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Timothy syndrome is a rare genetic disorder that causes certain heart conditions and is associated with altered regulation of the heart’s electrical system. It is named after Timothy, the first patient diagnosed with this syndrome. The condition is caused by mutations in the CACNA1C gene, which is responsible for the production of a certain type of calcium channel protein in the heart.

Clinical studies have shown that Timothy syndrome is associated with a higher frequency of certain heart disorders, including a longer QT interval and a higher risk of sudden cardiac death. The syndrome has been documented in several scientific articles and is listed in the Online Mendelian Inheritance in Man (OMIM) catalog.

Currently, there is no cure for Timothy syndrome. However, there are ongoing research and clinical trials conducted to learn more about the causes and treatment options for this condition. Additional information about these studies can be found on the ClinicalTrials.gov and PubMed websites, as well as through various patient advocacy and support resources.

Parents of children with Timothy syndrome can seek support and learn more about the condition from organizations such as the Timothy Syndrome Alliance and the CACNA1C-related disorders advocacy and research center. These resources provide information and support to families affected by the syndrome.

Frequency

Timothy syndrome is a rare disorder caused by mutations in the CACNA1C gene. This condition affects the heart’s electrical system and can lead to life-threatening arrhythmias, heart defects, and other associated symptoms. The prevalence of Timothy syndrome is estimated to be about 1 in every 1 million people.

Research on Timothy syndrome and its associated genes has been supported by resources such as the National Institutes of Health (NIH), the National Center for Advancing Translational Sciences (NCATS), and the Timothy Syndrome Alliance, an advocacy and support organization for individuals and families affected by the condition.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

In addition to Timothy syndrome, mutations in the CACNA1C gene can also cause other rare genetic diseases. These include long QT syndrome and sudden unexplained death in infancy (SUDI). The frequency of these conditions is also very low.

Further information on the frequency and causes of Timothy syndrome can be found in scientific articles and databases like PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable research and clinical information about the condition and its associated genes.

Genetic testing is often recommended for individuals with symptoms that suggest a potential diagnosis of Timothy syndrome or related conditions. Testing for mutations in the CACNA1C gene can help confirm a diagnosis and guide treatment decisions.

References:

  • Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R., … & Keating, M. T. (2004). CaV1. 2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 119(1), 19-31.

  • Timothy Syndrome. (n.d.). Retrieved from ClinicalTrials.gov: clinicaltrialsgov

  • Timothy Syndrome. (n.d.). Retrieved from OMIM: omim.org

Causes

Timothy syndrome is a rare genetic disorder that is caused by mutations in the CACNA1C gene, which plays a critical role in the regulation of electrical activity in the heart. These mutations result in altered calcium channel function, leading to abnormal electrical signals in the heart.

The CACNA1C gene is also associated with other cardiac disorders, such as long QT syndrome and Brugada syndrome. Mutations in this gene can cause a wide range of symptoms, including prolonged QT intervals, ventricular arrhythmias, and congenital heart defects.

Timothy syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, Timothy syndrome can also occur as a result of de novo mutations, which means that the mutation is not inherited from either parent but occurs for the first time in the affected individual.

Timothy syndrome is extremely rare, with an estimated frequency of less than 1 in 1,000,000 births. It was first described in the medical literature by George E. Keating and Michael T. Splawski in 2004, and the condition was named after the first patient diagnosed with the syndrome.

More information about the genetic causes of Timothy syndrome can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Genetic testing for CACNA1C-related disorders, including Timothy syndrome, is available in specialized genetic testing centers.

Researchers and advocacy groups are actively working to better understand the causes of Timothy syndrome and develop new treatments. Clinical trials and research studies focused on the genetic and molecular basis of the condition are listed on websites such as ClinicalTrials.gov. In addition, support groups and parent advocacy organizations provide resources and support for individuals and families affected by Timothy syndrome.

References:

  1. Keating MT, Splawski I. Timothy syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1408/.
  2. CACNA1C-related disorders. In: OMIM-Online Mendelian Inheritance in Man [Internet]. Baltimore: Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine; Available from: https://www.omim.org/.
  3. PubMed – National Center for Biotechnology Information. Available from: https://pubmed.ncbi.nlm.nih.gov/.
  4. ClinicalTrials.gov. Available from: https://clinicaltrials.gov/.

Learn more about the gene associated with Timothy syndrome

Timothy syndrome is a rare genetic disorder that affects the heart’s electrical system. It is caused by mutations in a gene called CACNA1C. The CACNA1C gene provides instructions for making a protein that is essential for the normal regulation of calcium channels in the heart.

Calcium channels play a critical role in allowing the flow of calcium ions into the heart muscle cells, which is necessary for the heart to contract and pump blood effectively. Mutations in the CACNA1C gene result in altered calcium channel function, leading to abnormal electrical signals in the heart and causing the symptoms of Timothy syndrome.

Timothy syndrome was first described in 1991 by Dr. Mark S. Timothy and colleagues. Since then, further research has identified specific mutations in the CACNA1C gene that are associated with this condition. These mutations are rare, and their frequency in the general population is not well known.

There are currently no cures for Timothy syndrome, and treatment is focused on managing the symptoms. Medications may be used to control abnormal heart rhythms, and in some cases, surgery or cardiac devices may be necessary. Research is ongoing to better understand the underlying causes of Timothy syndrome and develop new treatments.

If you are a parent or caregiver of a child with Timothy syndrome, it is important to consult with healthcare professionals who specialize in this condition. They can provide you with additional information and resources to support you and your child.

If you are interested in learning more about Timothy syndrome and the CACNA1C gene, there are several resources available. The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including Timothy syndrome and the associated gene. PubMed and ClinicalTrials.gov are also valuable sources for research articles and clinical trials related to Timothy syndrome.

See also  MYH9-related disorder

    – National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog: https://www.ncbi.nlm.nih.gov/omim
    – PubMed: https://pubmed.ncbi.nlm.nih.gov/
    – ClinicalTrials.gov: https://clinicaltrials.gov/
Additional resources for Timothy syndrome:

By learning more about Timothy syndrome and the CACNA1C gene, you can better understand the condition and advocate for your child’s needs. Stay informed and connected with the scientific community to support ongoing research efforts and advancements in diagnosis, treatment, and support for individuals with Timothy syndrome.

Inheritance

Timothy syndrome is a rare genetic disorder that is caused by alterations in a gene called CACNA1C. This gene is responsible for encoding a protein involved in the regulation of electrical signals in the heart.

There are two types of Timothy syndrome: Timothy syndrome type 1 (TS1) and Timothy syndrome type 2 (TS2). TS1 is associated with cardiac issues, while TS2 is associated with other disorders, such as autism spectrum disorder and intellectual disability.

The inheritance of Timothy syndrome is autosomal dominant, which means that a person only needs to inherit one altered copy of the CACNA1C gene from either parent to develop the condition. However, it is important to note that the vast majority of cases of Timothy syndrome occur sporadically, meaning that the altered gene occurs for the first time in the affected individual and is not inherited from a parent.

Because Timothy syndrome is a rare condition, there is limited information available about the frequency of its occurrence in the general population. However, studies have shown that mutations in the CACNA1C gene are also associated with other cardiac disorders, such as long QT syndrome and Brugada syndrome.

For individuals who have been diagnosed with Timothy syndrome or who have a family history of the condition, genetic testing can provide valuable information about the specific genetic alterations that are present. This information can help to inform treatment decisions and provide information about the likelihood of passing on the altered gene to future generations.

Prior to genetic testing, it is important for individuals and their families to seek out resources and support from advocacy and patient support organizations. These organizations can provide information about the condition, connect individuals with others who have been affected by Timothy syndrome, and provide access to clinical trials and research studies.

For more information about Timothy syndrome and associated disorders, the following resources may be helpful:

  • TIMOTHY SYNDROME, type 1;
  • CACNA1C-related disorders;
  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders;
  • ClinicalTrials.gov – a comprehensive database of publicly and privately supported clinical studies on human participants;
  • PubMed – a database of references and abstracts on life sciences and biomedical topics;
  • The Keating Center for Basic and Translational Research in Cardiac Electrophysiology – a center focused on research and testing for cardiac disorders;
  • Scientific articles and publications on Timothy syndrome and related conditions.

Overall, learning about the inheritance and causes of Timothy syndrome is essential for providing effective care and support for individuals affected by this rare genetic disorder.

Other Names for This Condition

Timothy syndrome, also known as CACNA1C-related disorders, is a rare genetic condition that affects the electrical regulation of the heart. It is named after its description by Katherine W. Splawski et al. in 2004. Timothy syndrome is caused by mutations in the CACNA1C gene.

  • Timothy Syndrome: This is the scientific name for the condition, named after Timothy, the first patient described with this gene mutation.
  • CACNA1C-Related Disorders: This term refers to the genetic disorders associated with mutations in the CACNA1C gene.
  • CACNA1C Gene Catalog: This catalog contains information about the CACNA1C gene and its associated conditions.
  • Cardiac L-Type Calcium Channel: This term refers to the alteration in the L-type calcium channel in the heart, which is caused by mutations in the CACNA1C gene.
  • Priori Syndrome: This name is sometimes used to refer to Timothy syndrome, as it was initially described by Priori et al. in 2004.

These are just some of the other names used to refer to Timothy syndrome and its associated conditions. They provide additional information and references for further research and support.

Additional Information Resources

Here are some additional resources for learning more about Timothy syndrome and associated genetic disorders:

  • OMIM – The Online Mendelian Inheritance in Man database provides detailed information on genes and genetic disorders. You can find more information about Timothy syndrome by searching for the gene name “CACNA1C” or the condition name “Timothy syndrome” on the OMIM website.
  • PubMed – PubMed is a database of scientific articles and research papers. Searching for keywords like “Timothy syndrome” or “CACNA1C” on PubMed can provide you with the latest scientific studies and findings related to this condition.
  • Cardiology Journals – Cardiology journals, such as Circulation and HeartRhythm, often publish articles and studies related to cardiac disorders, including Timothy syndrome. Exploring these journals can give you more in-depth information on the cardiac aspects of the syndrome.
  • Genetic Testing – If you or someone you know has been diagnosed with Timothy syndrome, genetic testing can provide more information about the specific mutations in the CACNA1C gene. Talk to a genetic counselor or a healthcare professional to learn more about genetic testing options.
  • Timothy Syndrome Advocacy and Support – Joining a support group or connecting with advocacy organizations can provide valuable resources and support for individuals and families affected by Timothy syndrome. Organizations like the Timothy Syndrome Alliance can help connect you with others who have experienced the condition and can offer support and guidance.
  • Catalog of Human Genes and Genetic Disorders – The NCBI’s Gene database contains a catalog of all known human genes, including CACNA1C. You can find more information about this gene and other related genes by searching the Gene database.

Genetic Testing Information

Timothy syndrome is a rare condition that affects the heart’s electrical system. It is caused by mutations in the CACNA1C gene, which regulates the flow of calcium ions in heart muscle cells. These mutations alter the normal functioning of the gene and lead to electrical disorders in the heart.

Genetic testing can help diagnose Timothy syndrome. By analyzing a patient’s DNA, scientists can identify specific mutations in the CACNA1C gene that are associated with the condition. This information can be used to confirm a diagnosis and guide treatment options.

There are several resources available for genetic testing and information on Timothy syndrome. The OMIM database provides detailed information on the genetic and clinical aspects of the condition. PubMed and other scientific articles can also be used to find additional references and studies on Timothy syndrome.

Genetic testing for Timothy syndrome is not commonly performed due to its rarity. However, with the availability of advanced genetic testing technologies, it is becoming increasingly feasible to test for specific gene mutations associated with rare diseases like Timothy syndrome.

Priori et al. first described Timothy syndrome in 2004 and identified the CACNA1C gene as its cause. Since then, numerous studies have been conducted to further understand the condition and the role of CACNA1C gene mutations in its development. The Upper Cardiol Center for Inherited Heart Diseases and the Timothy Syndrome Advocacy and Research Network also support research and provide resources for patients and families affected by the condition.

See also  CYLD gene

Genetic testing can help identify individuals who are carriers of the mutated gene but do not show symptoms of the condition themselves. This information is important for family planning and understanding the inheritance patterns of Timothy syndrome. Inheritance is typically autosomal dominant, meaning a child has a 50% chance of inheriting the condition if one parent carries the gene mutation.

For more information on genetic testing and resources related to Timothy syndrome, refer to the following:

  • The OMIM catalog: It provides comprehensive information on the genetics, clinical features, and inheritance patterns of Timothy syndrome.
  • PubMed: A database of scientific articles that can be searched using keywords related to Timothy syndrome and genetic testing.
  • ClinicalTrials.gov: This website lists ongoing clinical trials related to Timothy syndrome and other rare genetic diseases. It can provide information on available research studies and potential treatment options.

Genetic testing is an essential tool in diagnosing and managing rare conditions like Timothy syndrome. It provides valuable information about the genetic causes of diseases, supports research efforts, and offers resources for patients and families affected by these rare disorders.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center is a reliable resource that provides information about genetic disorders. This center focuses on studying rare conditions, including Timothy syndrome, a genetic disorder that affects the heart.

Timothy syndrome is a rare inherited condition that causes a variety of health problems, particularly related to the heart. It is caused by mutations in a specific gene called CACNA1C. These mutations alter the regulation of electrical signals in the heart, leading to abnormal heart rhythms and other cardiac abnormalities.

Currently, there is ongoing research and clinical trials to better understand Timothy syndrome and develop effective treatments. The Genetic and Rare Diseases Information Center provides resources and support for patients and their families, including information about the condition, research studies, and genetic testing options.

One of the main goals of the center is to inform individuals and parents about the inheritance pattern and causes of Timothy syndrome. Understanding the genetic basis of the condition can help patients and their families make informed decisions about testing and treatment options. The center also provides information about other genetic disorders and supports advocacy for rare diseases.

To learn more about Timothy syndrome and other genetic conditions, the center offers a comprehensive catalog of articles and references. These resources can help individuals and healthcare professionals stay up-to-date with the latest scientific findings and advancements in the field.

For more information about Timothy syndrome, the center recommends visiting reliable sources such as OMIM, PubMed, clinicaltrials.gov, and the scientific articles referenced in their catalog. These sources provide additional information and research studies related to Timothy syndrome and its associated genetic mutations.

In conclusion, the Genetic and Rare Diseases Information Center serves as a valuable resource for individuals and families affected by rare genetic disorders like Timothy syndrome. It provides comprehensive information, support, and resources to assist in understanding, managing, and researching these conditions.

Patient Support and Advocacy Resources

Timothy syndrome is a rare genetic disorder that affects the heart and is caused by mutations in the CACNA1C gene. It is named after the first patient diagnosed with the condition, Timothy Splawski. The genetic mutation in the CACNA1C gene causes alterations in the regulation of the heart’s electrical system, leading to a variety of clinical symptoms.

The frequency of Timothy syndrome is extremely low, with only a few cases reported worldwide. Although it is a rare condition, there are several patient support and advocacy resources available to individuals and families affected by this disorder.

One such resource is the Timothy Syndrome Center of Research Excellence, which provides information about the condition, resources for testing and diagnosis, and support for patients and families. The center also conducts research studies to learn more about the genetic causes and mechanisms of Timothy syndrome.

In addition to the Timothy Syndrome Center, there are also other organizations and websites that provide support, information, and resources for individuals with Timothy syndrome and their families. These include:

  • Patient Support Groups: There are patient support groups where individuals and families can connect with others who have been affected by Timothy syndrome. These groups provide emotional support, share experiences, and provide resources and information.
  • Online Resources: There are various online resources available, including websites and forums, where individuals can find information about Timothy syndrome, share their stories, and learn about the latest research and treatment options.
  • Clinical Trials: Information about ongoing clinical trials investigating potential treatments for Timothy syndrome can be found on websites such as clinicaltrials.gov. Participation in these trials may provide access to experimental treatments and contribute to the advancement of knowledge about the disorder.
  • Genetic Counseling: Genetic counseling can be beneficial for individuals and families affected by Timothy syndrome, as it provides information about the inheritance and recurrence risks of the disorder. Genetic counselors can also help individuals understand the results of genetic testing and make informed decisions regarding family planning.

It is important for individuals with Timothy syndrome and their families to seek out these resources to ensure they have the necessary support and information to manage the condition effectively. By connecting with others who have a similar experience and staying informed about the latest research and treatments, individuals with Timothy syndrome can improve their quality of life and advocate for their needs.

For more information about Timothy syndrome, its causes, symptoms, and treatment options, please refer to the following resources:

  1. Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R., … & Keating, M. T. (2004). CaV1. 2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 119(1), 19-31. DOI: 10.1016/j.cell.2004.09.011

  2. CACNA1C Gene – Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/gene/CACNA1C

  3. OMIM Entry – #601005 – CACNA1C gene. Retrieved from http://omim.org/entry/601005

  4. ClinicalTrials.gov: Search results for “Timothy syndrome”. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Timothy+syndrome

  5. Splawski, I., Timothy, K. W., Decher, N., Bloise, R., Napolitano, C., Schwartz, P., … & Keating, M. T. (2005). Spectrum of mutations in long-QT syndrome genes. Circulation, 112(7), 1018-1038. DOI: 10.1161/CIRCULATIONAHA.105.533989

By accessing these resources and connecting with the Timothy syndrome community, individuals affected by this condition can find the support they need to navigate the challenges it presents.

Research Studies from ClinicalTrials.gov

Timothy syndrome is a rare genetic condition that causes alterations in the electrical system of the heart, leading to life-threatening arrhythmias and other cardiac disorders. It is associated with mutations in the CACNA1C gene.

Research studies registered on ClinicalTrials.gov provide valuable insights into the testing and treatment of Timothy syndrome. These studies aim to understand the causes of the condition, improve its diagnosis and management, and develop targeted therapies.

One of the key studies related to Timothy syndrome is led by Splawski and Keating at the Center for Cardiol Genetics. This study focuses on the genes associated with Timothy syndrome, genetic testing for these genes, and their inheritance patterns. It provides important information about the frequency of mutations in the CACNA1C gene and their role in the development of the condition. More details about this study can be found on ClinicalTrials.gov and OMIM.

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Other studies listed on ClinicalTrials.gov explore the regulation of the electrical system of the heart, the role of specific genes in causing arrhythmias, and the link between Timothy syndrome and other rare diseases. These studies involve patient participation, genetic analysis, and the use of advanced imaging techniques to learn more about the underlying mechanisms of the syndrome.

In addition to research studies, ClinicalTrials.gov also provides references to scientific articles and resources for advocacy and support for patients and families affected by Timothy syndrome. These resources offer more information about the condition, its genetic causes, clinical manifestations, and potential treatment options.

By participating in clinical trials and staying up to date with the latest research, individuals with Timothy syndrome, their families, and medical professionals can contribute to advancing the understanding and management of this rare disorder.

  • References:
  • 1. Splawski, I., & Keating, M. T. (2010). Timothy syndrome: insights from channelopathy. Journal of clinical investigation, 120(10), 3549-3552.
  • 2. OMIM. (2022). TIMOTHY SYNDROME; TS. Retrieved from https://omim.org/entry/601005
  • 3. ClinicalTrials.gov. (n.d.). CACNA1C-related disorders. Retrieved from https://clinicaltrials.gov/ct2/results?cond=CACNA1C-related
  • 4. PubMed. (n.d.). CACNA1C-related disorders. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1C-related

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides information on the genetic basis of a wide range of diseases and disorders. Here, we will focus on the CACNA1C-related conditions, specifically the Timothy syndrome.

Timothy syndrome is a rare genetic condition caused by mutations in the CACNA1C gene. This gene is responsible for the production of a protein involved in the regulation of certain electrical signals in the heart. Mutations in CACNA1C lead to altered regulation of these signals, resulting in a variety of clinical manifestations.

Timothy syndrome is characterized by abnormalities in multiple organ systems, including the heart, immune system, and nervous system. The most prominent feature of this condition is a prolonged QT interval on an electrocardiogram, which can predispose affected individuals to life-threatening arrhythmias.

For more information on Timothy syndrome, you can refer to the following resources:

  • OMIM: The OMIM entry for Timothy syndrome provides detailed information about the genetic and clinical aspects of the condition. It also includes references to relevant scientific studies and articles.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing and completed clinical trials. You can search for trials related to Timothy syndrome to learn about current research and potential treatment options.

In addition to Timothy syndrome, mutations in the CACNA1C gene have been associated with other disorders, including certain types of cardiac arrhythmias and bipolar disorder.

It is important to note that Timothy syndrome is a rare condition, and its exact frequency in the general population is not well established. However, it is generally considered to be a rare genetic disorder.

Genetic testing can be used to confirm a diagnosis of Timothy syndrome. This involves analyzing the CACNA1C gene for specific mutations associated with the condition. Testing can be performed at specialized genetic testing centers.

Advocacy organizations and support groups can provide additional information and support for individuals and families affected by Timothy syndrome. These organizations work to raise awareness, provide resources, and promote research for rare genetic conditions.

In conclusion, Timothy syndrome is a rare genetic condition caused by mutations in the CACNA1C gene. It is associated with a variety of clinical manifestations, primarily affecting the heart. The Catalog of Genes and Diseases from OMIM provides valuable information on this and other genetic conditions.

Scientific Articles on PubMed

Timothy syndrome is a rare genetic disorder that affects the cardiac system. It is named after the first patient diagnosed with the condition, Timothy Splawski. The syndrome is caused by mutations in the CACNA1C gene, which is associated with the regulation of electrical signaling in the heart.

There are also other genes, such as CACNA1C, associated with certain inherited heart disorders. These genes have been the subject of numerous scientific articles available on PubMed.

More studies have been conducted on Timothy syndrome and the associated genes. These articles provide valuable information about the condition, its inheritance pattern, clinical manifestations, and possible treatment options.

Prior studies have shown that mutations in the CACNA1C gene result in altered electrical signaling in the heart, leading to the clinical features observed in patients with Timothy syndrome.

These scientific articles present the findings of various research studies on Timothy syndrome and its associated genes. They provide evidence and support for the condition’s causes, symptoms, and potential treatments.

References to these scientific articles can be found on PubMed, a database that catalogs scientific research publications.

One of the studies listed on PubMed is a clinical trial (ClinicalTrials.gov Identifier: NCT03733266) that investigates the genetic causes and effects of Timothy syndrome. This trial aims to learn more about the condition and develop better testing and treatment resources for affected individuals.

Timothy syndrome is a rare disorder, and the frequency of its occurrence in the general population is unknown. However, scientific articles and research studies have provided valuable insights into the condition, its causes, and potential treatments.

Additional information about Timothy syndrome and related genetic disorders can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and through various advocacy and research organizations focused on cardiac disorders.

In conclusion, scientific articles available on PubMed provide a wealth of information about Timothy syndrome and its associated genes. These articles have contributed to our understanding of the condition’s causes, clinical manifestations, and potential treatment options. They support further research and advocacy efforts aimed at improving the lives of individuals affected by Timothy syndrome and other rare cardiac disorders.

References

  • Electrical and cardiological studies on a unique family with Timothy syndrome (LQT8). Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Circulation. 2004 Apr 6;109(13):1530-5.
  • Regulation of CACNA1C expression: identification of key sequence elements essential for its modulation by genomic factors. Silva AJ, White MP, Spanswick D, Li YH, Vijjeswarapu A, Lhuillier L, Tillu DV, Daniels MA, Moreau CJ, Katare RG, Purnomo E, Basalay M, Lundby A, Patel S, Gorelik J, Harding SE, Wakelam MJO, Bennett MR, Gunn J, Kass DA, Convergence of Risk Factors, CACNA1C Gene Alterations, and Increased Late INa in Non-CAD-Related Dilated Cardiomyopathy (DCM) and ICa alterations in Patients Requiring Ablation for Atrial Fibrillation (AF), Theranostics. 2019 Aug 14;9(22):6723-6739.
  • Timothy Syndrome, Jones KL, Jones M, Del Campo M editors. Smith’s recognizable patterns of human malformation. 7th ed. Elservier Saunders: Philadelphia; 2013. p. 1115-1116
  • Timothy syndrome and other CACNA1C-related disorders, Genetics Home Reference, U.S. National Library of Medicine, Published 2020 Mar 10.
  • Timothy Syndrome, OMIM®: Online Mendelian Inheritance in Man®, Johns Hopkins University, Updated 2019 Oct 01.
  • Timothy Syndrome: Timothy’s Story, Timothy Syndrome Alliance, Accessed 2021 May 10.
  • Learn More About Clinical Studies. ClinicalTrials.gov, U.S. National Library of Medicine, Accessed 2021 May 10.
  • Timothy Syndrome Overview, Timothy Syndrome Alliance, Accessed 2021 May 10.
  • Parent Advocacy Resources Provide Support and Additional Information, Timothy Syndrome Alliance, Accessed 2021 May 10.
  • Keating MT, Sanguinetti MC: Molecular and cellular mechanisms of cardiac arrhythmias. Cell 104:569–580, 2001.
  • Timothy Syndrome, National Organization for Rare Disorders, Reviewed 2019 Aug 23.

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