Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marcia A. Blair"'
Autor:
Kevin R. Bersell, Tao Yang, Jonathan D. Mosley, Andrew M. Glazer, Andrew T. Hale, Dmytro O. Kryshtal, Kyungsoo Kim, Jeffrey D. Steimle, Jonathan D. Brown, Joe-Elie Salem, Courtney C. Campbell, Charles C. Hong, Quinn S. Wells, Amanda N. Johnson, Laura Short, Marcia A. Blair, Elijah R. Behr, Evmorfia Petropoulou, Yalda Jamshidi, Mark D. Benson, Michelle J. Keyes, Debby Ngo, Ramachandran S. Vasan, Qiong Yang, Robert E. Gerszten, Christian Shaffer, Shan Parikh, Quanhu Sheng, Prince J. Kannankeril, Ivan P. Moskowitz, John D. York, Thomas J. Wang, Bjorn C. Knollmann, Dan M. Roden
Publikováno v:
Circulation. 147:824-840
Background: Brugada syndrome (BrS) is an inherited arrhythmia syndrome caused by loss-of-function variants in the cardiac sodium channel gene SCN5A (sodium voltage-gated channel alpha subunit 5) in ≈20% of subjects. We identified a family with 4 in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcdd1ac34ae82ff8a9ad6eaf1e5d9d09
https://doi.org/10.1161/circulationaha.122.062193
https://doi.org/10.1161/circulationaha.122.062193
Publikováno v:
Epilepsia. 52(5)
Generalized epilepsies are clinically and genetically heterogeneous syndromes. Idiopathic generalized epilepsy (IGE), which has a strong genetic background, is not associated with any additional clinical features, such as mental retardation (MR). Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99c2541e15eeca2e191af736453cf73c
https://pubmed.ncbi.nlm.nih.gov/21480884
https://pubmed.ncbi.nlm.nih.gov/21480884