Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Erika Axeen"'
Autor:
Emily Bell, John M. Schreiber, Christos Sidiropoulos, Howard P. Goodkin, Amy Robichaux Viehoever, Erika Axeen
Publikováno v:
Pediatric Neurology. 121:28-32
Background We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders. Methods An
Autor:
Frank H. Duffy, Catherine Stamoulis, Katherine Dorfman, Jack Connolly, Himanshu Kaulas, Jonathan J. Halford, Jeffrey Bolton, Erika Axeen, S. Ted Treves, Phillip L. Pearl
Publikováno v:
IEEE Transactions on Biomedical Engineering. 66:1863-1871
More than one third of children with epilepsy have medically intractable seizures. Promising therapies, including targeted neurostimulation and surgery, depend on accurate localization of the epileptogenic zone. Ictal perfusion single-photon emission
Publikováno v:
Epilepsy Currents
There are an increasing number of clinical studies for COVID-19, with several large cohort studies documenting initial signs and symptoms. Realizing the need for current information, this summary provides a focused summary of pertinent clinical diagn
Autor:
Rebecca K. Siegert, Carrie Anne Barry, Kristen Park, Maria Roberta Cilio, Bekim Sadikovic, Ghayda M. Mirzaa, David A. Dyment, Ingo Helbig, Annapurna Poduri, Tristan T. Sands, Karl Martin Klein, Courtney Thaxton, Jacy L. Wagnon, Erin Rooney Riggs, Erika Axeen, Pasquale Striano, Tanya Bardakjian, Katherine L. Helbig, Heather C Mefford, Elizabeth Butler, Khalida Liaquat, Andrew R. Grant
Publikováno v:
Paediatrics Publications
Human mutation, Vol. 39, no.11, p. 1476-1484 (2018)
Hum Mutat
Human mutation, Vol. 39, no.11, p. 1476-1484 (2018)
Hum Mutat
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two i
Autor:
Heather E. Olson, Erika Axeen
Publikováno v:
Seminars in fetalneonatal medicine. 23(3)
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped i