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A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.
Levy RJ, Timothy KW, Underwood JFG, Hall J, Bernstein JA, Pașca SP. Levy RJ, et al. Pediatr Neurol. 2023 Jan;138:101-106. doi: 10.1016/j.pediatrneurol.2022.10.013. Epub 2022 Nov 2. Pediatr Neurol. 2023. PMID: 36436328
A specific gain-of-function pathogenic variant in CACNA1C causes Timothy syndrome type 1 (TS1) with cardiac long QT syndrome, syndactyly, and neuropsychiatric symptoms. ...
A specific gain-of-function pathogenic variant in CACNA1C causes Timothy syndrome type 1 (TS1) with cardiac long …
A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome.
Trancuccio A, Tarifa C, Bongianino R, Priori SG, Santiago DJ. Trancuccio A, et al. Sci Rep. 2024 Nov 30;14(1):29792. doi: 10.1038/s41598-024-80726-2. Sci Rep. 2024. PMID: 39616198 Free PMC article.
Timothy syndrome type 1 (TS1), a malignant variant of Long QT Syndrome, is caused by L-type Ca2+ Channel (LTCC) inactivation defects secondary to the p.Gly406Arg mutation in the CACNA1C gene. ...
Timothy syndrome type 1 (TS1), a malignant variant of Long QT Syndrome, is caused by L-type Ca2+ Channel (LTCC)
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.
Corona-Rivera JR, Barrios-Prieto E, Nieto-García R, Bloise R, Priori S, Napolitano C, Bobadilla-Morales L, Corona-Rivera A, Zapata-Aldana E, Peña-Padilla C, Rivera-Vargas J, Chavana-Naranjo E. Corona-Rivera JR, et al. Eur J Med Genet. 2015 Jun-Jul;58(6-7):332-5. doi: 10.1016/j.ejmg.2015.04.001. Epub 2015 Apr 13. Eur J Med Genet. 2015. PMID: 25882468
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
Hiippala A, Tallila J, Myllykangas S, Koskenvuo JW, Alastalo TP. Hiippala A, et al. Am J Med Genet A. 2015 Mar;167A(3):629-34. doi: 10.1002/ajmg.a.36924. Am J Med Genet A. 2015. PMID: 25691416
Ventricular tachyarrhythmia is the leading cause of death at early age. Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A. ...
Ventricular tachyarrhythmia is the leading cause of death at early age. Classical Timothy syndrome type 1 (TS1) …
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?
Diep V, Seaver LH. Diep V, et al. Am J Med Genet A. 2015 Nov;167A(11):2780-5. doi: 10.1002/ajmg.a.37258. Epub 2015 Jul 31. Am J Med Genet A. 2015. PMID: 26227324
Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, syndactyly, seizures, developmental delay, and autism. Timothy syndrome type 1 is caused by a recurrent de novo mu …
Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, sy …