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Timothy syndrome

A rare congenital disorder that results from de novo autosomal dominant mutations in the CACNA1C gene. It affects multiple organs and is characterized by long QT syndrome leading to lethal CARDIAC ARRHYTHMIAS. Other findings include syndactyly, distinctive FACIES, structural heart defects, immune deficiency, intermittent HYPOGLYCEMIA, cognitive deficits, and AUTISM. OMIM: 601005
Also Known As:
Long QT syndrome with syndactyly; Long Qt Syndrome 8
Networked: 57 relevant articles (3 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Long QT Syndrome
2. Autistic Disorder (Autism)
3. Andersen Syndrome
4. Syndactyly (Polysyndactyly)
5. Autism Spectrum Disorder

Experts

1. Paşca, Sergiu P: 5 articles (01/2022 - 11/2011)
2. Antzelevitch, Charles: 5 articles (12/2016 - 05/2007)
3. Dolmetsch, Ricardo E: 4 articles (12/2019 - 03/2011)
4. Yazawa, Masayuki: 4 articles (11/2017 - 03/2011)
5. Geschwind, Daniel H: 3 articles (01/2022 - 11/2011)
6. Timothy, Katherine W: 3 articles (01/2021 - 05/2007)
7. Panagiotakos, Georgia: 3 articles (12/2019 - 06/2013)
8. Bernstein, Jonathan A: 3 articles (01/2017 - 03/2011)
9. Hallmayer, Joachim: 3 articles (01/2017 - 03/2011)
10. Birey, Fikri: 2 articles (01/2022 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Timothy syndrome:
1. Mexiletine (Mexitil)FDA LinkGeneric
2. Calcium Channels (Calcium Channel)IBA
3. CalciumIBA
4. Proteins (Proteins, Gene)FDA Link
07/22/2011 - "Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein."
12/14/2017 - "Mutually exclusive splicing of exons is a mechanism of functional gene and protein diversification with pivotal roles in organismal development and diseases such as Timothy syndrome, cardiomyopathy and cancer in humans. "
03/07/2006 - "We propose that aberrant phosphorylation, or "phosphorylopathy," of the CaV1.2 channel protein contributes to the excitotoxicity associated with Timothy syndrome and with chronic cyclosporin treatment of transplant patients."
01/01/2013 - "In this review, we have summarized (1) the significance of unveiling mutations in genes encoding transporter-associated proteins as the cause of congenital LQTS, (2) the technique of catheter ablation applied at the right ventricular outflow tract may be curative for severely symptomatic BrS, (3) mutations with channel function modulated by protein Kinase A-dependent phosphorylation can be the culprit of CPVT mimicry in Andersen-Tawil syndrome (LQT7), (4) ablation of the ion channel anchoring protein may prevent arrhythmogenesis in Timothy syndrome (LQT8), (5) altered intracellular Ca2+ cycling can be the basis of effective targeted pharmacotherapy in CPVT, and (6) the technology of induced pluripotent stem cells is a promising diagnostic and research tool as it has become a new paradigm for pathophysiological study of patient- and disease-specific cells aimed at screening new drugs and eventual clinical application of gene therapy. "
5. RoscovitineIBA
6. RanolazineFDA Link
7. Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA
8. Ion Channels (Ion Channel)IBA
9. Coloring Agents (Dyes)IBA
10. Methyl ester 1,4- dihydro- 2,6- dimethyl- 5- nitro- 4- (2- (trifluoromethyl)phenyl)- 3-Pyridinecarboxylic acidIBA

Therapies and Procedures

1. Therapeutics
2. Catheter Ablation
3. Drug Therapy (Chemotherapy)
4. Anesthesia
5. Tourniquets