Mutation-Specific Differences in Kv7.1 (

Autor:	Peter M, Kekenes-Huskey, Don E, Burgess, Bin, Sun, Daniel C, Bartos, Ezekiel R, Rozmus, Corey L, Anderson, Craig T, January, Lee L, Eckhardt, Brian P, Delisle
Rok vydání:	2022
Předmět:	ERG1 Potassium Channel Electrocardiography Phenotype Romano-Ward Syndrome KCNQ1 Potassium Channel Mutation Humans
Zdroj:	International journal of molecular sciences. 23(13)
ISSN:	1422-0067
Popis:	The electrocardiogram (ECG) empowered clinician scientists to measure the electrical activity of the heart noninvasively to identify arrhythmias and heart disease. Shortly after the standardization of the 12-lead ECG for the diagnosis of heart disease, several families with autosomal recessive (Jervell and Lange-Nielsen Syndrome) and dominant (Romano-Ward Syndrome) forms of long QT syndrome (LQTS) were identified. An abnormally long heart rate-corrected QT-interval was established as a biomarker for the risk of sudden cardiac death. Since then, the International LQTS Registry was established; a phenotypic scoring system to identify LQTS patients was developed; the major genes that associate with typical forms of LQTS were identified; and guidelines for the successful management of patients advanced. In this review, we discuss the molecular and cellular mechanisms for LQTS associated with missense variants in
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::0d404148fdbf68b069c756a0da5b0d96 https://pubmed.ncbi.nlm.nih.gov/35806392 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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