Associated Papers
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.
Underwood JFG et al.
Research Square, 2025
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Orphanet Journal of Rare Diseases, 2024
A Natural History Study of Timothy Syndrome.
Timothy KW et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C et al.
Expert Reviews in Molecular Medicine, 2023
Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.
Ozawa J et al.
Scientific Reports, 2022
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
33985586 (PubMed )
Supplement: 13023_2021_1850_MOESM2_ESM.docx
Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation.
Nugud AA et al.
Frontiers in Pediatrics, 2021
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R et al.
Frontiers in Pediatrics, 2021
Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly.
Han H et al.
Medicine, 2020
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.
Dufendach KA et al.
Jacc. Clinical Electrophysiology, 2018
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