Article

Disruptions in Primary Visual Cortex Physiology and Function in a Mouse Model of Timothy Syndrome

2024-12-21

Abstract excerpt

Timothy syndrome (TS) is a rare genetic disorder caused by mutations in the CACNA1C gene which encodes the L-type calcium channel α-1 CaV1.2 subunit. While it is expressed throughout the body the most serious symptoms are cardiac and neurological. Classical TS1 and TS2 mutations cause prolonged action potentials (APs) in cardiomyocytes and in induced neurons derived from pluripotent stem cells taken from TS patie...

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Literature Corpus work: 57c662aa-bc1a-590d-93f6-68b55059b372
DOI: 10.1101/2024.12.20.629743

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