Population
91 patients with congenital or childhood atrioventricular block; HEK293 cells for heterologous expression
Design
Preclinical
Authors
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No immediate clinical implications for childhood AV block; leaves open pharmacological chaperone research for TRPM4 variants.
TRPM4 loss-of-function variants in childhood atrioventricular block are likely caused by misfolding-dependent altered trafficking, which can be partially rescued by lower temperatures, suggesting a potential role for pharmacological chaperones.
Syam et al. (2016) studied this question.
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