Wainwright, Angus Wilfong, Korwyn Williams, Tobias Loddenkemper
Publikováno v:
European Journal of Paediatric Neurology. 21:e158-e159
Publikováno v:
Neurology. 80:e130-e130
A 2-year-old girl presented with developmental delay. Examination revealed height, weight, and head circumference above the 95th percentile, appendicular hypotonia, right hemibody hypopigmented lesions following the lines of Blaschko, and right hypop