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Article

Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice.

The Journal of clinical investigation - 1 Jun 2008

Lehnart Stephan E, Mongillo Marco, Bellinger Andrew, Lindegger Nicolas, Chen Bi-Xing, Hsueh William, Reiken Steven, Wronska Anetta, Drew Liam J, Ward Chris W, Lederer W J, Kass Robert S, Morley Gregory, Marks Andrew R

Abstract excerpt

The Ca2+ release channel ryanodine receptor 2 (RyR2) is required for excitation-contraction coupling in the heart and is also present in the brain. Mutations in RyR2 have been linked to exercise-induced sudden cardiac death (catecholaminergic polymorphic ventricular tachycardia [CPVT]). CPVT-associated RyR2 mutations result in "leaky" RyR2 channels due to the decreased binding of the calstabin2 (FKBP12.6)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18483626
DOI: 10.1172/JCI35346
PMCID: PMC2381750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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