Article

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement

2025-11-17

Abstract excerpt

<title>Abstract</title> Timothy Syndrome is a multisystemic genetic disorder, classically characterised by prolonged QT interval and subsequent cardiac arrhythmias, neurodevelopmental disorders including developmental delay and autism, and syndactyly or hip dysplasia. It is caused by variants in the <italic>CACNA1C</italic> gene, which encodes the widely expressed Ca v 1.2 voltage-gated calciu...

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Literature Corpus work: ed803d3c-bdf2-5b75-bce2-b140fbe3fda8
DOI: 10.21203/rs.3.rs-8058536/v1

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