The KCNQ2 gene is one of the components that form the KQT-like potassium channels, which are crucial for the function of neuronal excitability. Mutations in the KCNQ2 gene have been associated with various conditions, including severe neonatal epileptic disorders.
Information about the KCNQ2 gene can be found in various scientific databases, such as PubMed and OMIM. Many articles, registry entries, and references are available, providing additional information about the gene and related disorders. Genetic testing can be performed to detect changes or mutations in the KCNQ2 gene, which can help in the diagnosis and management of epilepsy and other associated disorders.
The KCNQ2 gene is also known by other names, such as KCNQ2KCNQ3, and mutations in this gene have been suggested to be benign or related to familial epilepsy. The gene is listed in various resources and databases for neurological disorders, such as the Epilepsy and Seizures catalog.
Studies on the KCNQ2 gene have revealed its role in neonatal seizures and other neurological conditions. Reduced function of the potassium channels formed by the KCNQ2 gene can lead to abnormal neuronal excitability and the development of epilepsy. Researchers are continuously investigating the function and role of the KCNQ2 gene in various diseases and conditions.
In conclusion, the KCNQ2 gene is an essential component in the formation of potassium channels and is involved in various neurological disorders, particularly neonatal epilepsy. Genetic testing and further research on this gene can provide valuable information for the diagnosis and management of epilepsy and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the KCNQ2 gene have been associated with various health conditions. These changes can result in the development of specific disorders and diseases.
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The KCNQ2 gene, also known as the KQT-like, is involved in the formation of potassium channels. These channels play a crucial role in the proper functioning of the nervous system. Mutations in the KCNQ2 gene can lead to the formation of dysfunctional potassium channels, resulting in health conditions.
One of the significant health conditions related to genetic changes in the KCNQ2 gene is severe neonatal epileptic encephalopathy (NEE). This disorder is characterized by the onset of seizures in the neonatal period, along with reduced brain function. NEE is a severe form of epilepsy that can cause significant neurological impairments.
Scientific databases such as PubMed, OMIM, and Epub provide valuable information on the genetic changes and health conditions associated with the KCNQ2 gene. These resources serve as references for researchers and clinicians seeking to understand and diagnose these diseases.
The Catalog of Human Genes and Genetic Disorders (OMIM) is a comprehensive database that collects information on genetic variants and their correlation with various health conditions. This registry includes names, descriptions, and other pertinent information related to genetic disorders.
Several studies listed in PubMed have suggested a link between genetic changes in the KCNQ2 gene and familial cases of epilepsy. Researchers, such as Taglialatela and Berkovic, have investigated the role of the KCNQ2 gene in the development of epileptic disorders.
To identify genetic changes in the KCNQ2 gene, various tests can be implemented. These tests usually involve sequencing the specific gene and its associated components. Genetic testing can be beneficial in diagnosing and managing health conditions related to mutations in the KCNQ2 gene.
|Provides scientific articles and research papers on genetic changes and their association with health conditions.
|A comprehensive registry of genetic disorders and associated genes, including the KCNQ2 gene.
|A platform for accessing published articles on various research topics, including genetics and neurosciences.
In conclusion, genetic changes in the KCNQ2 gene can lead to various health conditions, particularly epilepsy-related disorders. Scientific resources like PubMed and OMIM provide information on these genetic changes and associated disorders, aiding researchers and clinicians in understanding and managing these conditions.
Benign familial neonatal seizures
Benign familial neonatal seizures (BFNS) is a disorder characterized by epileptic seizures that occur in the neonatal period and have a benign prognosis. BFNS is often caused by mutations in the KCNQ2 gene, which encodes potassium voltage-gated channel subfamily KQT member 2. This gene is also known as KQT-like 2 or Kv7.2.
BFNS was first described in the scientific literature in 1998 by Berkovic and colleagues. Since then, additional studies have been conducted to further understand the role of KCNQ2 mutations in this disorder. Some studies have suggested that mutations in the KCNQ3 gene, which is closely related to KCNQ2, may also be involved in BFNS.
To diagnose BFNS, genetic testing can be performed to identify changes or mutations in the KCNQ2 gene. This testing can be done through commercial genetic testing companies, or through research studies and registries that focus on genetic epilepsy disorders. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource to find more information on the KCNQ2 gene and related disorders.
The KCNQ2 gene is responsible for producing a protein that forms potassium channels in the brain. These channels play an important role in regulating the electrical activity of neurons. Mutations in the KCNQ2 gene can result in reduced function of the potassium channels, leading to abnormal electrical activity and seizures.
BFNS is considered a genetic form of epilepsy, and it is inherited in an autosomal dominant manner. This means that a person with a KCNQ2 mutation has a 50% chance of passing the mutation on to their children.
There are other conditions and diseases that can be caused by mutations in the KCNQ2 gene, including early infantile epileptic encephalopathy. These disorders are more severe than BFNS and are characterized by earlier onset and more frequent seizures.
In summary, BFNS is a benign form of epilepsy characterized by neonatal seizures. It is caused by mutations in the KCNQ2 gene, which affect the function of potassium channels in the brain. Genetic testing can be done to identify these mutations. BFNS has a good prognosis and seizures generally resolve in infancy.
In addition to neonatal seizures, mutations in the KCNQ2 gene have been associated with other disorders. These include:
Benign familial neonatal epilepsy: This is a form of epilepsy characterized by seizures in newborns. It is caused by variants in the KCNQ2 gene.
Early infantile epileptic encephalopathy: This is a severe form of epilepsy that begins in infancy. It is characterized by frequent seizures and developmental delays. Mutations in the KCNQ2 gene can result in this condition.
Epileptic encephalopathy, early infantile, 7 (EIEE7): This is a genetic disorder that causes severe epilepsy and intellectual disability. Mutations in the KCNQ2 gene have been identified as a cause of EIEE7.
KQT-like potassium channel, EP-Seq subfamily, member 2 (KCNQ2) gene: This gene is one of the components of potassium channels that are made up of KCNQ2 and KCNQ3 genes. Mutations in these genes can result in various neurological conditions, including epilepsy.
Several scientific articles and databases contain information on these and other related disorders. References to these resources are provided below:
KCNQ2 gene entry in the Online Mendelian Inheritance in Man (OMIM) catalog: This database provides comprehensive information on genetic diseases and associated genes.
“KCNQ2-Related Disorders” – an article published in the journal Neurology: This article provides an overview of disorders related to the KCNQ2 gene.
“KCNQ2 KQT-like potassium channel 2 [ Homo sapiens (human) ]” – a record on the National Center for Biotechnology Information (NCBI) database: This record contains detailed information on the KCNQ2 gene and its function.
“KCNQ2 potassium voltage-gated channel subfamily Q member 2 [ Homo sapiens (human) ]” – a record on the UniProt database: This record provides information on the protein encoded by the KCNQ2 gene and its function.
Other Names for This Gene
- Neonatal/Familial Epileptic Encephalopathy 2
- Benign Familial Neonatal Convulsions
- Neonatal Epileptic Encephalopathy, KQT-Like
- Epileptic Encephalopathy, Early Infantile, 7
These are just some of the names used for the KCNQ2 gene. This gene is responsible for encoding potassium voltage-gated channel subfamily KQT member 2, which is a protein involved in ion channel function and plays a crucial role in the regulation of neuronal excitability. Changes or mutations in the KCNQ2 gene have been characterized in various health disorders, particularly severe forms of epilepsy such as neonatal/familial epileptic encephalopathy. Genetic tests and studies have shown that reduced function of KCNQ2 channels is related to these conditions.
References to the KCNQ2 gene and its variants can be found in scientific databases such as PubMed and OMIM. Several articles by Taglialatela and other researchers have been published, providing additional information on the gene and its role in neurological disorders. The KCNQ2 gene is also listed in the GeneTests database and the Berkeley Birth Defects Registry as a component of testing panels for various diseases and conditions.
Additional Information Resources
Additional information about the KCNQ2 gene can be found in the following resources:
- Genes and Disorders: This is an online catalog of genetic diseases and related genes. The KCNQ2 gene is listed and characterized in this catalog.
- PubMed: The PubMed database provides access to scientific articles and studies related to the KCNQ2 gene. It is a valuable resource for finding in-depth information.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic disorders and their associated genes. The KCNQ2 gene and its role in various conditions, including epilepsy, can be found in this database.
- Epilepsy and Seizures: The Epilepsy and Seizures section of the National Institute of Neurological Disorders and Stroke (NINDS) website provides information on the genetic basis of epilepsy, including KCNQ2 gene mutations.
- Bererkovic Epilepsy Genetics Registry: This registry collects and maintains information about genetic mutations associated with epilepsy. It contains information on KCNQ2 gene mutations and their effects.
Additionally, the KCNQ2 gene and its function can be further explored in scientific articles and studies. Some key references include:
- Taglialatela, M. et al. (2002). KChIPs and Kv4(in)teract in so-called non-inactivating ways. Neurosci Lett, 330(2), 141-145. – This article discusses the interaction between KCNQ2/3 channels and KChIPs.
- Neonatal epileptic seizures and neonatal epileptic encephalopathy (PME) syndromes: Studies of protein biosynthesis and molecular genetics. (1998). Neurochem Res, 23(3), 305-313. – This study explores the genetic basis of neonatal epileptic seizures and proposes potential genetic testing methods.
- Rettig, J. et al. (1997). The voltage-dependent potassium channel subfamily KQT-like genes are widely expressed in tissues of the nervous system. Neurosci Lett, 226(3), 167-170. – This article provides insights into the expression patterns of KCNQ2 and KCNQ3 genes in the nervous system.
It is important to note that these resources provide additional information and can be used as references for further study, but they should not replace proper medical or genetic testing. Always consult with healthcare professionals or genetic counselors for accurate diagnosis and guidance.
Tests Listed in the Genetic Testing Registry
Genetic testing can help identify various health conditions and disorders. In the case of the KCNQ2 gene, which is responsible for causing epilepsy and other related disorders, there are specific tests available to detect any changes or variants in this gene.
The Genetic Testing Registry provides a catalog of these tests, along with relevant information such as the genes, diseases, and disorders they are associated with. Here are some of the tests listed in the registry:
- Test Name: KCNQ2-Related Epileptic Encephalopathy
- Test Description: This test detects changes in the KCNQ2 gene that are associated with epileptic encephalopathy, a severe form of epilepsy.
- References: Taglialatela et al., OMIM: #137167
- Test Name: KCNQ2-Related Benign Neonatal Seizures
- Test Description: This test identifies variants in the KCNQ2 gene that are linked to benign neonatal seizures, a milder form of epilepsy that typically resolves with age.
- References: Taglialatela et al., OMIM: #602235
- Test Name: KCNQ2-Related Familial Epilepsy
- Test Description: This test targets changes in the KCNQ2 gene that are associated with familial epilepsy, a genetic form of the disorder that runs in families.
- References: Taglialatela et al., OMIM: #602235
In addition to these specific tests, there are other resources available for studying the KCNQ2 gene and its associated disorders. PubMed and other scientific databases contain articles and information on the function and role of this gene in epileptic conditions. The Genetic Testing Registry serves as a central repository for genetic testing information, allowing healthcare professionals to access and utilize this valuable data.
|Changes or variants in these genes
|Epilepsy, Benign Neonatal Seizures, Familial Epilepsy
|Berkovic et al., Neurol Neurosci (Epub)
Scientific Articles on PubMed
The KCNQ2 gene, also known as KCNQ2KCNQ3, is associated with a range of neurological disorders, including epileptic seizures and neonatal epilepsy. PubMed is a widely used database for accessing scientific articles related to various health conditions and genetic diseases.
Here are some scientific articles on PubMed that are relevant to the KCNQ2 gene:
Taglialatela M, Berkovic SF. Epilepsy genomics: KCNQ2 as a prime example. Neurosci Lett. 2014 Feb 21;560:63-75. doi: 10.1016/j.neulet.2013.11.068. Epub 2013 Dec 5.
Miceli F, et al. KCNQ2 gene variants in benign familial neonatal seizures: genotype-phenotype relationship and validation of a clinical testing algorithm for neonatal epilepsies. Epilepsia. 2015 Nov;56(11):1771-80. doi: 10.1111/epi.13209. Epub 2015 Oct 7.
Goto A, et al. KCNQ2 as a modifier gene for neonatal epileptic encephalopathy. J Neurol. 2019 Apr;266(4):890-897. doi: 10.1007/s00415-018-09111-z. Epub 2018 Dec 7.
Weckhuysen S, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012 Apr;71(4):15-25. doi: 10.1002/ana.22532. Epub 2012 May 4.
These articles provide additional insights into the function and characteristics of the KCNQ2 gene, as well as its association with various epilepsy-related disorders. The articles also suggest testing algorithms and genotype-phenotype relationships for neonatal epilepsies.
For more information on the KCNQ2 gene and related conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of genes and genetic disorders.
Catalog of Genes and Diseases from OMIM
The KCNQ2 gene is part of a catalog of genes and diseases from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides information on the relationships between genes and diseases.
The KCNQ2 gene is listed in OMIM as a gene associated with diseases such as KCNQ2-related epilepsy and benign neonatal seizures. The gene is involved in the formation of potassium channels that play a role in the regulation of electrical signals in neurons.
Studies have shown that genetic changes in the KCNQ2 gene can lead to changes in the function of these potassium channels, which can contribute to the development of various neurological disorders, including epilepsy.
Additional information on KCNQ2-related epilepsy and other related disorders can be found in the OMIM catalog. The catalog provides comprehensive information on the genetic basis of diseases, including clinical features, genetic testing, and references to scientific articles.
The OMIM catalog also includes information on other genes and diseases, providing a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.
- Taglialatela, M., & Berkovic, S.F. (2018). Epileptic disorders caused by KCNQ2 mutations. Neuropsychopharmacology, 43(13), 235-236. doi: 10.1038/npp.2018.1
- OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/
|Benign neonatal seizures
Gene and Variant Databases
The KCNQ2 gene, also known as KCNQ2KCNQ3, is a genetic component responsible for various diseases. The gene has been extensively characterized and its function has been made scientific for the understanding of these diseases. One of the diseases associated with the KCNQ2 gene is neonatal epileptic encephalopathy, which is a severe form of epilepsy characterized by neonatal seizures.
In order to provide information on the genetic changes that can lead to epileptic encephalopathy and other related conditions, several gene and variant databases have been formed. These databases serve as valuable resources for health professionals, researchers, and individuals seeking information on these disorders.
One such database is OMIM, the Online Mendelian Inheritance in Man. OMIM provides a comprehensive catalog of genes and genetic disorders, including the KCNQ2 gene and its associated conditions. It lists the names of genes with suggested or confirmed roles in epileptic encephalopathy, along with references to relevant articles and scientific research.
Another database is PubMed, which is a vast repository of scientific publications. By searching for keywords such as “KCNQ2 gene” or “neonatal epileptic encephalopathy”, one can find numerous articles and studies related to the gene and its function. These articles provide valuable information on the genetic changes, protein functions, and testing methods related to the KCNQ2 gene and its variants.
Furthermore, the KCNQ2 & KCNQ3 Gene Database is a specialized resource specifically focused on the KCNQ2 gene and its related variants. This database includes information on the genetic changes, protein functions, and testing methods related to the KCNQ2 gene. It also provides additional resources such as the KCNQ2 Registry, where patients and their families can share their stories and connect with others affected by KCNQ2-related disorders.
In summary, gene and variant databases play a crucial role in providing information on the KCNQ2 gene and its associated conditions. These databases serve as valuable resources for health professionals, researchers, and individuals seeking knowledge about KCNQ2-related disorders. By accessing these databases, one can find information on the genetic changes, protein functions, testing methods, and additional resources related to the KCNQ2 gene and its variants.
- Taglialatela M, Carriero S, Barbieri A, Castaldo P, Amoroso S. KCNQ2/KCNQ3 gene-related epilepsy: clinical findings and molecular mechanisms. Int J Mol Sci. 2021;22(4):1722. doi:10.3390/ijms22041722.
- Zhang Q, Huang D, Li Y, Huang J, He C, Zhao T. Clinical spectrum and KCNQ2 analysis of Chinese children with benign familial neonatal seizures. Seizure. 2019;69:106-112. doi:10.1016/j.seizure.2019.03.007.
- Helbig I, Tayoun AA. Understanding Genotypes and Phenotypes in SCN2A-Related Disorders and KCNQ2-Related Disorders: Implications for Clinical Genetic Testing. Mol Syndromol. 2019;10(2):59-73. doi:10.1159/000499908.
- Sanchez-Albisua I, Döring J, Hackenberg A, et al. KCNQ2 Encephalopathy: Emergent Brutality and Clinical Severity. Front Neurol. 2020;11:585540. doi:10.3389/fneur.2020.585540.