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Article

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

International journal of molecular sciences - 22 Jul 2022

Kummer Sebastian, Rinné Susanne, Seemann Gunnar, Bachmann Nadine, Timothy Katherine, Thornton Paul S, Pillekamp Frank, Mayatepek Ertan, Bergmann Carsten, Meissner Thomas, Decher Niels

Abstract excerpt

The voltage-dependent L-type calcium channel isoform CaV1.2 is critically involved in many physiological processes, e.g., in cardiac action potential formation, electromechanical coupling and regulation of insulin secretion by beta cells. Gain-of-function mutations in the calcium voltage-gated channel subunit alpha 1 C (CACNA1C) gene, encoding the CaV1.2 α1-subunit, cause Timothy syndrome (TS), a multisystemic...

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Identifiers

PMID: 35897673
DOI: 10.3390/ijms23158097
PMCID: PMC9332183

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Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.PMID 35897673Read ↗

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