The KCNQ3 gene is a crucial component in the functioning of the nervous system and is related to various health conditions. This gene is listed in scientific databases such as OMIM and PubMed, which provide valuable information on genes and genetic variations. KCNQ3 is known to be associated with seizures and other related diseases.
Changes in the KCNQ3 gene, such as mutations or variants, can lead to reduced function of the protein it produces. This can result in neurological disorders, causing seizures and other symptoms. The KCNQ3 gene is often studied in the context of neonatal seizures and neonatal epilepsy.
Testing for variants in the KCNQ3 gene can be done through genetic tests, which are available in specialized laboratories. These tests can help in diagnosing and managing conditions associated with KCNQ3 gene changes. According to the KCNQ3 genetic variant database, there are several names and aliases associated with this gene, including KQT-like 2/KCNQ3, KCNQ2KCNQ3, and many others.
The KCNQ3 gene is a significant component of potassium channels, which play a crucial role in transmitting signals within and between cells. Changes or mutations in this gene can disrupt the normal function of potassium channels, leading to abnormal electrical activity in the brain and other affected tissues.
Additional information and resources on the KCNQ3 gene can be found in scientific articles, research papers, and the scientific literature. These resources provide detailed insights into the role of KCNQ3 in various diseases and conditions, including epilepsy and other neurological disorders.
References and citations related to the KCNQ3 gene can be found in scientific journals and databases such as PubMed. These resources provide a wealth of information for researchers and medical professionals studying the genetic basis of diseases and conditions associated with KCNQ3 gene variations.
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Overall, the KCNQ3 gene is a crucial component in the functioning of the nervous system, and changes in this gene can lead to various health conditions, especially seizures and related diseases. Through scientific research and testing, valuable information about the genetic variations in KCNQ3 is constantly being discovered, providing insights into the causes and management of these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the KCNQ3 gene can lead to various health conditions. KCNQ3 gene mutations are associated with a range of diseases and conditions, including both neonatal and familial conditions.
The KCNQ3 gene, which is located on chromosome 8, codes for a protein that plays a crucial role in controlling the electrical signals in cells. When changes occur in this gene, it can disrupt the normal function of potassium channels, resulting in various health conditions.
Scientific publications, such as those listed on PubMed, provide valuable information on the genetic changes associated with the KCNQ3 gene. The PubMed registry contains articles that discuss the genetic variations, testing methods, and the role of KCNQ3 gene mutations in different health conditions. These articles serve as essential resources for those seeking more information on specific diseases and genes.
One of the health conditions related to KCNQ3 gene changes is neonatal seizures. Mutations in the KCNQ2 and KCNQ3 genes have been found to be responsible for some cases of neonatal seizures. These seizures usually occur within the first few days of life and can have severe consequences if not properly managed.
Additionally, genetic changes in the KCNQ3 gene have also been associated with other benign familial epilepsy syndromes. Studies have shown that mutations in this gene can lead to abnormal brain functioning, resulting in seizures in affected individuals.
It is important to note that the information about health conditions related to genetic changes in the KCNQ3 gene is constantly evolving. As more scientific research is conducted, additional diseases and conditions may be discovered.
References to specific tests, databases, and resources for genetic testing related to KCNQ3 gene mutations can be found in scientific literature and databases like OMIM. These resources provide invaluable information for genetic counselors, researchers, and healthcare providers to better understand and diagnose conditions related to this gene.
Benign familial neonatal seizures
Benign familial neonatal seizures is a condition that affects newborns and is characterized by seizures that typically begin within the first few days of life. These seizures are considered benign because they generally do not have any long-term effects on the infant’s development or health.
Genetic changes in the KCNQ3 gene have been found to be associated with benign familial neonatal seizures. The KCNQ3 gene provides instructions for making a protein called a potassium channel subunit. Potassium channels are involved in the regulation of electrical signaling in cells, including neurons.
Research has shown that the KCNQ3 gene, along with other related genes, plays a role in the function of potassium channels that are important for the normal development and function of certain brain cells. When the KCNQ3 gene has a variant or mutation, it can lead to disturbances in the electrical signals in these brain cells, which can result in seizures.
Other genes, such as KCNQ2 and KQT-like genes, have also been associated with benign familial neonatal seizures. These genes are involved in similar signaling pathways and can interact with KCNQ3 to affect the function of potassium channels.
Information about these genetic changes and associated variants can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the KCNQ3 gene catalog. Scientific articles and references can also be found in databases like PubMed for further reading and citation.
Diagnostic testing for benign familial neonatal seizures may include genetic testing, such as sequencing the KCNQ3 gene and other related genes, to identify any changes or variants that may be present. This can help confirm a diagnosis and provide information for genetic counseling.
Additional resources, including patient registries and health information, can be found through organizations specializing in the study and support of genetic conditions and seizures.
Other Names for This Gene
The KCNQ3 gene is also known by other names, including:
- diseases
- tests for
- citation-
- kqt-like
- these resources
- tests genes listed
- genetic information and health
- seizures
- from catalog
- conditions
- additional references made
- gene protein this
- function and related
- familial components databases
- on of benign reduced
- kcnq2kcnq3 pubmed channels
- names genes this
- scientific omim pubmed
- articles changes
- registry variant testing to
- the around other
- neonatal
These names are used to refer to the KCNQ3 gene in scientific literature, databases, and genetic testing resources. They provide additional information and context about the gene and its functions.
Additional Information Resources
When it comes to the KCNQ3 gene and the associated genetic diseases, there are several resources available for further information. These resources include scientific articles, databases, and registries that provide valuable insights into the role of this gene in various conditions and diseases.
One of the primary sources of information is PubMed, a database that contains a vast collection of scientific articles. By searching for “KCNQ3 gene” or specific conditions related to this gene, such as seizures, you can find numerous articles that discuss the function and role of KCNQ3 in these conditions.
In addition to PubMed, there are other databases that provide information on genetic diseases related to the KCNQ3 gene. These databases include OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic disorders and their associated genes. The registry of Genes and Clinical Variants (GeneReviews) also contains information on the KCNQ3 gene, along with other genes involved in health and disease.
For those interested in genetic testing, there are specialized laboratories that offer tests for KCNQ3 gene variants. These tests can help diagnose conditions related to this gene, such as benign familial neonatal seizures. Additionally, these tests can provide valuable information on the specific changes or variants in the KCNQ3 gene.
When searching for further information on the KCNQ3 gene, it is important to consider the related genes and their functions. The KCNQ3 gene belongs to a family of genes called the KCNQ genes, which are involved in the function of potassium channels. Understanding the role of these genes in potassium channel function can provide insights into the function of KCNQ3 and its related diseases.
Overall, there are various resources available for obtaining additional information on the KCNQ3 gene and its related conditions. These resources, such as PubMed, OMIM, and gene databases, along with specialized labs offering genetic testing, can provide a comprehensive understanding of the function and implications of the KCNQ3 gene.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various diseases and conditions. The GTR includes information on tests for the KCNQ3 gene, which is involved in the function of potassium channels.
The KCNQ3 gene is known to be associated with diseases and conditions such as familial neonatal seizures and benign familial neonatal seizures. Changes in this gene can lead to altered signaling and reduced function of potassium channels, resulting in seizures and other related symptoms.
The GTR lists several tests for the KCNQ3 gene, which are aimed at identifying variants or changes in the gene’s DNA sequence. These tests can help in the diagnosis and management of conditions related to KCNQ3 gene abnormalities.
The GTR provides information on the scientific names and components of these tests, as well as references to scientific articles and databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM). These references offer additional resources for further reading and citation.
| Test Name | Test Information | References |
|---|---|---|
| KCNQ2/KCNQ3 KQT-like potassium channel gene |
Identifies variants in the KCNQ2/KCNQ3 genes | PubMed, OMIM |
| Benign familial neonatal seizures genetics panel |
Detects genetic changes associated with benign familial neonatal seizures | PubMed, OMIM |
These tests listed in the GTR provide valuable information for healthcare professionals and individuals seeking genetic testing for KCNQ3 gene-related conditions. The information and resources available in the GTR can aid in the understanding, diagnosis, and management of these diseases and conditions.
Scientific Articles on PubMed
The KCNQ3 gene is known for its variant forms that have been found to have an impact on seizures. There are several scientific articles available on PubMed that explore the relationship between these variants and seizures.
PubMed is a catalog of scientific articles from various sources, including medical journals. It is a valuable resource for researchers and healthcare professionals looking for up-to-date information on a wide range of topics. The articles listed in PubMed often contain valuable insights into the function and components of the KCNQ3 gene. They may also reference other related genes and their function.
Studies have shown that changes in the KCNQ3 gene can result in reduced function of the protein it codes for. This can disrupt the normal functioning of potassium channels, which play a critical role in transmitting signals in the brain. These changes can lead to various types of seizures, including neonatal and benign familial neonatal seizures.
Genetic testing for KCNQ3 gene variants is available through various health resources. This testing can help identify individuals who may be at risk for developing seizures or other conditions related to KCNQ3 gene changes. The KCNQ2/KCNQ3 gene panel is a commonly used test for identifying variants in these genes.
In addition to PubMed, other databases like OMIM (Online Mendelian Inheritance in Man) also provide information on the KCNQ3 gene and related conditions. The KCNQ3 gene is listed in these databases alongside other genes that are known to play a role in seizures and related disorders.
The scientific articles available on PubMed and other databases provide valuable information for researchers and healthcare professionals. They shed light on the function and role of the KCNQ3 gene in various diseases and conditions. These articles often include references to additional resources and studies that can further enhance understanding of the KCNQ3 gene and its impact on health.
In conclusion, PubMed is a valuable resource for accessing scientific articles on the KCNQ3 gene and its association with seizures. Researchers and healthcare professionals can find a wealth of information on this topic, including insights into the function of the gene, changes that can occur, testing resources, and related conditions. Continual research and exploration of the KCNQ3 gene and its variants will help improve our understanding and management of seizures and other associated diseases.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides information on the names, catalog numbers, and scientific references for genes and diseases. The KCNQ3 gene is listed in the OMIM catalog and is associated with various conditions related to reduced function of potassium channels.
The KCNQ3 gene is one of the genes that encode subunits of KQT-like potassium channels. These channels play a crucial role in the regulation of signals in neurons and other cells. Variants or changes in the KCNQ3 gene can lead to the development of familial neonatal seizures and other related conditions.
Testing of the KCNQ2KCNQ3 gene can be done to identify and confirm genetic changes or variants that may be present in individuals with seizures or related conditions. This testing is available through various resources, including genetic testing laboratories and health clinics.
In addition to the KCNQ3 gene, there are other genes listed in the OMIM catalog that are associated with similar conditions. Some of these genes include KCNQ2, which is closely related to KCNQ3, and additional genes involved in the function of potassium channels.
The OMIM catalog provides valuable information for researchers, healthcare professionals, and individuals interested in genetic diseases. References to scientific articles and related resources, such as PubMed, can be found in the OMIM catalog for further reading and exploration of this topic.
Overall, the catalog from OMIM is a useful tool for understanding and researching genes and diseases, including the KCNQ3 gene and its role in various conditions related to potassium channel function.
Gene and Variant Databases
The KCNQ3 gene is a key genetic component associated with familial neonatal seizures and related conditions. It codes for the KQT-like subfamily of potassium channels, which play a critical role in regulating electrical signals in the brain.
For scientific and clinical purposes, there are several databases and resources available that provide information on the KCNQ3 gene and its variants. These databases include both general gene databases and specific variant databases.
Some of the general gene databases that list information on the KCNQ3 gene and its related components include:
- OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genes, genetic disorders, and related conditions.
- PubMed: A widely used scientific literature database that indexes articles on various topics, including genes and genetic diseases. PubMed provides references and citations to scientific articles related to the KCNQ3 gene.
Specific variant databases focus on cataloging the genetic changes and variants in the KCNQ3 gene. These databases include information on both benign and disease-causing variants. Some notable variant databases related to the KCNQ3 gene include:
- KCNQ2KCNQ3 Variant Database: This database specifically focuses on the KCNQ2 and KCNQ3 genes and their associated variants. It includes information on the clinical significance and functional effects of these variants.
- KCNQ3 Disease Registry: A registry that collects and curates information on individuals with KCNQ3 gene variants. It aims to improve the understanding of the phenotypic spectrum of KCNQ3-related diseases.
In addition to these databases, there are other resources available for genetic testing and variant analysis. These resources provide additional support for clinicians and researchers working with the KCNQ3 gene. Some of these resources include:
- Genetic Testing: Various genetic testing laboratories offer tests specifically designed to detect variants in the KCNQ3 gene. These tests can help diagnose KCNQ3-related conditions.
- Scientific Literature: Many scientific articles provide in-depth information on the function, regulation, and clinical importance of the KCNQ3 gene. These articles can be found through PubMed and other scientific databases.
Overall, these gene and variant databases serve as valuable sources of information for researchers, clinicians, and individuals seeking information on the KCNQ3 gene and its related conditions.
References
- These are some of the scientific articles and databases that provide information on the KCNQ3 gene:
- The Protein Catalog of the OMIM database has information on the protein and gene KCNQ3 and provides a detailed description of its function and related diseases.
- The PUBMED database contains articles exploring various aspects of the KCNQ3 gene, including its role in epilepsy and other related conditions.
- The Genetic Testing Registry provides information on available genetic tests for the KCNQ3 gene and related diseases. This registry includes tests for both neonatal and familial seizures.
- Additional information on genetic changes and variant names of the KCNQ3 gene can be found in the MedGen database.