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Page 1
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP. Chen X, et al. Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24. Nature. 2024. PMID: 38658687 Free PMC article.
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions(1). ...
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsy
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.
Dufendach KA, Timothy K, Ackerman MJ, Blevins B, Pflaumer A, Etheridge S, Perry J, Blom NA, Temple J, Chowdhury D, Skinner JR, Johnsrude C, Bratincsak A, Bos JM, Shah M. Dufendach KA, et al. JACC Clin Electrophysiol. 2018 Apr;4(4):459-466. doi: 10.1016/j.jacep.2017.08.007. Epub 2017 Nov 6. JACC Clin Electrophysiol. 2018. PMID: 30067485 Free article.
OBJECTIVES: The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudden death in an international cohort of Timothy Syndrome (TS) patients including those with novel TS-associated CACNA1C mutation …
OBJECTIVES: The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudde …
A case report: Is mexiletine usage effective in the shortening of QTC interval and improving the T-wave alternans in Timothy syndrome?
Tunca Sahin G, Ergul Y. Tunca Sahin G, et al. Ann Noninvasive Electrocardiol. 2018 May;23(3):e12522. doi: 10.1111/anec.12522. Epub 2017 Nov 30. Ann Noninvasive Electrocardiol. 2018. PMID: 29194862 Free PMC article.
Timothy syndrome (TS) is a multisystemic disease that occurs because of a mutation in CACN1C gene and is characterized by prolonged QT interval. ...
Timothy syndrome (TS) is a multisystemic disease that occurs because of a mutation in CACN1C gene and is characterized by prol
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
Timothy syndrome 1 (TS1) is a multisystem disorder characterized by severe QT prolongation and potentially lethal ventricular arrhythmias in the first years of life, plus other cardiac and extracardiac manifestations caused by mutation in the CACNA1C gene, a CaV1.2
Timothy syndrome 1 (TS1) is a multisystem disorder characterized by severe QT prolongation and potentially lethal ventricular
Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.
An HS, Choi EY, Kwon BS, Kim GB, Bae EJ, Noh CI, Choi JY, Park SS. An HS, et al. J Korean Med Sci. 2013 May;28(5):788-91. doi: 10.3346/jkms.2013.28.5.788. Epub 2013 May 2. J Korean Med Sci. 2013. PMID: 23678275 Free PMC article.
Timothy syndrome, long QT syndrome type 8, is highly malignant with ventricular tachyarrhythmia. ...
Timothy syndrome, long QT syndrome type 8, is highly malignant with ventricular tachyarrhythmia. ...
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.
Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, Li L, Timothy KW, Zhang L, Li C, Yan GX. Gao Y, et al. Circ Arrhythm Electrophysiol. 2013 Jun;6(3):614-22. doi: 10.1161/CIRCEP.113.000092. Epub 2013 Apr 11. Circ Arrhythm Electrophysiol. 2013. PMID: 23580742 Review.
BACKGROUND: Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). ...This study aimed to explore the inheritance pattern and mechanism of an INa blocker, mexiletine, to improve clinica
BACKGROUND: Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406 …
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.
Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. Gillis J, et al. Am J Med Genet A. 2012 Jan;158A(1):182-7. doi: 10.1002/ajmg.a.34355. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106044 Free PMC article.
Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. ...Initial targeted mutation analysis did not identify either of the previousl
Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, h
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