A cardiac sodium channel mutation associated with epinephrine‐induced marked QT‐prolongation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cardiovascular Electrophysiology"
DOI: 10.1111/jce.14572
Abstract: The hereditary long QT syndrome (LQTS) is an important cause of polymorphous ventricular tachycardia (torsades de pointes) and sudden cardiac death in otherwise young and healthy individuals. Clinically, this condition is caused by delayed ventricular… read more here.
Keywords: mutation associated; sodium channel; epinephrine induced; cardiac sodium ... See more keywords
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Brain"
DOI: 10.1186/s13041-019-0509-5
Abstract: Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using… read more here.
Keywords: pathogenic cav3; cav3 channel; child; generalized epilepsy ... See more keywords