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Article

Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities.

JCI insight - 23 Oct 2023

Stölting Gabriel, Dinh Hoang An, Volkert Marina, Hellmig Nicole, Schewe Julia, Hennicke Luise, Seidel Eric, Oberacher Herbert, Zhang Junhui, Lifton Richard P, Urban Iris, Long Melissa, Rivalan Marion, Nottoli Timothy, Scholl Ute I

Abstract excerpt

Somatic gain-of-function mutations in the L-type calcium channel CaV1.3 (CACNA1D gene) cause adrenal aldosterone-producing adenomas and micronodules. De novo germline mutations are found in a syndrome of primary aldosteronism, seizures, and neurologic abnormalities (PASNA) as well as in autism spectrum disorder. Using CRISPR/Cas9, we here generated mice with a Cacna1d gain-of-function mutation found in both...

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Identifiers

PMID: 37698934
DOI: 10.1172/jci.insight.162468
PMCID: PMC10619505

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