Article

Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome

2023-06-19

Abstract excerpt

<h4>Summary</h4> The canonical G406R gain of function mutation that reduces inactivation and increases Ca 2+ influx through the CACNA1C -encoded Ca V 1.2 voltage gated Ca 2+ channel underlies the multisystem disorder Timothy syndrome (TS), characterized by invariant Long QT syndrome and consequent life-threatening arrhythmias. Severe episodic hypoglycemia, which exacerbates arrhythmia risk, is among the myria...

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Literature Corpus work: d4df9d15-f509-59d4-9c6f-53de5ab01db7
DOI: 10.1101/2023.06.16.544987

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