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

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

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 chann...

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Autoren: Kummer, Sebastian, Rinné, Susanne, Seemann, Gunnar, Bachmann, Nadine, Timothy Katherine, Thornton, Paul S., Pillekamp, Frank, Mayatepek, Ertan, Bergmann, Carsten, Meissner, Thomas, Decher, Niels
Format: Artikel
Jezik:angleščina
Izdano: Philipps-Universität Marburg 2023
Teme:
calcium channel
CACNA1C
Medizin
hyperinsulinism
Medical sciences Medicine
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