A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder
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DOI: 10.1101/2022.06.22.22276784
Abstract: 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… read more here.
Keywords: phenotype; cacna1c related; related disorder; neuropsychiatric symptoms ... See more keywords