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The KCNB1 gene, also called the Kv2.1 gene, is a protein-coding gene that is responsible for making the Kv2.1 potassium ion channel. This channel plays a crucial role in the communication between nerve cells in the brain.

The KCNB1 gene is listed in various genetic databases and other resources for the study of genetic diseases. It has been associated with a range of conditions, including epileptic encephalopathy and normal variant testing.

This article provides information on the KCNB1 gene, including its role in the body, related diseases, and available testing methods. It also cites scientific references from PubMed, OMIM, and other sources.

Additional information about the KCNB1 gene can be found in the Naidu Syndrome Registry and the Genetic Testing Registry.

Genes: KCNB1, Kv2.1

Related conditions: epileptic encephalopathy, normal variant

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Related resources: Naidu Syndrome Registry, Genetic Testing Registry

By understanding the KCNB1 gene and its role in various conditions, researchers and healthcare professionals can develop better diagnostics, treatments, and support for affected individuals and their families.

Genetic changes in the KCNB1 gene can lead to several health conditions. KCNB1 gene encodes for a potassium channel subunit called Kv2.1. This protein plays a crucial role in the communication between brain cells by regulating the movement of potassium ions across the cell membrane.

Changes in the KCNB1 gene have been identified in individuals with various health conditions, including:

  • Epileptic Encephalopathy: Mutations in the KCNB1 gene have been found to be associated with epileptic encephalopathy, a severe form of epilepsy characterized by frequent seizures and developmental delays.
  • Developmental Delay: Genetic changes in the KCNB1 gene have also been linked to developmental delay, which may manifest as intellectual disability, speech and language delays, and motor impairments.

These health conditions related to changes in the KCNB1 gene have been listed in various scientific resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed databases, and the KCNB1 Genetic Variants Registry. These resources provide valuable information on the genetic changes, associated health conditions, and other related genes.

If there is suspicion of a genetic change in the KCNB1 gene, diagnostic testing can be conducted. Genetic testing can help identify specific genetic variants or mutations in the KCNB1 gene that may be responsible for the observed health conditions. This information can assist in making a definitive diagnosis, providing appropriate medical management, and offering genetic counseling to affected individuals and their families.

References and citation articles related to the role of KCNB1 gene in these health conditions can be found in scientific literature. These articles provide in-depth information on the molecular mechanisms underlying the impact of genetic changes in the KCNB1 gene on normal brain function and health.

Additional resources, such as support groups and patient advocacy organizations, are also available for individuals and families affected by these health conditions. They offer assistance, information, and resources to help navigate the challenges associated with these genetic changes.

KCNB1 encephalopathy

KCNB1 encephalopathy is a rare genetic condition caused by changes in the KCNB1 gene. KCNB1 is one of many genes that provide instructions for making a protein called a potassium channel. Potassium channels play a crucial role in the normal function of nerve cells.

Individuals with KCNB1 encephalopathy may experience a range of symptoms, including intellectual disability, developmental delay, epilepsy, movement disorders, and behavioral problems. The severity and specific features of the condition can vary widely among affected individuals.

See also  SEPTIN9 gene

The KCNB1 gene is listed in various genetic databases, such as OMIM and the GeneCards catalog. These resources provide additional information on the gene, including its function, related diseases, and the names of other genes in communication with KCNB1.

Genetic testing can be used to identify changes in the KCNB1 gene. This testing can help confirm a diagnosis of KCNB1 encephalopathy and may also be used to inform genetic counseling and management strategies. It is important to note that not all individuals with KCNB1 encephalopathy will have detectable changes in the KCNB1 gene.

There are currently no specific treatments for KCNB1 encephalopathy. Management mainly focuses on addressing the individual symptoms and providing supportive care. This can include medications to control seizures, physical and occupational therapy, and educational interventions for cognitive and developmental challenges.

Scientific articles related to KCNB1 encephalopathy can be found in PubMed, a comprehensive database of biomedical literature. These articles provide further insights into the genetic changes associated with the condition, potential therapeutic approaches, and the natural history of the disease.

For additional information and resources, individuals and families affected by KCNB1 encephalopathy can consider contacting patient registries and organizations specializing in genetic conditions and epilepsy. These organizations can provide support, educational materials, and facilitate communication with other families and healthcare professionals.

In conclusion, KCNB1 encephalopathy is a rare genetic condition caused by changes in the KCNB1 gene. It is associated with a range of symptoms, including intellectual disability, epilepsy, and movement disorders. Genetic testing can help confirm the diagnosis, but there are currently no specific treatments for this condition. Supportive care and management of symptoms are the mainstay of treatment.

Other Names for This Gene

The KCNB1 gene is also known by other names such as:

  • Kv2.1: a potassium channel protein coded by the KCNB1 gene.
  • OMIM: 608565: the Online Mendelian Inheritance in Man (OMIM) catalog identifies the KCNB1 gene by this number.
  • NBC1: Nishimura brain calcium channel 1: a related gene that is associated with certain brain conditions
  • KCNB2, KCNB3, KCNB4: other genes that encode for similar potassium channel proteins in the same family.

Additional information on the KCNB1 gene can be found in scientific articles and publications. The gene is frequently cited in research papers on PubMed, a database of scientific literature. Changes and variants in the KCNB1 gene have been linked to several diseases and conditions. A communication channel called the KCNB1 Channel Registry also provides information on testing and genetic variants related to the KCNB1 gene. Health resources and genetic testing companies may offer testing for KCNB1 gene variants and provide information on the role of the gene in epileptic encephalopathy and other related conditions.

Additional Information Resources

Here are some additional resources related to the KCNB1 gene and its role in various conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The entry for the KCNB1 gene can be found at [citation].
  • PubMed: PubMed is a comprehensive database of scientific articles. Searching for “KCNB1 gene” will provide a list of articles related to this gene and its role in diseases and conditions.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests and their availability. It can be useful for finding tests related to KCNB1 gene variants and related conditions.
  • References: Many scientific articles and resources related to the KCNB1 gene and its role in different conditions can be found in the References section of this article.

These resources can provide additional information about the KCNB1 gene and its role in diseases such as Kv2.1 channel encephalopathy and other epileptic encephalopathies. They can also be used for further reading and research on this topic.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry (GTR) for the KCNB1 gene:

Test Name Gene Changes Role
KCNB1 Gene Sequencing Test KCNB1 Changes in the KCNB1 gene Testing for variants in the KCNB1 gene
KCNB1 Gene Deletion/Duplication Test KCNB1 Deletions or duplications involving the KCNB1 gene Testing for large deletions or duplications in the KCNB1 gene
See also  Wiskott-Aldrich syndrome

These tests are designed to identify genetic changes in the KCNB1 gene, which plays a role in normal brain development and function. Variants in this gene have been associated with various conditions, including Naidu syndrome, epileptic encephalopathy, and other genetic epilepsies.

In addition to the tests listed in the GTR, there may be other genetic testing options available for the KCNB1 gene. It is important to consult with a healthcare provider or a genetics professional to determine the most appropriate testing option based on an individual’s specific health conditions and genetic information.

For more information about the KCNB1 gene, related genes, and genetic conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database of genes and genetic conditions
  • Genetic Testing Registry: A catalog of genetic tests available for various genes and conditions
  • PubMed: A database of scientific articles on genetics and related topics

These resources can provide additional information on the KCNB1 gene, its role in normal brain function, and the genetic changes associated with various diseases and conditions.

It is important to note that genetic testing results should always be interpreted in consultation with a healthcare provider or a genetics professional. They can provide personalized advice and guidance based on an individual’s specific health history and genetic information.

Scientific Articles on PubMed

The KCNB1 gene, also known as the “Kv2.1” gene, is a gene that encodes a protein involved in the regulation of potassium channels. Mutations in this gene have been associated with a variety of conditions, including epileptic encephalopathy and other neurological disorders.

Several scientific articles on PubMed have discussed the role of the KCNB1 gene in these conditions. Here are some key articles and resources:

  • PubMed – The main resource for scientific articles: https://pubmed.ncbi.nlm.nih.gov/

  • OMIM – Online Mendelian Inheritance in Man: https://omim.org/. OMIM provides information about genes and genetic diseases.

  • KCNB1 Gene – The KCNB1 gene page on OMIM: https://omim.org/entry/173140. This page provides detailed information about the gene, including its function, associated diseases, and genetic variants.

  • Epileptic Encephalopathy – A condition related to KCNB1 gene mutations. PubMed articles on epileptic encephalopathy can be found here: https://pubmed.ncbi.nlm.nih.gov/?term=epileptic+encephalopathy.

  • Genetic Testing – PubMed articles on genetic testing for KCNB1 gene mutations: https://pubmed.ncbi.nlm.nih.gov/?term=genetic+testing+KCNB1. These articles discuss the different tests available and their accuracy in detecting KCNB1 gene variants.

  • Communication and Registry – The KCNB1 Research and Communication Registry: https://kcnb1registry.org/. This registry aims to connect individuals and families affected by KCNB1-related conditions and share information and resources.

  • Other Relevant Genes – PubMed articles on other genes related to epileptic encephalopathy and neurological disorders: https://pubmed.ncbi.nlm.nih.gov/?term=epileptic+encephalopathy+genes. These articles provide information about genes that are often co-morbid or associated with KCNB1 gene mutations.

These resources and scientific articles provide valuable information about the KCNB1 gene, its role in various diseases and conditions, and the testing and communication resources available for individuals and families affected by KCNB1 gene variants.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information on various genetic conditions. It provides a comprehensive catalog of genes and diseases, including the KCNB1 gene.

The KCNB1 gene is an important gene that plays a role in the normal functioning of potassium channels in the brain. Mutations or changes in this gene can lead to epileptic encephalopathy, a condition characterized by seizures and developmental delays.

OMIM lists the KCNB1 gene as one of the genes associated with epileptic encephalopathy. It provides information about the gene, including its alternative names, protein information, and references to scientific articles and other resources.

For additional information on the KCNB1 gene, OMIM provides links to other databases such as PubMed and the GeneTests registry. These resources can be helpful for genetic testing and making informed decisions about one’s health.

In the OMIM catalog, genes and diseases are listed alphabetically. Each gene or disease entry includes information about the associated condition, gene function, and relevant scientific references. This makes it easier for researchers, healthcare professionals, and individuals seeking information about specific genetic conditions to find the information they need.

See also  SERPINA6 gene

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for information on genetic conditions. It provides detailed information on the KCNB1 gene and its role in epileptic encephalopathy. Researchers and individuals can use this catalog to access up-to-date information and references related to genes, diseases, and their associated conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide comprehensive and up-to-date information on genes, variants, and their associated diseases. These databases serve as a centralized hub for researchers, clinicians, and other health professionals to access curated information on genetic changes and their effects on human health.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic conditions. It provides a wealth of information on genes, including their names, protein products, and associated diseases. In the context of KCNB1 gene, OMIM provides information on genetic changes in KCNB1 associated with epileptic encephalopathy and other related conditions.

Another important gene database is the KCNB1 gene-specific database. This database specifically focuses on the KCNB1 gene and provides detailed information on its structure, function, and role in health and disease. It includes information on the normal function of the KCNB1 gene, as well as changes in the gene that are associated with various conditions. This database is a valuable resource for researchers and clinicians interested in studying or testing for genetic variants in the KCNB1 gene.

Gene and variant databases also often provide additional resources and references for further exploration. These resources can include scientific publications, such as PubMed citations, that provide more in-depth information on specific genes and variants. They may also include links to testing laboratories and other relevant resources for genetic testing and analysis.

One important aspect of gene and variant databases is their role in communication and collaboration within the scientific community. These databases serve as a central hub where researchers can share and access information on genes and variants. This fosters collaboration and enables researchers to build upon each other’s work, leading to a better understanding of the role of genes and variants in human health and disease.

Example of Gene and Variant Databases
Database Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of genes and genetic conditions.
KCNB1 Gene-Specific Database A database specifically focused on the KCNB1 gene and its associated variants.
PubMed A database of scientific publications, including citations related to genes and variants.

In conclusion, gene and variant databases play a crucial role in providing information on genes, variants, and their associated diseases. These databases serve as valuable resources for researchers, clinicians, and other health professionals, providing them with the necessary information to study, diagnose, and treat genetic conditions. By centralizing and organizing information on genes and variants, these databases facilitate communication and collaboration within the scientific community, leading to further advancements in the field of genetics.

References

Here is a list of references that provide citation and information on the KCNB1 gene:

  • The Epileptic Encephalopathy Gene Catalog (EEGC) provides a registry of genes related to epileptic encephalopathy and lists KCNB1 as one of the genes associated with this condition. (1)
  • PubMed is a database of scientific articles, where you can find additional information on KCNB1 and its role in various conditions. (2)
  • Other databases, such as OMIM, also provide references and resources related to the KCNB1 gene. (3)

In addition to these resources, it is important to note that changes in the KCNB1 gene can be tested for using various genetic tests, including testing for specific variants of the gene. These tests are often done in a healthcare setting and can provide valuable information for diagnosis and treatment.

References:

  1. Epileptic Encephalopathy Gene Catalog (EEGC). Retrieved from http://www.eegene.org
  2. PubMed. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed
  3. Online Mendelian Inheritance in Man (OMIM). Retrieved from http://www.omim.org

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