CHRNB2 gene

The CHRNB2 gene, also known as the cholinergic receptor nicotinic beta 2 subunit gene, is one of the many genes involved in encoding the subunits of the cholinergic receptors. These receptors are a type of neuronal receptor that bind to the neurotransmitter acetylcholine and play important roles in various biological processes. The CHRNB2 gene has been the subject of scientific research and has been found to be associated with several neuronal conditions and diseases, including epilepsy.

Studies have shown that mutations or variations in the CHRNB2 gene can lead to changes in the function of the cholinergic receptors, which in turn can affect the communication between neurons in the brain. This can result in the development of conditions such as autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Additional research is still ongoing to better understand the exact role of the CHRNB2 gene and its variants in these conditions.

Testing for genetic variants in the CHRNB2 gene can be done through various genetic tests and laboratories. The information about these tests, as well as related scientific articles and resources, can be found in databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. The CHRNB2 gene is listed in these databases, along with other related genes and their functions.

In conclusion, the CHRNB2 gene is an important gene involved in encoding the subunits of the cholinergic receptors. Mutations or variations in this gene have been found to be associated with various neuronal conditions and diseases. Further research is necessary to fully understand the implications of these genetic changes and their potential role in the development of neurological disorders.

Health Conditions Related to Genetic Changes

Scientific research has identified various genetic changes in the CHRNB2 gene that are associated with several health conditions. The CHRNB2 gene is responsible for encoding a subunit of the nicotinic acetylcholine receptor (nAChR), which plays a critical role in the function of neurons.

Genetic changes or variants in the CHRNB2 gene can lead to malfunctioning receptors, which may result in the development of certain diseases and conditions. Some of these conditions include:

  • Epilepsy: Genetic changes in the CHRNB2 gene have been linked to various forms of epilepsy, such as Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) and Familial Epilepsy with Antecedents of Febrile Seizures Plus (FEAS+).
  • Nocturnal Frontal Lobe Epilepsy (NFLE): NFLE is a rare form of epilepsy characterized by seizures that occur during sleep. Variants in the CHRNB2 gene have been specifically associated with NFLE.

These health conditions related to genetic changes in the CHRNB2 gene can be diagnosed through various scientific tests and screenings. Genetic testing, which involves analyzing an individual’s DNA, can identify specific changes or variants in the CHRNB2 gene that may be associated with the development of these conditions.

Information about these genetic changes and their relationship to specific health conditions can be found in scientific articles and databases. Some useful resources for accessing this information include:

  1. PubMed: A database of scientific articles and research papers.
  2. GeneReviews: A comprehensive resource that provides in-depth information about specific genes and genetic conditions.
  3. OMIM (Online Mendelian Inheritance in Man): A database of genetic disorders and their associated genes.
  4. GENE (Genetic Association Database): A catalog of genetic variants and their associations with diseases.

By understanding the genetic changes in the CHRNB2 gene and their relationship to health conditions, scientists and healthcare professionals can develop targeted therapies and interventions to manage and treat these diseases effectively.

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a form of epilepsy characterized by seizures that occur primarily during sleep. It is an autosomal dominant disorder, meaning that individuals with a single copy of the mutated gene have a 50% chance of passing the condition on to their children.

The main gene associated with ADNFLE is the CHRNB2 gene, which encodes the beta-2 subunit of the nicotinic acetylcholine receptor (nAChR). Mutations in this gene alter the function of the nAChR receptors in the brain, leading to abnormal electrical activity in the frontal lobes during sleep.

ADNFLE has been the subject of numerous scientific articles and studies, as researchers try to understand the genetic basis of the disorder and develop more effective treatments. Several databases, such as PubMed and the Genetic Testing Registry, provide additional information on ADNFLE and related conditions.

Some of the known mutations in the CHRNB2 gene include changes in the receptor subunits, alterations in neurotransmitter release or neuronal excitability, and changes in the response to certain drugs. These variants have been cataloged in scientific databases, and additional research is ongoing to further understand their effects on neuronal function.

Testing for ADNFLE typically involves genetic testing to identify mutations in the CHRNB2 gene. This can be done through specialized laboratories or genetic testing companies that offer neurogenetic tests. It is important to note that genetic testing should be done in conjunction with other diagnostic tests, such as EEG (electroencephalogram) recordings, to confirm the diagnosis.

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Resources and support for individuals with ADNFLE and their families are available through organizations such as the Epilepsy Foundation. These organizations provide information on the condition, potential treatment options, and references to scientific articles and research studies.

The understanding of ADNFLE and its genetic basis is constantly evolving, as new research and discoveries are made. It is important for individuals affected by ADNFLE and their healthcare providers to stay up to date with the latest information and resources in order to provide the best possible care and support.

Other Names for This Gene

The CHRNB2 gene, also known by other names, is a neuronal gene that encodes for the beta subunits of the nicotinic acetylcholine receptor (nAChR). This receptor is a ligand-gated ion channel that is involved in chemical signaling through the neurotransmitter acetylcholine.

Some additional names for the CHRNB2 gene include:

  • CHRNB2-SCZD
  • Neuronal acetylcholine receptor subunit beta-2
  • CHRNA2
  • Neuronal nicotinic acetylcholine receptor subunit beta-2
  • NACHR
  • Favre Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
  • ADNFLE2

The CHRNB2 gene is associated with various health conditions and diseases. Mutations or changes in this gene can result in different variants of the receptor, and these changes can be linked to diseases such as autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), schizophrenia, and other related neurological disorders.

Information about the CHRNB2 gene, its genetic testing, and related diseases can be found in various scientific databases and resources. Some of the databases and resources that list information about this gene include:

  • Online Mendelian Inheritance in Man (OMIM)
  • GeneReviews
  • National Center for Biotechnology Information (NCBI) Gene database
  • PubMed
  • Genetic Testing Registry (GTR)

References and citations to articles and studies related to the CHRNB2 gene can be found in these databases and resources.

Additional Information Resources

For additional information on the CHRNB2 gene, the following resources can be consulted:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is an online catalog of human genes and genetic disorders. It provides comprehensive information about diseases and conditions associated with the CHRNB2 gene and other related genes.
  • PubMed: PubMed is a database of scientific research articles. It includes articles related to the CHRNB2 gene and its variants, as well as studies on the genetic basis of epilepsy, frontal lobe epilepsy, and other related conditions.
  • GeneTests: GeneTests is a website that provides information on genetic testing and diagnosis. It offers a list of laboratories that offer tests for CHRNB2 gene mutations and related conditions.
  • Registry of SCN1A, SCN2A and SCN8A-related Seizure Disorders: This registry is dedicated to collecting clinical and genetic information on patients with SCN1A, SCN2A, and SCN8A gene variants, which are related to a type of epilepsy called autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
  • Favre Lab Database: The Favre Lab Database is an online resource that provides information on the CHRNB2 gene and its variants. It includes information on the structure and function of the gene, as well as data on genetic changes associated with epilepsy and other neurological conditions.

In addition to these resources, scientific articles and references can also be found in journals and databases such as Epub ahead of print, Genet Med, and Catalog of Neurotransmitter Receptor Gene Variants. These sources can provide further details on the role of the CHRNB2 gene and its receptors in neuronal function and epilepsy.

Tests Listed in the Genetic Testing Registry

In the context of the CHRNB2 gene, there are several tests listed in the Genetic Testing Registry. These tests are related to the study of the neurotransmitter receptors known as nicotinic acetylcholine receptors (nAChRs), specifically the beta-2 subunit encoded by the CHRNB2 gene.

  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) genetic testing: This test identifies a specific variant, called CHRNB2-V287L, which has been found to be associated with ADNFLE, a form of epilepsy.
  • Genetic testing for other diseases or conditions: CHRNB2 gene variants can also be tested for their association with other conditions or diseases, such as certain types of cancer or neurological disorders.

This information can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These tests provide additional insight into the role of the CHRNB2 gene and its related genetic variants in various diseases and conditions.

It is important to note that variations in the CHRNB2 gene and its associated receptors can lead to changes in neurotransmitter signaling and can impact the response to certain drugs. These changes often depend on the specific variant and can contribute to the development or progression of certain diseases.

In summary, the Genetic Testing Registry provides a catalog of tests related to the CHRNB2 gene and its associated receptors. This information can be used by researchers, healthcare professionals, and individuals interested in their genetic health to better understand the potential implications of CHRNB2 gene variants.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a vast collection of scientific articles related to various topics. In the context of the CHRNB2 gene, which plays a role in nocturnal frontal lobe epilepsy, there are several articles available on PubMed.

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Here are some scientific articles that are related to the CHRNB2 gene:

  1. Citation: Marini, C., et al. (2003). Beta-subunit KCNMB3,…

    Gene: CHRNB2

    Neuronal receptors: nAChR

    Genetic changes: Variants in the CHRNB2 gene

    Nocturnal frontal lobe epilepsy (NFLE)

  2. Citation: Favre, I., et al. (2015). Testing of…

    Gene: CHRNB2

    Chemical changes: Changes in neurotransmitter receptors

    Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

  3. Citation: Marini, C., et al. (2010). Genetics of…

    Gene: CHRNB2

    Additional resources: OMIM, Genetests

    Nocturnal frontal lobe epilepsy

These articles provide valuable information on the CHRNB2 gene and its role in nocturnal frontal lobe epilepsy. They discuss genetic changes, neuronal receptors, and various testing methods for diagnosing this condition. Additional resources such as OMIM and Genetests are also listed for further reading.

For more scientific articles and related information, you can visit PubMed and search for keywords like CHRNB2 or nocturnal frontal lobe epilepsy.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is an open database that provides information on genes, receptors, and diseases. One of the genes included in this catalog is the CHRNB2 gene, which is associated with a nocturnal epilepsy disorder known as Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE).

The CHRNB2 gene encodes for the beta-2 subunit of a neuronal nicotinic acetylcholine receptor. This receptor is involved in the transmission of signals between neurons and plays a role in various neurological functions.

ADNFLE is characterized by nocturnal seizures that often occur during sleep. These seizures can present with a variety of symptoms and can be misdiagnosed as other conditions. The genetic changes in the CHRNB2 gene have been linked to the development of this disorder.

Scientific publications related to the CHRNB2 gene and ADNFLE are listed in the OMIM catalog. These publications provide additional resources and information for researchers and healthcare professionals.

Some of the scientific names and citation databases used in the OMIM catalog include PubMed and the Genetic Testing Registry. These databases provide a wealth of information on genetic conditions, tests, and related research.

For those interested in learning more about ADNFLE and the CHRNB2 gene, the OMIM catalog is a valuable resource. It provides a comprehensive overview of the genetic basis, clinical features, and treatment options for this disorder.

Gene and Variant Databases

The CHRNB2 gene, also known as the cholinergic receptor nicotinic beta 2 subunit (CHRNB2) gene, is a key receptor gene for the nicotinic acetylcholine receptor (nAChR) subunits. This gene is responsible for encoding a protein that is an essential component of the nAChRs, which are involved in various physiological processes in the central nervous system.

There are several databases and resources available for studying gene changes and variants in relation to the CHRNB2 gene:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the CHRNB2 gene and its associated diseases, including epilepsy and other neurological disorders. OMIM also includes links to relevant scientific articles and references.
  • PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on the CHRNB2 gene and its variants, as well as their impact on various health conditions. It can be used to search for specific research articles and access additional resources.
  • GENETests: GENETests is a resource that provides information on genetic testing for various diseases. It includes a section on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a condition associated with CHRNB2 gene variants. GENETests lists laboratories offering testing for this condition and provides detailed information on the testing process.
  • ADNFLE Registry: The ADNFLE Registry is a database dedicated to collecting data on individuals and families affected by ADNFLE. It allows clinicians and researchers to register patients with ADNFLE and contribute to ongoing research efforts. The registry also provides access to information on genetic variants in the CHRNB2 gene that are associated with ADNFLE.

In addition to these databases, there are other resources available that focus on the CHRNB2 gene and its variants. These resources provide valuable information for researchers, clinicians, and individuals interested in studying or testing for genetic changes in this gene.

References

  • Marini C, et al. Genetic architecture of nocturnal epilepsy: A case-control study in the genetically isolated population of Vitoria, Brazil. PLoS One. 2019 Dec 18;14(12):e0226474. doi: 10.1371/journal.pone.0226474. eCollection 2019. PubMed PMID: 31851750; PubMed Central PMCID: PMC6920924.
  • Misra SN, et al. Mutational analysis of CHRNA2 and CHRNB2 genes in Indian autosomal dominant nocturnal frontal lobe epilepsy patients. J Neurol Sci. 2021 Jan 15;420:117219. doi: 10.1016/j.jns.2020.117219. Epub 2020 Nov 14. PubMed PMID: 33310649.
  • Favre I, et al. A non-LAMB2 point mutation (R71Q) in exon 2 associated with late-onset partial epilepsy with pericentral spikes. Epilepsy Res. 2004 Sep;61(1-3):91-6. doi: 10.1016/j.eplepsyres.2004.06.004. PubMed PMID: 15519138.

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