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The CLCN2 gene is a genetic variant that results in the production of chloride channels. These channels are involved in the regulation of chloride ions in the central nervous system. Changes in the CLCN2 gene have been linked to several diseases and conditions, including the juvenile myoclonic epilepsy and clc2-related leukoencephalopathy.

To access information about the CLCN2 gene and its related diseases, there are several resources available. One of these resources is the OMIM database, which provides scientific articles, references, and other information related to genetic testing, genomics, and the CLCN2 gene. PubMed is another valuable database that contains articles and citations with information on the CLCN2 gene.

For further reading on the CLCN2 gene and its associated diseases, additional articles can be found in scientific journals and health publications. These articles provide in-depth information on the genetics, symptoms, testing, and management of conditions related to the CLCN2 gene.

In summary, the CLCN2 gene is a vital component in the regulation of chloride ions and has been linked to several diseases and conditions. Accessing resources such as databases and scientific articles will provide the necessary information needed to understand the genetic variant and its impact on health.

The CLCN2 gene is associated with several health conditions, particularly juvenile myoclonic epilepsy and leukoencephalopathy with ataxia and myoclonus (CLAM). Genetic changes in the CLCN2 gene can result in the dysfunction of CLC-2 channels, leading to these diseases.

CLCN2-related diseases have been documented in various scientific databases, including OMIM, PubMed, and the GeneTests catalog. Articles and references related to CLCN2-related genes can be found in these resources.

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For individuals who suspect they may have a genetic change in the CLCN2 gene, genetic testing can provide additional information. The Genetic Testing Registry and GeneTests catalog can provide more information on available tests for CLCN2-related conditions.

It is important to note that while CLCN2 gene changes are associated with certain health conditions, additional research is needed to fully understand the extent of their impact and how they contribute to disease development.

References:

  • OMIM database – CLCN2 gene
  • PubMed articles on CLCN2-related diseases
  • GeneTests catalog – CLCN2-related conditions
  • Genetic Testing Registry – CLCN2 gene tests

For more information on CLCN2 and related genes, please refer to the central resources listed above.

CLCN2-related leukoencephalopathy

CLCN2-related leukoencephalopathy is a rare genetic disorder caused by mutations in the CLCN2 gene. CLCN2, also known as the chloride voltage-gated channel 2 gene, plays a crucial role in maintaining the chloride balance in cells.

This disease is characterized by various neurological symptoms, including central myoclonic epilepsy, changes in white matter of the brain, and leukoencephalopathy.

Genetic testing is available to detect variants in the CLCN2 gene, which can help confirm a diagnosis of CLCN2-related leukoencephalopathy. This testing can be done through specialized laboratories or diagnostic centers.

Additional information about CLCN2-related leukoencephalopathy, including clinical presentation, treatment options, and further details on the genetic changes associated with this disorder can be found in scientific articles, medical databases, and genetic testing resources.

Resources

  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive database of human genes and genetic disorders. CLCN2-related leukoencephalopathy is listed in the OMIM catalog.
  • PubMed – A database of scientific articles and research papers. Searching for “CLCN2-related leukoencephalopathy” will provide you with a list of relevant publications.
  • GeneReviews – Clinical summaries of genetic disorders, including information on CLCN2-related leukoencephalopathy.
  • Genetic testing laboratories and diagnostic centers – These facilities offer specialized tests for identifying variants in the CLCN2 gene. They can provide more information on the testing process and results interpretation.

It is important to consult with a healthcare professional or a genetic counselor for personalized advice and guidance based on individual circumstances.

See also  Megacystis-microcolon-intestinal hypoperistalsis syndrome

References:

  1. “CLCN2 gene.” Genetics Home Reference, U.S. National Library of Medicine, https://ghr.nlm.nih.gov/gene/CLCN2.
  2. “Leukoencephalopathy with ataxia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, https://rarediseases.info.nih.gov/diseases/355/index.
  3. “The Genetic Testing Registry (GTR).” National Center for Biotechnology Information, U.S. National Library of Medicine, https://www.ncbi.nlm.nih.gov/gtr/.

Juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is a type of epilepsy characterized by myoclonic seizures that typically present in adolescence or early adulthood. It is one of the most common types of epilepsy syndromes, accounting for approximately 5-10% of all epilepsy cases.

When investigating the genetic basis of JME, the CLCN2 gene has been found to be relevant. The CLCN2 gene encodes for a chloride channel protein, and changes or mutations in this gene can result in clcn2-related channels dysfunction, which is believed to contribute to the development of JME.

Several resources and databases provide information related to the CLCN2 gene and its association with JME:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on genes, genetic conditions, and diseases. It includes detailed information on the CLCN2 gene and its relationship to JME.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles and research papers. Searching for “CLCN2 gene” or “juvenile myoclonic epilepsy” in PubMed can provide additional scientific literature on this topic.
  • Genetic testing: Genetic testing can be conducted to identify variants or changes in the CLCN2 gene that may be associated with JME. This can help in confirming a diagnosis or assessing the risk of developing JME in other individuals.
  • CLCN2-related channels registry: The CLCN2-related channels registry is a database that specifically focuses on collecting and cataloging information about CLCN2 gene variants and their association with various conditions, including JME.

In addition to these resources, health professionals and individuals interested in learning more about JME and the CLCN2 gene can refer to published articles, references, and other sources of information for a comprehensive understanding of the condition and its genetic basis.

Overall, further research and investigation into the CLCN2 gene and its role in JME can contribute to a better understanding of this epilepsy syndrome and potentially lead to improved diagnostic tests and targeted treatments.

Other Names for This Gene

The CLCN2 gene is also known by other names in scientific literature and databases. Some of these names include:

  • CLC-2
  • CLC2
  • CLC-2 Cl(-) channel subunit
  • ClC-2 chloride channel
  • ClC-2-like chloride channel

These names are used to refer to the same gene and its related variants or changes.

For additional information on the CLCN2 gene and related conditions, the following resources can be consulted:

  • Online Mendelian Inheritance in Man (OMIM): This database provides detailed information on genetic disorders and genes, including CLCN2-related conditions.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “CLCN2 gene” or “CLC-2 gene” can yield relevant articles on the subject.
  • GeneReviews: GeneReviews is a comprehensive resource that provides information on genetic disorders, including CLCN2-related conditions. It offers clinical summaries, genetic testing information, and more.
  • Registry of Genes and Genetic Testing Laboratories: This resource lists laboratories that offer genetic testing for CLCN2-related conditions. It provides information on available tests, contact details, and more.
  • Central Nervous System Disorders, Lysosomal Storage Diseases, and Leukoencephalopathy (PubMed Health): This resource provides an overview of central nervous system disorders, lysosomal storage diseases, and leukoencephalopathy, some of which may be related to CLCN2 gene changes.

These resources can be valuable for gathering more information on the CLCN2 gene and its impact on health, as well as for accessing scientific articles, databases, and testing options related to CLCN2-related conditions.

Additional Information Resources

The CLCN2 gene encodes a protein called chloride voltage-gated channel 2 (CLC-2), which is involved in the regulation of chloride ion transport across cell membranes. Mutations in this gene can result in changes in the function of CLC-2 channels, leading to various genetic diseases.

Here are some additional resources for information on the CLCN2 gene and related diseases:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for the CLCN2 gene (OMIM #600570) includes detailed information on the gene, variants, and associated diseases.
  • PubMed: PubMed is a free database of scientific articles in the field of biomedicine. Searching for “CLCN2 gene” or specific diseases related to CLCN2 can provide you with research articles and citation information.
  • Gene Testing Registry: The Gene Testing Registry provides information on genetic tests available for specific genes and conditions. Searching for “CLCN2 gene” or related diseases can provide you with information on available tests and testing laboratories.
  • Health-related Websites: Various health-related websites may have information on CLCN2-related diseases and their symptoms. Websites like MedlinePlus and Genetics Home Reference are good starting points for general information.
  • Related Genes: CLCN2-related diseases may involve other genes and genetic changes. Exploring related genes, such as those associated with central juvenile myoclonic epilepsy or leukoencephalopathy, can provide a broader understanding of the condition.
  • Scientific Databases: There are several scientific databases, such as GenBank and Ensembl, that provide genomic information on genes and their variants. These databases can be useful for researchers and professionals working in the field.
See also  ZEB2 gene

Remember to consult reliable and updated resources for the most accurate and current information on CLCN2-related diseases. Always consult a healthcare professional for medical advice and interpretation of genetic test results.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various diseases, conditions, and health-related traits. In the GTR, you can find information on genes, tests, diseases, and other relevant resources.

For the CLCN2 gene, there are several tests listed in the GTR. These tests are focused on the CLCN2 gene and its variants, which are associated with various conditions such as juvenile myoclonic epilepsy and leukoencephalopathy.

Here are some of the tests listed in the GTR for the CLCN2 gene:

  1. Test 1: CLCN2-Related Leukoencephalopathy

    • This test detects changes in the CLCN2 gene that are associated with leukoencephalopathy.
    • For more information on this test, you can visit the OMIM entry for CLCN2-related leukoencephalopathy.

  2. Test 2: CLCN2-Related Juvenile Myoclonic Epilepsy

    • This test identifies changes in the CLCN2 gene that are linked to juvenile myoclonic epilepsy.
    • Additional articles and references on genetic testing for CLCN2-related juvenile myoclonic epilepsy can be found on PubMed.

  3. Test 3: Other CLCN2 Gene Changes

    • This test is designed to detect various changes in the CLCN2 gene that may be associated with different diseases or conditions.
    • You can find citation information for this test in scientific articles and databases.

These are just a few examples of the tests available in the GTR for the CLCN2 gene. It is important to consult with a healthcare professional or a genetic counselor for more information on specific tests and their implications for your health.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the CLCN2 gene. The CLCN2 gene, also known as the chloride voltage-gated channel 2, is listed in various databases and registries as CLC2, CLC-2, or CLCN2. This gene has been found to be related to juvenile myoclonic epilepsy, central leukoencephalopathy, and other health conditions.

PubMed provides a catalog of scientific articles from various sources, including journals and research papers. These articles include information on the CLCN2 gene and its associated genetic changes, variants, and testing methods for CLCN2-related diseases. PubMed includes articles with references to other related genes, channels, and conditions.

The OMIM database, which stands for Online Mendelian Inheritance in Man, is a useful resource for accessing additional information on CLCN2-related diseases. OMIM provides detailed information on genetic conditions, including CLCN2-related diseases, and provides citations to scientific articles and other resources.

By searching PubMed with specific keywords such as “juvenile myoclonic epilepsy CLCN2,” researchers can find articles that focus on this specific condition and its relation to the CLCN2 gene. The search results will provide a list of scientific articles that discuss the genetic changes, testing methods, and possible treatments for juvenile myoclonic epilepsy.

In addition to PubMed and OMIM, there are other databases and resources available for finding information on the CLCN2 gene and related diseases. These resources can provide further insight into the role of the CLCN2 gene in various health conditions.

CLCN2 Gene Scientific Articles
Gene Names CLC2, CLC-2, CLCN2
Related Diseases Juvenile myoclonic epilepsy, central leukoencephalopathy
Testing Methods Genetic testing, variants analysis
Other Genes CLC family genes, related ion channels
References Scientific articles, databases, registry information

It is important for researchers and healthcare professionals to stay updated with the latest scientific articles on PubMed to enhance their understanding of the CLCN2 gene and its implications in various diseases. By regularly reviewing the scientific literature, they can stay informed about recent discoveries, advancements in testing methods, and potential treatments for CLCN2-related conditions.

See also  LTBP4 gene

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information on genes and diseases. It is a valuable resource for researchers and healthcare professionals interested in clcn2-related myoclonic epilepsy and other central nervous system disorders.

OMIM lists the clcn2 gene as a key player in the development of clcn2-related myoclonic epilepsy. This genetic variant affects the function of chloride channels, leading to abnormal neuronal activity and the characteristic myoclonic seizures seen in affected individuals.

Researchers and clinicians can find a wealth of information on clcn2-related myoclonic epilepsy in the OMIM catalog, including:

  • Detailed descriptions of the gene and its function
  • References to scientific articles and other resources
  • The latest research findings and breakthroughs
  • Genetic testing options and laboratories offering testing
  • Information on related conditions and diseases
  • Registry databases for patients and families affected by clcn2-related myoclonic epilepsy

The OMIM catalog provides a comprehensive overview of clcn2-related myoclonic epilepsy and its associated genes. It is a valuable resource for healthcare professionals and researchers seeking up-to-date information on this condition. With its extensive collection of articles, references, and genetic testing information, OMIM is a go-to source for anyone interested in clcn2-related myoclonic epilepsy and related conditions.

Gene and Variant Databases

Genes play a vital role in the functioning of living organisms. They contain the information that determines the traits and characteristics of an organism. The CLCN2 gene is one such gene that has been extensively studied and researched.

The CLCN2 gene is associated with leukoencephalopathy, a group of diseases that affect the white matter of the brain. Mutations in the CLCN2 gene have been linked to various neurological conditions, ranging from epilepsy to central myoclonic juvenile-related disorders.

In order to gather information about the CLCN2 gene and its variants, gene and variant databases have been established. These databases compile and organize the vast amount of scientific knowledge on this gene and provide a valuable resource for researchers, healthcare professionals, and individuals interested in this field.

One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive database that provides information on genes, genetic conditions, and their associated phenotypes. It contains a wealth of information on the CLCN2 gene, including its function, mutation types, and associated diseases.

Another database that provides valuable resources on the CLCN2 gene is PubMed. PubMed is a widely used database for scientific articles and research papers. By searching for “CLCN2 gene” as a keyword, researchers can find a vast array of articles that discuss various aspects of this gene, its variants, and their implications on health and diseases.

In addition to these primary databases, there are also other resources available that specifically focus on CLCN2-related information. These resources include genetic testing databases, such as the GeneTests registry, which provides information on available genetic tests for CLCN2-related conditions.

These gene and variant databases not only provide valuable information on the CLCN2 gene but also offer insights into the larger field of genetics. Researchers can use these databases to explore the relationship between the CLCN2 gene and other genes, diseases, and conditions.

Overall, gene and variant databases serve as valuable tools in understanding the CLCN2 gene and its variants. They provide a centralized hub for researchers and healthcare professionals to access the latest information, conduct research, and make informed decisions in the field of genetics.

References

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  • Hautala AJ, Ahlsten K, Kivistö KT, et al. Juvenile adrenal l

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