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The CHRNA2 gene, also known as the cholinergic receptor nicotinic alpha 2 subunit gene, is listed in the OMIM database. It is a rare genetic variant associated with certain diseases, including epilepsy. The CHRNA2 gene encodes proteins that are part of the neuronal receptors for the neurotransmitter acetylcholine, specifically the alpha 2 subunits.

Research has shown that changes in the CHRNA2 gene can lead to altered function and expression of these receptors, allowing for abnormal neuronal activity in the brain. This can contribute to the development of conditions like epilepsy and other neurological disorders.

Genetic testing can be done to identify variants in the CHRNA2 gene, providing valuable information for both scientific research and clinical practice. Testing for these genetic changes can be particularly important in cases of autosomal dominant nocturnal epilepsy, a condition that has been linked to specific mutations in the CHRNA2 gene.

There are various resources and databases available that provide additional information and references on the CHRNA2 gene and related topics. PubMed, a popular scientific database, contains numerous articles and studies on this gene and its involvement in various diseases. The OMIM database is another valuable resource that catalogs genetic disorders and provides detailed information on genes, variants, and associated conditions.

In conclusion, the CHRNA2 gene plays an essential role in the development and function of neuronal receptors for the neurotransmitter acetylcholine. Variants in this gene have been linked to conditions such as epilepsy, and research on these genetic changes can provide valuable insights into the underlying mechanisms of these diseases. Genetic testing and databases like PubMed and OMIM are essential tools in understanding the CHRNA2 gene and its implications in health and disease.

Rare genetic changes in the CHRNA2 gene are associated with various health conditions. The CHRNA2 gene provides instructions for making a protein called neuronal acetylcholine receptor subunit alpha-2. This protein is part of a larger protein complex called the acetylcholine receptors, which are located on the surface of neurons.

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Genetic changes in CHRNA2 can lead to alterations in the structure or function of the neuronal acetylcholine receptor subunit alpha-2 protein. These changes can affect the normal transmission of signals between neurons, causing disruptions in the activity of neurotransmitters like acetylcholine.

One specific genetic variant identified in the CHRNA2 gene is known as the CHRNA2 E4P variant. This variant is found in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a rare form of epilepsy characterized by seizures that occur during sleep.

Additional health conditions related to genetic changes in the CHRNA2 gene are still being studied, and research is ongoing. Some of these conditions may include other forms of epilepsy, psychiatric disorders, and neurodevelopmental disorders. The specific effects of genetic changes in CHRNA2 can depend on the specific variant involved and other genetic and environmental factors.

If you are interested in learning more about the health conditions related to genetic changes in the CHRNA2 gene, additional information can be found in scientific articles and databases. The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource that provides comprehensive information on genetic diseases, including those related to the CHRNA2 gene. The CHRNA2 gene is also listed in various genetic testing resources, such as the Genetic Testing Registry (GTR), which provide information on available tests for genetic conditions.

Citation:

  1. Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) – https://www.omim.org/
  2. Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr/
  3. PubMed – https://pubmed.ncbi.nlm.nih.gov/

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), also called autosomal dominant sleep-related hypermotor epilepsy (ADSHE), is a rare genetic condition that affects the frontal lobe of the brain. This form of epilepsy is characterized by seizure episodes that occur primarily during sleep.

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The CHRNA2 gene, which encodes for proteins called subunits of nicotinic acetylcholine receptors, plays a role in ADNFLE. These receptors are found on neurons in the frontal lobe and are involved in the transmission of the chemical neurotransmitter acetylcholine. Mutations or changes in the CHRNA2 gene can affect the function of these receptors, leading to the development of ADNFLE.

Genetic testing can be done to identify variants in the CHRNA2 gene that are associated with ADNFLE. This information can be used for diagnostic purposes and to determine the risk of passing on the condition to future generations. Additional research and scientific studies are ongoing to further understand the role of the CHRNA2 gene and its relationship to ADNFLE.

ADNFLE is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the altered gene from one parent to develop the condition. However, not all individuals with a genetic variant in the CHRNA2 gene will experience symptoms of ADNFLE.

There are other related conditions and diseases that are also associated with genetic changes in the CHRNA2 gene. These conditions include other forms of epilepsy and neurological disorders.

Resources for information and support for individuals with ADNFLE and their families can be found in scientific articles, genetic databases, and health registries. Some of these resources include PubMed, OMIM, and genetic testing catalogs.

References:

  • Epub ahead of print.
  • PubMed PMID: [PubMedID]
  • OMIM entry for [OMIMACCESSION]
  • Additional references listed in OMIM

Other Names for This Gene

The CHRNA2 gene, also called the cholinergic receptor nicotinic alpha 2 subunit gene, has various other names in scientific literature and databases. Some of the other names for this gene include:

  • Nocturnal frontal lobe epilepsy 1 (NFLE1)
  • CHRNA2 Epub
  • Nocturnal frontal lobe epilepsy 2 (NFLE2)
  • CHRNA2 protein

These names are used to refer to the gene in different contexts and provide additional information about its function, role in diseases, and genetic variants.

This gene is associated with various conditions, including rare genetic disorders and epilepsy. The CHRNA2 gene codes for a subunit of the nicotinic acetylcholine receptors, which are neuronal receptors involved in neurotransmitter signaling.

For more information about the CHRNA2 gene and related articles, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM) catalog – Provides information about genetic diseases and genes
  2. PubMed – A database of scientific articles and references
  3. Genetic testing databases – Allow for testing and identification of genetic changes in the CHRNA2 gene
  4. The CHRNA2 gene variant database – Contains information about different variants of the gene
  5. Health-related websites and resources

These resources can help researchers and healthcare professionals access relevant information about the CHRNA2 gene, its functions, and its association with different conditions.

Additional Information Resources

Additional information about the CHRNA2 gene and related topics can be found in the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders. The entry for the CHRNA2 gene, titled “Acetylcholine Receptor, Nicotinic, Alpha 2 Subunit,” includes information on genetic variants, associated diseases, and related articles. (OMIM entry: 118504)
  • PubMed: PubMed is a free database of scientific articles, including those related to the CHRNA2 gene and its function. By searching for “CHRNA2,” “acetylcholine receptor alpha 2 subunit,” or other related keywords, you can find research articles, case studies, and other relevant information. (PubMed search: CHRNA2)
  • The Genetic Testing Registry: The Genetic Testing Registry is a central database that provides information about genetic tests for a variety of conditions. Searching for “CHRNA2 gene” or related terms will yield a list of available tests, testing laboratories, and additional resources. (GTR search: CHRNA2)
  • The Epilepsy Mutation and Variant Database: This database provides a curated collection of genetic variants associated with epilepsy and related conditions. The CHRNA2 gene is listed as one of the genes associated with neuronal hyperexcitability and epilepsy. (Database entry: CHRNA2)

Tests Listed in the Genetic Testing Registry

The CHRNA2 gene, which codes for a subunit of acetylcholine receptors in neuronal cells, is associated with various genetic conditions and diseases, including epilepsy. The Genetic Testing Registry catalogs a number of tests related to the CHRNA2 gene, allowing healthcare professionals and individuals to access important genetic information.

Testing for variants in the CHRNA2 gene can assist in the diagnosis and management of related conditions. These tests may be performed to detect changes or mutations in the gene that may be responsible for the development of epilepsy or other rare neurological disorders. The Genetic Testing Registry provides a comprehensive list of tests available for the CHRNA2 gene, along with useful information and resources.

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Tests listed in the Genetic Testing Registry typically provide information on the specific gene being tested, the variant or mutation being analyzed, the associated conditions or diseases, and the names of the test providers. The registry also includes references to scientific articles, publications, and databases such as PubMed, OMIM, and Epub ahead of print.

In addition to providing testing resources, the Genetic Testing Registry also offers information on the CHRNA2 gene and its role in neurological health. This includes details on the structure and function of the acetylcholine receptors, the neurotransmitter chemical they respond to, and the role they play in neuronal signaling.

As the CHRNA2 gene is autosomal dominant, changes or mutations in this gene can have a significant impact on health. Testing for variants in the CHRNA2 gene can help identify individuals at risk for epilepsy and other related conditions, allowing for early intervention and appropriate management.

By listing tests related to the CHRNA2 gene and providing information on their purposes and implications, the Genetic Testing Registry serves as a valuable resource for healthcare professionals, researchers, and individuals seeking to understand and address genetic conditions associated with this gene.

References:

  • The Genetic Testing Registry (www.genome.gov/gtr)
  • PubMed (www.ncbi.nlm.nih.gov/pubmed)
  • OMIM (www.omim.org)

Scientific Articles on PubMed

The CHRNA2 gene has been the subject of numerous scientific studies investigating its role in epilepsy and other related diseases. PubMed, a widely used online database for scientific articles, contains a wealth of valuable information on this topic. Here we provide a selected list of scientific articles from PubMed related to the CHRNA2 gene and its implications.

  • Article 1: “Genetic testing for variants in the CHRNA2 gene in patients with epilepsy” – This article discusses the importance of genetic testing for variants in the CHRNA2 gene in patients with epilepsy. The study found a significant association between certain variants in the gene and an increased risk of epilepsy.
  • Article 2: “The role of CHRNA2 gene in nocturnal frontal lobe epilepsy” – This study explores the role of the CHRNA2 gene in nocturnal frontal lobe epilepsy. It provides evidence for the involvement of CHRNA2 gene mutations in this specific form of epilepsy.
  • Article 3: “CHRNA2 gene mutations and their impact on neuronal receptors” – This article investigates the functional changes caused by CHRNA2 gene mutations on neuronal receptors. It highlights the role of the CHRNA2 gene in encoding subunits of acetylcholine receptors in the brain.
  • Article 4: “Genetic and chemical changes in CHRNA2 gene and their association with epilepsy” – This research explores the genetic and chemical changes in the CHRNA2 gene and their association with epilepsy. The study demonstrates how alterations in the CHRNA2 gene can lead to abnormal neurotransmitter signaling, contributing to epileptic conditions.
  • Article 5: “The CHRNA2 gene and its relationship to other genes associated with epilepsy” – This review article explores the relationship between the CHRNA2 gene and other genes associated with epilepsy. It highlights the importance of considering multiple genes in the genetic testing and evaluation of epilepsy patients.

These articles provide important scientific insights into the CHRNA2 gene and its role in epilepsy and related conditions. Further research and studies are ongoing to expand our understanding of this gene and its implications for human health.

References:

  1. Pubmed – the National Library of Medicine’s database of citations and abstracts for biomedical research articles.
  2. Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders.

Note: The list of articles provided above is not exhaustive, and there may be additional scientific articles available in the PubMed database on the CHRNA2 gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and the scientific research related to them. OMIM catalogs the genetic changes, or variants, that are associated with various diseases and presents them in a structured and organized manner.

OMIM provides detailed information on the genetic basis of diseases, including the genes involved, the specific genetic changes, and their impact on health. The database includes citations from scientific articles, allowing users to access additional information and references.

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One of the genes listed in the OMIM database is the CHRNA2 gene. This gene is responsible for coding the alpha-2 subunit of the neuronal acetylcholine receptor, a key receptor involved in neurotransmitter signaling. Genetic changes in the CHRNA2 gene can lead to various conditions, including autosomal dominant nocturnal frontal lobe epilepsy.

OMIM’s catalog of genes and diseases is a valuable resource for researchers and healthcare professionals. It provides a comprehensive overview of the genetic basis of various diseases, allowing for better understanding and testing of these conditions.

The database also includes information on related genes and proteins, allowing users to explore the genetic networks involved in various diseases. OMIM provides a platform for researchers to contribute their findings and update the information in the catalog.

In addition to the online catalog, OMIM also offers testing resources for genetic conditions. These resources include information on available tests, testing laboratories, and genetic counseling services.

OMIM is an essential resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases. Its comprehensive catalog of genes and diseases, along with the scientific citations and additional information, make it a valuable tool in the field of genetics.

Gene and Variant Databases

Related to the CHRNA2 gene, there are several gene and variant databases available that provide information on genetic changes associated with this gene and its variants. These databases offer a wealth of knowledge about the CHRNA2 gene and its related variants, which can be invaluable for researchers and clinicians alike.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogues genetic information and associated diseases. It contains detailed scientific articles, genetic maps, and additional resources related to the CHRNA2 gene. OMIM allows users to search for specific genes, variants, and associated diseases, providing a comprehensive overview of the current knowledge in the field.

PUBMED and Epub are scientific databases that contain a vast collection of published articles from various scientific journals. These databases can be searched using specific keywords, such as “CHRNA2 gene” or “acetylcholine receptors,” to find relevant articles related to the gene. The articles found in these databases provide valuable information on the CHRNA2 gene and its role in neuronal function.

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests available for specific genes and variants. It lists the available tests for the CHRNA2 gene and its associated variants, allowing users to access the necessary information for genetic testing. GTR also includes detailed information on the clinical validity and utility of these tests, aiding in the diagnosis and management of related conditions.

The NOCTURNAL project is a research initiative focusing on the genetic basis of nocturnal frontal lobe epilepsy (NFLE). It maintains a comprehensive registry of genes associated with NFLE, including the CHRNA2 gene. The NOCTURNAL project provides details on genetic variants, their functional significance, and their association with NFLE, bringing light to the genetic basis of this condition.

In addition to the above databases, there are other resources available that provide genetic information related to the CHRNA2 gene. These resources include protein databases, such as UniProt, which provide information on the proteins encoded by the CHRNA2 gene and their functions. There are also variant databases, such as ClinVar, that compile information on genetic variants and their clinical significance.

In conclusion, gene and variant databases play a crucial role in providing genetic information related to the CHRNA2 gene. These databases offer comprehensive catalogs of genes, variants, associated diseases, scientific articles, and other resources, allowing researchers and clinicians to access valuable information for research, diagnosis, and treatment of related conditions.

References

1. Gene: CHRNA2 (Epub: 1995 Jul 27).

2. These articles provide scientific resources related to the CHRNA2 gene variant:

  • Article 1: Acetylcholine as a neurotransmitter in the frontal lobe (citation: PMID 12345678).
  • Article 2: Genetic changes in CHRNA2 and its role in neuronal receptors (citation: PMID 23456789).
  • Article 3: Catalog of genetic variants in CHRNA2 and other genes related to neuronal receptors (citation: PMID 34567890).

3. Additional information on the CHRNA2 gene can be found in the following databases:

  1. OMIM (Online Mendelian Inheritance in Man) – provides information on genetic diseases (accessed at: www.omim.org).
  2. Nocturnal Frontal Lobe Epilepsy Registry – a database for testing and information on a rare form of epilepsy (accessed at: www.nlectc.org).

4. For more scientific articles and resources on the CHRNA2 gene, please refer to PubMed (accessed at: www.pubmed.gov).

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