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Article

Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels

1 Jan 2018

Abstract excerpt

Recently, we and others identified somatic and germline de novo gain-of-function mutations in CACNA1D, the gene encoding the α1-subunit of voltage-gated Cav1.3 Ca2+-channels. While somatic mutations identified in aldosterone producing adenomas (APAs) underlie treatment-resistant hypertension, germline CACNA1D mutations are associated with a neurodevelopmental disorder characterized by a wide symptomatic spectrum,...

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Identifiers

PMID: 30465465
DOI: 10.1080/19336950.2018.1546518

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Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channelsPMID 30465465Read ↗

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