Associated Papers
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
35892314 (PubMed )
Supplement: cvac118_supplementary_data.docx
Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Déri S et al.
Cardiovascular Research, 2021
Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.
Ördög B et al.
Canadian Journal of Physiology and Pharmacology, 2015
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