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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 2024 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Feb 15 [updated 2024 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 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 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 …
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.
Cipriano L, Piscopo R, Aiello C, Novelli A, Iolascon A, Piscopo C. Cipriano L, et al. Children (Basel). 2024 Apr 30;11(5):541. doi: 10.3390/children11050541. Children (Basel). 2024. PMID: 38790536 Free PMC article. Review.
Conclusions: The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. ...These findings suggest the high variable expr …
Conclusions: The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurologi …
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 …
CACNA1C rs1006737 genotype and bipolar disorder: Focus on intermediate phenotypes and cardiovascular comorbidity.
Ou X, Crane DE, MacIntosh BJ, Young LT, Arnold P, Ameis S, Goldstein BI. Ou X, et al. Neurosci Biobehav Rev. 2015 Aug;55:198-210. doi: 10.1016/j.neubiorev.2015.04.022. Epub 2015 May 11. Neurosci Biobehav Rev. 2015. PMID: 25976633 Review.
Recently, multiple genome-wide association studies have identified a genetic polymorphism (CACNA1C rs1006737) that appears to confer susceptibility for BD. This article aims to summarize the existing literature regarding the impact of rs1006737 on functional and structural …
Recently, multiple genome-wide association studies have identified a genetic polymorphism (CACNA1C rs1006737) that appears to confer …
1,219 results