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Article

De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism.

Pflugers Archiv : European journal of physiology - 1 Jul 2020

Ortner Nadine J, Kaserer Teresa, Copeland J Nathan, Striessnig Jörg

Abstract excerpt

The identification of rare disease-causing variants in humans by large-scale next-generation sequencing (NGS) studies has also provided us with new insights into the pathophysiological role of de novo missense variants in the CACNA1D gene that encodes the pore-forming α1-subunit of voltage-gated Cav1.3 L-type Ca2+ channels. These CACNA1D variants have been identified somatically in aldosterone-producing adenomas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32583268
DOI: 10.1007/s00424-020-02418-w
PMCID: PMC7351864

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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