Article
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Cardiovascular research - 2 May 2023
Moreno-Manuel Ana Isabel, Gutiérrez Lilian K, Vera-Pedrosa María Linarejos, Cruz Francisco Miguel, Bermúdez-Jiménez Francisco José, Martínez-Carrascoso Isabel, Sánchez-Pérez Patricia, Macías Álvaro, Jalife José
Abstract excerpt
Andersen-Tawil syndrome (ATS) is a rare inheritable disease associated with loss-of-function mutations in KCNJ2, the gene coding the strong inward rectifier potassium channel Kir2.1, which forms an essential membrane protein controlling cardiac excitability. ATS is usually marked by a triad of periodic paralysis, life-threatening cardiac arrhythmias and dysmorphic features, but its expression is variable and not...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
