{
  "abstract": "The CACNA1C gene encodes the α1C subunit of voltage-gated CaV1.2 calcium channels, serving many pivotal functions throughout the body, including in the heart and brain. Clinical and genetic evidence implicates altered expression and/or function of CACNA1C/CaV1.2 in both cardiac and neuropsychiatric disease, including hypertension, cardiac arrhythmias, coronary artery disease, schizophrenia, bipolar disorder, depression, and autism. Gain-of-function mutations in CACNA1C cause Timothy syndrome, a potentially lethal multi-organ disorder with severe cardiac and neuropsychiatric defects. Conversely, the complete loss of Cacna1c is lethal in mice. The development of viable mouse and rat models with Cacna1c haploinsufficiency has allowed us to study the consequences of reduced expression and function of Cacna1c/CaV1.2 for heart and brain function from the molecular and cellular to the behavioral level. We review recent findings from these rodent models, revealing (i) alterations in behavior and (ii) in neuronal and non-neuronal function, as well as (iii) an impaired ability of the heart and its cardiomyocytes to adapt to (sympathetic) stress. Results lend further support to the notion that CACNA1C/CaV1.2 dysfunction represents a common link between cardiac and neuropsychiatric disorders and that appropriately targeting CACNA1C/CaV1.2 in selected patients may hold the promise of treating both conditions effectively with a single drug.",
  "abstract_shown": true,
  "affiliations": [
    "Institute of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Marburg University, Karl-von-Frisch-Str. 2 K|03, 35043 Marburg, Germany",
    "Social and Affective Neuroscience Research Group, Laboratory of Biological Psychology, Research Unit Brain and Cognition, Faculty of Psychology and Educational Sciences, KU Leuven, 3000 Leuven, Belgium",
    "Leuven Brain Institute, KU Leuven, 3000 Leuven, Belgium",
    "A.I.Virtanen Institute for Molecular Sciences, University of Eastern Finland, 70211 Kuopio, Finland",
    "Institute for Biomedicine, Eurac Research, 39100 Bolzano, Italy",
    "Department of Psychiatry, University of Münster, 48149 Münster, Germany",
    "Cells in Motion Interfaculty Cluster, University of Münster, 48149 Münster, Germany",
    "Social and Affective Neuroscience, Experimental and Biological Psychology, Faculty of Psychology, Marburg University, 35037 Marburg, Germany",
    "Center for Mind, Brain and Behavior (CMBB), Marburg University, 35032 Marburg, Germany"
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "David Königstein",
      "orcid": "0009-0004-8233-3729"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Theresa M. Kisko",
      "orcid": "0000-0001-9010-9568"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Susanne Michels",
      "orcid": "0000-0003-0347-7982"
    },
    {
      "affs": [
        5,
        6
      ],
      "name": "Judith Alferink",
      "orcid": "0000-0002-3251-6584"
    },
    {
      "affs": [
        1,
        2,
        7,
        8
      ],
      "name": "Markus Wöhr",
      "orcid": "0000-0001-6986-5684"
    },
    {
      "affs": [
        0,
        8
      ],
      "name": "Carsten Culmsee",
      "orcid": "0000-0002-5121-5015"
    },
    {
      "affs": [
        0
      ],
      "name": "Jens Kockskämper",
      "orcid": "0000-0003-0131-4338"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/carwq6jvec1jc.bib",
  "cited_by": 0,
  "doi": "10.3390/biom16101459",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13702660/?tool=EBI",
  "id": "carwq6jvec1jc",
  "issns": [
    "2218-273X"
  ],
  "landing_url": "https://www.mdpi.com/2218-273X/16/10/1459",
  "language": "eng",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2705|Cardiac electrophysiology and arrhythmias"
    ]
  ],
  "openalex": "W7220832233",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13702660/pdf/?tool=EBI",
  "pmcid": "PMC13702660",
  "pmid": null,
  "published": "2026-10-01",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/carwq6jvec1jc.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:59Z",
      "native_id": "10.3390/biom16101459",
      "source": "crossref",
      "url": "https://www.mdpi.com/2218-273X/16/10/1459"
    },
    {
      "first_seen": "2026-10-30T12:21:25Z",
      "native_id": "PMC:PMC13702660",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13702660"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2705|Cardiac electrophysiology and arrhythmias",
      "subfield": "cardiovascular"
    }
  ],
  "title": "Dual Role of CACNA1C/CaV1.2 in Cardiac and Neuropsychiatric Disease",
  "title_text": "Dual Role of CACNA1C/CaV1.2 in Cardiac and Neuropsychiatric Disease",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:25Z",
  "url": "https://research.draconitic.com/paper/carwq6jvec1jc",
  "venue": "Biomolecules",
  "versions": []
}