The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.

doi:10.1172/jci.insight.162100

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Article

The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.

JCI insight - 23 Oct 2023

Ortner Nadine J, Sah Anupam, Paradiso Enrica, Shin Josef, Stojanovic Strahinja, Hammer Niklas, Haritonova Maria, Hofer Nadja T, Marcantoni Andrea, Guarina Laura, Tuluc Petronel, Theiner Tamara, Pitterl Florian, Ebner Karl, Oberacher Herbert, Carbone Emilio, Stefanova Nadia, Ferraguti Francesco, Singewald Nicolas, Roeper Jochen, Striessnig Jörg

Abstract excerpt

Germline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1 subunit of Cav1.3 L-type Ca2+ channels (LTCCs), have been found in patients with neurodevelopmental and endocrine dysfunction, but their disease-causing potential is unproven. These variants alter channel gating, enabling enhanced Cav1.3 activity, suggesting Cav1.3 inhibition as a potential therapeutic option. Here we provide...

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PMID: 37698939
DOI: 10.1172/jci.insight.162100
PMCID: PMC10619503

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