Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder

Abstract Mutations in CACNA1C, the gene encoding Cav1.2 voltage-gated calcium channels, are associated with a spectrum of disorders, including Timothy syndrome and other neurodevelopmental and cardiac conditions. In this study, we report a child with a de novo heterozygous missense variant (c.1973T ...

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Bibliographic Details

Published in:	Molecular Brain
Main Authors:	Robin N. Stringer, Xuechen Tang, Bohumila Jurkovicova-Tarabova, Mary Murphy, Klaus R. Liedl, Norbert Weiss
Format:	Article
Language:	English
Published:	BMC 2025-03-01
Subjects:	CACNA1C Cav1.2 Calcium channel L658P Channelopathies Electrophysiology
Online Access:	https://doi.org/10.1186/s13041-025-01195-w