Article

A cross-sectional study of the neuropsychiatric phenotype of <i>CACNA1C</i>-related disorder

2022-06-23

Abstract excerpt

CACNA1C encodes the voltage gated L-type calcium channel CaV1.2. A specific gain of function pathogenic variant in CACNA1C causes Timothy syndrome type 1 (TS1) with cardiac long QT syndrome, syndactyly, and neuropsychiatric symptoms. Recent case series highlighted a broader spectrum of CACNA1C -related disorder (CRD) that includes isolated cardiac disease, isolated neurologic deficits, and TS, but it is unknown ho...

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Literature Corpus work: 45a052f7-7936-57cf-957f-f05e94f4025e
DOI: 10.1101/2022.06.22.22276784

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