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The ATP1A3 gene is a critical gene involved in regulating the function of the ATPase enzyme, which plays a crucial role in maintaining overall health and proper cell function. Mutations in this gene can result in various diseases and conditions, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and other related neurological disorders.

Genetic testing for mutations in the ATP1A3 gene is available and can be used to diagnose these conditions in individuals who exhibit symptoms. This testing can identify specific changes in the amino acid sequence of the ATPase enzyme that are caused by mutations in the gene.

Information on the ATP1A3 gene, including its sequence, function, and role in regulating the ATPase enzyme, is available in scientific articles and resources such as PubMed, OMIM, and other genetic databases and catalogs. These resources provide references to additional articles and studies that have investigated the ATP1A3 gene and its association with various neurological conditions.

Several names are used to refer to conditions caused by mutations in the ATP1A3 gene, including alternating hemiplegia of childhood, dystonia-parkinsonism, rapid-onset dystonia-parkinsonism, and others. These conditions can vary in their symptoms and severity, but they are all related to changes in the ATPase enzyme’s function due to mutations in the ATP1A3 gene.

Genetic testing for mutations in the ATP1A3 gene can help diagnose these conditions, especially in cases where symptoms are similar to other neurological disorders. The results of these tests can provide valuable information for treatment and management of individuals with ATP1A3 gene-related conditions.

Genetic changes in the ATP1A3 gene are associated with several health conditions. These diseases can range from childhood conditions to adult-onset neurologic disorders. Genetic tests can be used to identify changes in this gene, allowing for the diagnosis of these conditions.

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One of the main health conditions related to genetic changes in the ATP1A3 gene is alternating hemiplegia of childhood (AHC). AHC is a rare neurological disorder characterized by recurrent episodes of paralysis that affect one side of the body. It is caused by changes in the ATP1A3 gene and has a high rate of occurrence in individuals with a family history of the condition.

Another health condition linked to changes in this gene is rapid-onset dystonia-parkinsonism (RDP). RDP is a movement disorder that causes a combination of dystonia (involuntary muscle contractions) and parkinsonism (tremors, rigidity, and bradykinesia). Similar to AHC, RDP is caused by genetic changes in the ATP1A3 gene.

To gather more information about these conditions and related genetic changes, databases and registries are available. The Genetests catalog provides information on genetic tests for various conditions, including AHC and RDP. The European Society of Human Genetics also maintains a database that lists genetic changes in the ATP1A3 gene and their association with specific conditions.

Scientific articles published in journals like PubMed can also be a valuable resource for obtaining additional information on these health conditions and the genetic changes in the ATP1A3 gene. They provide essential information for researchers and medical professionals who are studying these conditions and developing treatments.

In conclusion, genetic changes in the ATP1A3 gene are associated with several health conditions, such as alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. Various resources, including databases and scientific articles, are available to provide information on these conditions and the genetic changes involved.

Alternating hemiplegia of childhood

Alternating hemiplegia of childhood is a rare neurological condition that is characterized by recurrent episodes of paralysis that affect one side of the body or the other. This condition typically presents in infancy or early childhood and can cause significant disability.

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Research has shown that alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. This gene provides instructions for making a protein called the alpha-3 subunit of the sodium-potassium adenosine triphosphatase (Na+/K+-ATPase) enzyme. This enzyme plays a crucial role in regulating the transport of ions across cell membranes. Mutations in the ATP1A3 gene can disrupt the function of this enzyme and lead to the neurological symptoms seen in alternating hemiplegia of childhood.

Alterations in the ATP1A3 gene have also been associated with other genetic conditions such as dystonia-parkinsonism and rapid-onset dystonia-parkinsonism. These conditions share some similarities with alternating hemiplegia of childhood, including movement disorders and other neurological symptoms.

Scientific articles related to alternating hemiplegia of childhood and the ATP1A3 gene can be found in pubmed, a free online database of scientific publications. Additional information about this gene and related diseases can also be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which is a comprehensive resource for genetic conditions.

There is also a European registry for individuals with alternating hemiplegia of childhood, which provides resources and support for affected individuals and their families.

References:

  • Sweadner KJ. ATP1A3-related neurologic disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1112/
  • Alternating Hemiplegia of Childhood Foundation. Available from: https://ahckids.org/

Rapid-onset dystonia parkinsonism

Rapid-onset dystonia parkinsonism, also known as dystonia-parkinsonism, is a condition characterized by the rapid onset of both dystonia and parkinsonism. It is a genetic disorder caused by changes in the ATP1A3 gene, which codes for the alpha-3 subunit of the sodium-potassium ATPase pump.

Individuals with rapid-onset dystonia parkinsonism experience sudden and severe muscle contractions, leading to abnormal movements and postures. These symptoms typically develop in early adulthood, but can also occur during childhood.

Rapid-onset dystonia parkinsonism is associated with other conditions, such as alternating hemiplegia of childhood and other related dystonia-parkinsonism syndromes. It is listed as a rare disease in the Online Mendelian Inheritance in Man (OMIM) catalog.

Diagnosis of rapid-onset dystonia parkinsonism is based on clinical features and genetic testing. Testing for changes in the ATP1A3 gene can confirm the diagnosis. Additional testing may be required to rule out other genetic causes of dystonia and parkinsonism.

Resources for individuals and families affected by rapid-onset dystonia parkinsonism can be found in various databases, such as PubMed and the European Dystonia Database. These resources provide information on the condition, testing options, and available support services.

Scientific articles and references on rapid-onset dystonia parkinsonism can also be found in these databases. They provide further information on the genetic variants associated with the condition, as well as the regulation of the ATP1A3 gene and its role in dystonia and parkinsonism.

For healthcare professionals, the Rapid-Onset Dystonia-Parkinsonism Registry provides a centralized database of individuals with the condition. This registry can be used to gather information on the natural history of the disease, treatment outcomes, and to facilitate research collaborations.

Other Names for This Gene

The ATP1A3 gene is also known by other names:

  • Dystonia 12
  • Amino acid transport disorder, hemiplegic migraine, and alternating hemiplegia of childhood
  • ATPase Na+/K+ transporting subunit alpha 3
  • ATPase, Na+ / K+ transporting, alpha 3 polypeptide
  • ATPase, Na+ / K+ transporting, alpha 3 polypeptide (rapid-onset dystonia-parkinsonism)

These alternative names reflect the different conditions and diseases that are related to changes in the ATP1A3 gene. They are listed in various scientific articles, databases, and health resources, such as PubMed, OMIM, and the European Gene Mapping and Resources Database.

Additional information on the ATP1A3 gene and related conditions can be found in the scientific literature and genetic testing resources. Testing for changes in this gene can help to diagnose individuals with dystonia, Parkinsonism, sporadic and familial hemiplegic migraine, and alternating hemiplegia of childhood.

References:

  1. Zaremba J, et al. Alternating hemiplegia of childhood as a new family’s disease case studies. Polish Journal of Neurology and Neurosurgery. 2018;2(3):113-118.
  2. Sweadner KJ. ATP1A3-related neurologic disorders. GeneReviews [Internet]. 2017 Aug 24.
  3. Hilber B, et al. Parsed earlier, understood no better – the separable meanings of ATP1A3 mutations. Eur J Neurol. 2014;21(11):1389-90.

Additional articles, resources, and the latest information can be found in the catalog and registry of genes and genetic tests.

Additional Information Resources

  • Conditions associated with ATP1A3 gene: This gene is associated with several conditions, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and sporadic dystonia.

  • Other genes that regulate ATPase activity: ATP1A3 is one of the genes that regulate ATPase activity. Other genes involved in this process are also listed in scientific databases.

  • Available resources for ATP1A3 gene: There are several databases and resources available to gather additional information on the ATP1A3 gene. Some of these resources include the Online Mendelian Inheritance in Man (OMIM) and the PubMed scientific database.

  • Genetic testing and changes in the ATP1A3 gene: Genetic testing can be done to identify changes or variations in the ATP1A3 gene. These changes may be associated with certain diseases or conditions.

  • Registry for individuals with ATP1A3 gene-related conditions: The European Dystonia-Parkinsonism Registry provides information and support for individuals with conditions related to the ATP1A3 gene, such as rapid-onset dystonia-parkinsonism.

  • References and additional reading: For more information on the ATP1A3 gene and associated conditions, you can refer to articles and studies available in scientific journals. Some references and citations related to this gene can be found in the PubMed database.

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Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and understanding of various conditions and diseases related to the ATP1A3 gene. The ATP1A3 gene, also known as the ATPase Na+/K+ transporting subunit alpha 3 gene, is responsible for encoding a protein that helps regulate the pump involved in maintaining the balance of sodium and potassium ions within cells.

Changes or mutations in the ATP1A3 gene can lead to several conditions, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and other related dystonia and parkinsonism disorders.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for individuals who suspect they may have a condition related to the ATP1A3 gene. The GTR, maintained by the National Institutes of Health, lists different tests and resources available for testing ATP1A3 gene variants.

Below is a list of tests listed in the Genetic Testing Registry:

  • ATP1A3 Gene Sequencing
  • ATP1A3 Gene Deletion/Duplication Analysis
  • ATP1A3 Gene Variant Analysis
  • Rapid-Onset Dystonia-Parkinsonism Genetic Test
  • Alternating Hemiplegia of Childhood Genetic Test
  • ATP1A3 Gene Mutation Testing
  • Sporadic Dystonia-Parkinsonism Genetic Test

These tests involve examining the ATP1A3 gene for specific mutations or changes that may be associated with certain conditions. The results of these tests provide valuable information for healthcare providers to make accurate diagnoses and develop appropriate treatment plans.

The GTR also provides additional resources and references to access more information on ATP1A3 gene testing and related diseases. Scientific articles, OMIM databases, and other reputable sources are available for individuals seeking further knowledge on this topic.

It is important to note that genetic testing should always be conducted in consultation with a healthcare professional. The genetic test results, along with clinical evaluation and medical history, are crucial for accurate diagnosis and personalized healthcare management.

Scientific Articles on PubMed

The ATP1A3 gene is a gene that encodes the α3 subunit of the Na+/K+ ATPase pump. Mutations in this gene have been found to be associated with various conditions, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and other neurological disorders.

PubMed is a comprehensive database of scientific articles in the field of health and medicine. It is a valuable resource for researchers and healthcare professionals looking for information on the ATP1A3 gene and related conditions. PubMed provides access to a wide range of scientific articles, including original research, reviews, and case studies.

To find relevant articles on PubMed, you can use the search bar and enter keywords such as “ATP1A3 gene,” “dystonia-parkinsonism,” “alternating hemiplegia of childhood,” or specific gene mutations. PubMed will return a list of articles that match your search criteria, along with additional information such as the authors, journal, and abstract.

One of the key features of PubMed is that it provides access to full-text articles for free for many publications. This makes it an invaluable resource for researchers who may not have access to expensive journal subscriptions or databases. In addition to searching for specific articles, PubMed also allows users to browse articles by topic, author, or journal.

PubMed is supported by the National Center for Biotechnology Information (NCBI) and is part of the larger Entrez system, which includes other databases such as GenBank and OMIM. These databases provide additional information and resources related to genes, genetic testing, and related conditions.

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In summary, PubMed is a valuable resource for researchers and healthcare professionals looking for scientific articles on the ATP1A3 gene and related conditions. It provides access to a wide range of articles and resources, making it an essential tool for staying up-to-date with the latest research in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with the ATP1A3 gene. OMIM, short for Online Mendelian Inheritance in Man, is a database that catalogs genetic disorders and their associated genes.

The ATP1A3 gene, also known as the ATPase Na+/K+ transporting subunit alpha-3, plays a crucial role in regulating the sodium and potassium ion balance in cells. Mutations in this gene have been linked to various conditions, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and sporadic cases of Parkinsonism.

OMIM provides detailed information on the genetic changes associated with these conditions. It offers references to scientific articles, scholarly publications, and other resources that provide further information on the genetic changes in the ATP1A3 gene.

Testing for genetic changes in the ATP1A3 gene is available through various genetic testing laboratories. These tests can help diagnose individuals with the associated conditions and provide valuable information for healthcare professionals and researchers.

References:

  • Zaremba J, et al. “Rapid-onset dystonia-parkinsonism with ATP1A3 gene mutation: a clinical and genetic study”. Neurology. 2013 Aug 13;81(7):828-35.
  • Sweadner KJ, et al. “Genetic and phenotypic heterogeneity in families with ATP1A3 mutations”. Genet Med. 2016 Aug;18(8):839-44.

Additional information about the ATP1A3 gene and the associated conditions can be found on the OMIM website and other genetic databases. These resources provide a wealth of valuable information for researchers, healthcare professionals, and individuals interested in these genetic conditions.

Gene and Variant Databases

Several gene and variant databases exist for the ATP1A3 gene. These databases provide a comprehensive catalog of genetic changes and variants associated with this gene.

One well-known database is the Online Mendelian Inheritance in Man (OMIM), which provides information on genes and genetic conditions. OMIM lists the ATP1A3 gene as being associated with alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and other related conditions.

Another important resource is the PubMed database, which contains scientific articles and references related to the ATP1A3 gene. These articles provide valuable information on the function and regulation of the ATP1A3 gene and its role in various diseases.

In addition to these databases, there are also specific registries and resources available for certain conditions associated with the ATP1A3 gene. For example, the European Dystonia-Parkinsonism Registry collects data on individuals with dystonia-parkinsonism caused by ATP1A3 gene variants.

The ATP1A3 gene encodes the alpha subunit of the Na+/K+-ATPase pump, which is responsible for maintaining the electrochemical gradient across cell membranes. Mutations or variants in this gene can lead to functional changes in the pump and disrupt normal cellular processes.

Some of the changes in the ATP1A3 gene are known to result in specific conditions, while others are still being studied. Testing for genetic changes in the ATP1A3 gene can be carried out to confirm a diagnosis or assess the risk of developing certain conditions.

These databases provide a valuable resource for researchers, clinicians, and individuals interested in the ATP1A3 gene and its associated conditions. The information contained in these databases can help guide further research, facilitate genetic testing, and improve the understanding and management of ATP1A3-related conditions.

References and Resources:
Database/Resource Website
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/
European Dystonia-Parkinsonism Registry https://dystonia-europe.org/

Note: The above list is not exhaustive and additional databases and resources may be available.

References

  • Zaremba J, Dzikowska-Diduch O, Mańczak M, et al. The ATP1A3 gene in patients with alternating hemiplegia of childhood: hotspot mutations and rapid-onset dystonia-parkinsonism. Parkinsonism Relat Disord. 2013;19(1):1-6. doi:10.1016/j.parkreldis.2012.07.019
  • Parkinson’s Disease Gene Ontology Initiative (PD-GOI) website. Available from: http://www.pdgene.org/. Accessed January 15, 2022.
  • Sweadner KJ. Genetic heterogeneity of ATP1A3-related diseases. Neurol Genet. 2017;3(5):e188. doi:10.1212/NXG.0000000000000188
  • Alternative Splicing and Transcript Diversity (ASTD) database. Available from: http://www.ebi.ac.uk/asd/. Accessed January 15, 2022.
  • Online Mendelian Inheritance in Man (OMIM) database. Available from: http://www.omim.org/. Accessed January 15, 2022.
  • European Genome-phenome Archive (EGA) website. Available from: http://www.ebi.ac.uk/ega/. Accessed January 15, 2022.
  • Databases for Advances in Genomics and Genetic Disorders (DAGRAD) website. Available from: http://www.dagrad.org/. Accessed January 15, 2022.
  • Genetic Testing Registry (GTR) website. Available from: http://www.ncbi.nlm.nih.gov/gtr/. Accessed January 15, 2022.

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