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Page 1
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE. Herold KG, et al. Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624. Handb Exp Pharmacol. 2023. PMID: 36598608 Free PMC article. Review.
The CACNA1C gene encodes the pore-forming subunit of the Ca(V)1.2 L-type Ca(2+) channel, a critical component of membrane physiology in multiple tissues, including the heart, brain, and immune system. ...Since this initial description, the number and variety of disease-ass …
The CACNA1C gene encodes the pore-forming subunit of the Ca(V)1.2 L-type Ca(2+) channel, a critical component of membrane physiology …
CACNA1C-Related Disorders.
Napolitano C, Priori SG. Napolitano C, et al. 2006 Feb 15 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Feb 15 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301577 Free Books & Documents. Review.
GENETIC COUNSELING: CACNA1C-related disorders are inherited in an autosomal dominant manner. Many individuals diagnosed with a CACNA1C-related disorder - particularly those individuals with a syndromic CACNA1C-related disorder (Timothy syndrome or CACNA1C …
GENETIC COUNSELING: CACNA1C-related disorders are inherited in an autosomal dominant manner. Many individuals diagnosed with a CAC …
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
PURPOSE: CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. ...
PURPOSE: CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Hetero …
CACNA1C: Association With Psychiatric Disorders, Behavior, and Neurogenesis.
Moon AL, Haan N, Wilkinson LS, Thomas KL, Hall J. Moon AL, et al. Schizophr Bull. 2018 Aug 20;44(5):958-965. doi: 10.1093/schbul/sby096. Schizophr Bull. 2018. PMID: 29982775 Free PMC article. Review.
CACNA1C encodes the Cav1.2 subunit of voltage-gated calcium channels, which themselves have been functionally implicated in a broad spectrum of neuropsychiatric syndromes. ...The impact of reduced gene dosage of Cacna1c on adult hippocampal neurogenesis is also asse …
CACNA1C encodes the Cav1.2 subunit of voltage-gated calcium channels, which themselves have been functionally implicated in a broad s …
CACNA1C (rs1006737) may be a susceptibility gene for schizophrenia: An updated meta-analysis.
Zhu D, Yin J, Liang C, Luo X, Lv D, Dai Z, Xiong S, Fu J, Li Y, Lin J, Lin Z, Wang Y, Ma G. Zhu D, et al. Brain Behav. 2019 Jun;9(6):e01292. doi: 10.1002/brb3.1292. Epub 2019 Apr 29. Brain Behav. 2019. PMID: 31033230 Free PMC article.
Genome-wide association studies (GWAS) have identified the alpha-1C subunit of the L-type voltage-gated calcium channel (CACNA1C) gene as a significant risk gene for schizophrenia. However, there are inconsistent conclusions in case-control studies. ...CONCLUSION: Our find …
Genome-wide association studies (GWAS) have identified the alpha-1C subunit of the L-type voltage-gated calcium channel (CACNA1C) gen …
CACNA1C (Ca(V)1.2) and other L-type calcium channels in the pathophysiology and treatment of psychiatric disorders: Advances from functional genomics and pharmacoepidemiology.
Harrison PJ, Husain SM, Lee H, Los Angeles A, Colbourne L, Mould A, Hall NAL, Haerty W, Tunbridge EM. Harrison PJ, et al. Neuropharmacology. 2022 Dec 1;220:109262. doi: 10.1016/j.neuropharm.2022.109262. Epub 2022 Sep 22. Neuropharmacology. 2022. PMID: 36154842 Free PMC article. Review.
First, there is now robust genomic evidence that common variants in VGCC subunit genes, notably CACNA1C which encodes the L-type calcium channel (LTCC) Ca(V)1.2 subunit, are trans-diagnostically associated with psychiatric disorders including schizophrenia and bipolar diso …
First, there is now robust genomic evidence that common variants in VGCC subunit genes, notably CACNA1C which encodes the L-type calc …
Association of CACNA1C polymorphisms (rs1006737, rs4765905, rs2007044) with schizophrenia: A meta-analysis and trial sequential analysis.
Sarangi S, Sharma S, Nahak SK, Panda AK. Sarangi S, et al. Schizophr Res. 2024 Dec;274:247-256. doi: 10.1016/j.schres.2024.09.029. Epub 2024 Oct 7. Schizophr Res. 2024. PMID: 39378823
Several studies have been performed in different populations to explore the association of common genetic variants in the CACNA1C gene with susceptibility to the development of schizophrenia, but results remain contradictory. To draw a definitive conclusion on the associat …
Several studies have been performed in different populations to explore the association of common genetic variants in the CACNA1C gen …
Pleiotropic Association of CACNA1C Variants With Neuropsychiatric Disorders.
Wang Z, Lin X, Luo X, Xiao J, Zhang Y, Xu J, Wang S, Zhao F, Wang H, Zheng H, Zhang W, Lin C, Tan Z, Cao L, Wang Z, Tan Y, Chen W, Cao Y, Guo X, Pittenger C, Luo X. Wang Z, et al. Schizophr Bull. 2023 Sep 7;49(5):1174-1184. doi: 10.1093/schbul/sbad073. Schizophr Bull. 2023. PMID: 37306960 Free PMC article.
METHOD: A total of 70,711 subjects from 37 independent cohorts with 13 different neuropsychiatric disorders were meta-analyzed to identify overlap of disorder-associated SNPs within CACNA1C. The differential expression of CACNA1C mRNA in five independent postmortem …
METHOD: A total of 70,711 subjects from 37 independent cohorts with 13 different neuropsychiatric disorders were meta-analyzed to identify o …
Key Roles of CACNA1C/Cav1.2 and CALB1/Calbindin in Prefrontal Neurons Altered in Cognitive Disorders.
Datta D, Yang S, Joyce MKP, Woo E, McCarroll SA, Gonzalez-Burgos G, Perone I, Uchendu S, Ling E, Goldman M, Berretta S, Murray J, Morozov Y, Arellano J, Duque A, Rakic P, O'Dell R, van Dyck CH, Lewis DA, Wang M, Krienen FM, Arnsten AFT. Datta D, et al. JAMA Psychiatry. 2024 Sep 1;81(9):870-881. doi: 10.1001/jamapsychiatry.2024.1112. JAMA Psychiatry. 2024. PMID: 38776078 Free PMC article.
IMPORTANCE: The risk of mental disorders is consistently associated with variants in CACNA1C (L-type calcium channel Cav1.2) but it is not known why these channels are critical to cognition, and whether they affect the layer III pyramidal cells in the dorsolateral prefront …
IMPORTANCE: The risk of mental disorders is consistently associated with variants in CACNA1C (L-type calcium channel Cav1.2) but it i …
1,327 results