Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Helena B. D. Magnusson"'
Autor:
Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B. D. Magnusson, Henriette R Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S Møller, Kristine Freude, Abinaya Chandrasekaran
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103193- (2023)
Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated cha
Externí odkaz:
https://doaj.org/article/650935d9c78d4a648531301dd5806137
Autor:
Kirstine Calloe, Helena B. D. Magnusson, Dorte Launholt Lildballe, Morten Krogh Christiansen, Henrik Kjærulf Jensen
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
In the past 20 years, genetic variants in SCN5A encoding the cardiac voltage-gated sodium channel Nav1.5 have been linked to a range of inherited cardiac arrhythmias: variants resulting in loss-of-function of Nav1.5 have been linked to sick sinus syn
Externí odkaz:
https://doaj.org/article/a3d25884c9f0402595254de4a76f5f7a