Genetic disorders
CACNA1C -related disorders are a group ofrare diseases caused by variants in theCACNA1C L-type voltage-dependent calcium channel .Genomic sequencing has linked a number of heterogenousphenotypes to pathogenicvariants in theCACNA1C gene:[ 1]
CACNA1C -related disorders are inherited in anautosomal dominant manner.[ 2] CACNA1C -related disorders are primarilyneurological [ 3] developmental delay ,autism or autistic features, andseizures .[ 1] Facial dysmorphism may also be present.[ 4]
^a b Levy, Rebecca J.; Timothy, Katherine W.; Underwood, Jack F.G.; Hall, Jeremy; Bernstein, Jonathan A.; Pașca, Sergiu P. (January 2023)."A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder" Pediatric Neurology .138 :101– 106.doi :10.1016/j.pediatrneurol.2022.10.013 .PMID 36436328 . ^a b Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),"CACNA1C-Related Disorders" ,GeneReviews® , Seattle (WA): University of Washington, Seattle,PMID 20301577 , retrieved2022-12-12 ^ Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav (October 2021)."Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations" .Genetics in Medicine .23 (10):1922– 1932.doi :10.1038/s41436-021-01232-8 .PMC 8488020 PMID 34163037 . ^ Bauer, Rosemary; Timothy, Katherine W.; Golden, Andy (2021-05-17)."Update on the Molecular Genetics of Timothy Syndrome" .Frontiers in Pediatrics .9 668546.doi :10.3389/fped.2021.668546 ISSN 2296-2360 .PMC 8165229 PMID 34079780 .
