Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.

Tadashi NakajimaReika Kawabata-IwakawaShuntaro TamuraHiroshi HasegawaTakashi KobariHideki ItohMinoru HorieMasahiko NishiyamaMasahiko KurabayashiYoshiaki Kaneko Hideki Ishii

Published in: PloS one (2022)

Delayed VDI, increased persistent currents, and increased window currents of R511Q-ICa cause nsLQT8. Our data provide novel insights into the structure-function relationships of Cav1.2 and the pathophysiological roles of the DⅠ-Ⅱ linker in phenotypic manifestations.

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