The KCNT1 gene is a genetic component that plays a crucial role in the transport and regulation of ion channels in the brain. This gene, also known as the KCa4.1 gene, provides instructions for producing a protein that forms potassium channels. These channels are responsible for controlling the flow of potassium ions across cell membranes, which is critical for the normal functioning of nerve cells.
Mutations or changes in the KCNT1 gene can lead to various neurological disorders, including epilepsy. Research articles, scientific studies, and databases have cited the KCNT1 gene, making it a focus of significant scientific interest. Mutations in this gene have been associated with several epilepsy syndromes, such as benign familial neonatal-infantile seizures, epileptic encephalopathy, and nocturnal frontal lobe epilepsy.
Testing for variations in the KCNT1 gene can be done through genetic testing, which can help diagnose and identify individuals with epilepsy or related conditions. Recurrent seizures, delayed development, and migrating partial seizures are some of the symptoms and conditions associated with mutations or changes in this gene.
Publications and resources such as OMIM, PubMed, and the KCNT1 gene registry provide additional information and references related to the KCNT1 gene. These sources can be used to generate a comprehensive understanding of the gene’s role and its implications in various diseases and health conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the KCNT1 gene have been associated with several health conditions. These changes can affect the functioning of the gene and lead to various diseases and disorders.
- Partial epilepsy with migrating focal seizures in infancy: This condition is characterized by recurrent seizures that move from one brain lobe to another.
- Nocturnal frontal lobe epilepsy: This autosomal dominant disorder causes seizures during sleep.
- Malignant migrating partial seizures of infancy: This condition is characterized by recurrent seizures that begin in infancy and can cause developmental delay.
To diagnose these conditions, genetic tests can be performed to detect changes in the KCNT1 gene. These tests can be done using various resources, such as databases, scientific articles, and genetic testing channels. Additionally, references and citations from the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide additional information.
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Genetic changes in the KCNT1 gene have been found to increase the risk of developing these health conditions. These changes can affect the components and transport of the KCNT1 protein, leading to abnormal brain activity and seizures.
For individuals with suspected genetic changes in the KCNT1 gene, testing and registry resources can be helpful in confirming the presence of these changes. These resources can provide information on variant names, testing methods, and other related conditions.
| Reference | Publication | PubMed ID |
|---|---|---|
| 1 | OMIM | Citation |
| 2 | Scientific Catalog | Citation |
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a genetic condition characterized by recurrent partial seizures that occur predominantly during sleep. ADNFLE is caused by mutations in the KCNT1 gene, which encodes a protein that plays a role in the transport of ions across cell membranes.
Seizures in ADNFLE typically begin in infancy or early childhood and are characterized by sudden episodes of motor activity, often accompanied by vocalizations or other vocalizations. These seizures can vary in severity and duration. One key feature of ADNFLE is the presence of sleep-related seizures, which often occur during the first few hours of sleep.
Testing for mutations in the KCNT1 gene is used to confirm a diagnosis of ADNFLE. Increased understanding of the genetic changes associated with ADNFLE has allowed for the development of specific genetic tests. Genetic testing can also help in the identification of individuals at risk for developing ADNFLE and inform genetic counseling and family planning decisions.
In addition to ADNFLE, mutations in the KCNT1 gene have been associated with other conditions such as malignant migrating partial seizures of infancy (MMPSI). MMPSI is a severe epileptic encephalopathy characterized by recurrent seizures and developmental delay.
Further research on the KCNT1 gene and related ion channels may provide insight into the underlying mechanisms of ADNFLE and other related epilepsies. Understanding these mechanisms can lead to the development of more targeted treatments for individuals affected by these conditions.
References:
- PubMed
- OMIM
- Genetic Testing Registry
Malignant migrating partial seizures of infancy
Malignant migrating partial seizures of infancy (MMPSI) is a rare form of epilepsy characterized by recurrent seizures that typically begin in infancy. These seizures are often nocturnal and can involve multiple areas of the brain, leading to cognitive and developmental delays.
The KCNT1 gene is a major genetic component of MMPSI. Mutations in this gene are associated with an autosomal dominant form of the condition, meaning that a single copy of the mutated gene is sufficient to cause the disease. This gene encodes a potassium channel protein that is involved in the transport of potassium ions across cell membranes.
Testing for mutations in the KCNT1 gene can be done through genetic testing laboratories or other diagnostic tests. Several databases and resources, such as OMIM, PubMed, and scientific publications, provide information on the KCNT1 gene and related conditions. These resources can generate a catalog of protein variant names and associated citations.
In addition to KCNT1, other genes and channels involved in potassium transport can also contribute to MMPSI. Frontal lobe changes are often observed in individuals with this condition, but the precise mechanisms underlying the seizures are still not fully understood.
Health professionals can use this information on MMPSI and the KCNT1 gene to assist in the diagnosis and management of individuals with epilepsy and to provide appropriate genetic counseling for affected families.
References:
- OMIM database: KCNT1 gene
- PubMed: KCNT1 gene and malignant migrating partial seizures of infancy
- Genetic testing laboratories
Other Names for This Gene
- KCNC1
- Shaker-related subfamily K member 1
- K+ channel subfamily C member 1
- Potassium voltage-gated channel subfamily C member 1
- VGKC-related gene
- Brain potassium ion channel KvC1.1
- BCNT1
The KCNT1 gene is also known by several other names:
- KCNA4: This is an older name for the gene, which refers to its classification in the KCNA (Kalirin-associated sodium activated potassium channel) family. However, further research has shown that the KCNA4 gene is not directly related to KCNT1.
- KCNB1: Another older name for the KCNT1 gene. Similar to KCNA4, further research has shown that KCNB1 is not directly related to KCNT1.
- mKC1: This is an abbreviation derived from the scientific name for the gene, mouse KCNT1.
These alternative names may be used in scientific literature, databases, or genetic testing reports. It’s important to be familiar with these names when searching for additional information and resources related to KCNT1.
Additional Information Resources
- Genes and Tests: This comprehensive database provides information on the KCNT1 gene, including details about the variant testing procedures and tools available for detecting genetic changes in this gene.
- PubMed: The PubMed database offers a wide range of scientific articles related to the KCNT1 gene and its role in various diseases and conditions. Searching for “KCNT1 gene” on PubMed can help generate a list of relevant articles and references.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. The KCNT1 gene is listed in the OMIM database, providing valuable information on its associated health conditions and related genes.
- Nocturnal Frontal Lobe Epilepsy (NFLE) Registry: This registry collects data on individuals diagnosed with NFLE, a condition often caused by KCNT1 gene mutations. The registry can provide additional information and resources for individuals and families affected by NFLE.
- Transport Delivery: The Transport Delivery platform offers a wide range of resources related to the KCNT1 gene, including information about the protein’s components and its role in transporting ions. These resources can provide valuable insights into the function of the KCNT1 gene and its involvement in various diseases.
- GeneTests: GeneTests is a database of genetic testing laboratories, providing information on laboratories offering KCNT1 gene tests. This resource can help individuals in need of genetic testing for KCNT1 gene variants find appropriate testing facilities.
Tests Listed in the Genetic Testing Registry
The KCNT1 gene is associated with various conditions, including frontal lobe epilepsy and migrating partial seizures of infancy. To identify changes in this gene and related variants, genetic testing is available.
The Genetic Testing Registry catalogs various tests that can be done to analyze the KCNT1 gene. These tests can help diagnose and determine the risk of developing conditions linked to this gene.
Here are some of the tests listed in the registry:
- Nocturnal Frontal Lobe Epilepsy, KCNT1-Related
- Epilepsy, Autosomal Dominant, with Nocturnal Frontal Lobe Seizures
- Epilepsy, Benign Neonatal, KCNT1-Related
- Epileptic Encephalopathy, Early Infantile, KCNT1-Related
- Seizures, Benign Familial Infantile, KCNT1-Related
These tests analyze the genetic components and protein channels associated with the KCNT1 gene. They can detect changes or variants in the gene that may be linked to various diseases and conditions.
For additional information on these tests and related conditions, the Genetic Testing Registry provides references to scientific articles, databases, and resources such as OMIM and PubMed. These resources can generate citations and provide further insights into the genetic testing process.
If tests indicate a variant in the KCNT1 gene, it is recommended to consult with a healthcare professional for proper diagnosis and guidance on treatment options.
Scientific Articles on PubMed
The KCNT1 gene is associated with various genetic conditions, including Infantile Epileptic Encephalopathy 14 (IEE14) and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). Mutations in this gene can lead to the development of seizures and other epileptic symptoms.
Several scientific articles on PubMed have explored the role of the KCNT1 gene in epilepsy and related disorders. These articles provide valuable information on the genetic components, functional changes, and transport channels associated with this gene.
One study listed on PubMed delves into the genetic changes and malignant migratory partial seizures of infancy (MMPSI) caused by KCNT1 gene variants. The study investigated the clinical and genetic characteristics of patients with MMPSI and identified KCNT1 gene mutations in the majority of cases.
Another article identified KCNT1 gene mutations in patients with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. The study explored the pathogenic variants in the KCNT1 gene and their association with the recurrent seizures characteristic of this disorder.
The KCNT1 gene has also been implicated in other epileptic disorders, including genetic epilepsy with febrile seizures plus (GEFS+). Several articles on PubMed discuss the genetic testing and clinical characteristics of patients with GEFS+ associated with KCNT1 gene mutations.
In addition to epilepsy, the KCNT1 gene has been linked to other conditions such as Intellectual Developmental Delay and Nocturnal Frontal Lobe Epilepsy. PubMed provides a wealth of articles and references related to these conditions and their association with KCNT1 gene mutations.
Researchers have also investigated the functional changes of the KCNT1 protein and its role in ion channel transport. Several articles on PubMed discuss the channel properties of KCNT1 and its impact on neuronal excitability.
To access the scientific articles mentioned above and other related resources, researchers can visit PubMed and search for KCNT1 gene-related articles using keywords such as “KCNT1 gene,” “epilepsy,” and “genetic mutations.”
The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for accessing information on the KCNT1 gene and its associated diseases. OMIM provides a comprehensive catalog of genes and genetic disorders, including references to scientific articles and genetic testing resources.
In conclusion, PubMed and other databases offer a wide range of scientific articles and resources related to the KCNT1 gene and its implications in various genetic conditions. These articles provide valuable insights into the genetic components, functional changes, and clinical characteristics of diseases associated with KCNT1 gene mutations.
Catalog of Genes and Diseases from OMIM
The KCNT1 gene is a component of the transport protein that is responsible for generating electrical signals in the brain. Mutations in this gene can lead to several conditions, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and malignant migrating partial seizures in infancy (MMPSI). These conditions are characterized by recurrent and increased seizures, delayed development, and other neurological symptoms.
Testing for genetic changes in the KCNT1 gene can be done to diagnose and confirm these conditions. Several resources are available for more information and testing, including the Online Mendelian Inheritance in Man (OMIM) database. The OMIM database provides a catalog of genes and diseases, along with additional scientific articles, references, and resources related to the KCNT1 gene and its associated conditions.
OMIM is a valuable tool for healthcare professionals and researchers, providing comprehensive information on various genetic conditions. It includes a citation system for referencing articles and references, and also links to other databases such as PubMed.
The catalog of genes and diseases from OMIM provides a centralized source of information on the KCNT1 gene and its related disorders. It lists the various names and aliases of the gene, as well as the specific conditions and diseases associated with mutations in this gene.
Several articles and scientific studies have been published on the KCNT1 gene and its role in epilepsy and other conditions. These studies have contributed to a better understanding of the gene’s function and its implications in neurological disorders. The OMIM catalog provides easy access to these articles through clickable links.
For healthcare professionals and researchers, the OMIM catalog serves as a valuable resource for genetic testing, diagnosis, and treatment planning. It allows for easy access to relevant information and resources, enhancing the understanding and management of KCNT1 gene-related conditions.
Gene and Variant Databases
There are several gene and variant databases that provide information on the KCNT1 gene and its related variants. These databases serve as valuable resources for researchers and clinicians working on genetic disorders associated with the KCNT1 gene.
Online Mendelian Inheritance in Man (OMIM)
- OMIM is a comprehensive database that provides information on human genes and genetic disorders
- KCNT1 gene is listed on OMIM along with related diseases and variants
- This database contains information on the clinical features, inheritance patterns, and molecular basis of genetic disorders
- OMIM provides links to scientific articles and other resources for further reading
PubMed
- PubMed is a widely used database in the scientific community for accessing biomedical literature
- It contains a vast collection of articles related to the KCNT1 gene and its associated diseases
- Researchers can use PubMed to find relevant articles on the KCNT1 gene and its role in epilepsy and other conditions
- The database provides citation references and links to full-text articles
KCNQ2 and KCNT1 Gene Variant Database
- This database specifically focuses on genetic variants in the KCNQ2 and KCNT1 genes
- It provides information on the functional consequences of these variants and their association with diseases like epilepsy
- Researchers and clinicians can access this database to find information on recurrent or novel variants in the KCNT1 gene
- The database also includes information on variant classification and the impact of specific genetic changes on protein function
Epilepsy Gene and Variant Database
- This database is dedicated to epilepsy-related genes and variants
- The KCNT1 gene is included in this database along with other genes associated with epilepsy
- It provides information on the genetic basis of epilepsy, inheritance patterns, and clinical features
- Researchers and clinicians can use this database to generate a list of genes for testing in patients with epilepsy
In conclusion, gene and variant databases play a crucial role in providing valuable information on the KCNT1 gene and its related diseases. These databases serve as important resources for researchers, clinicians, and individuals interested in understanding the genetic components of epilepsy and other conditions.
References
- Gene – KCNT1 – this is the gene related to the topic.
- Health testing – on KCNT1 gene can help identify potential diseases.
- Epilepsy – nocturnal seizures and other related diseases can be caused by changes in KCNT1.
- Protein – KCNT1 gene can generate a protein that is essential for various physiological components.
- Resources – OMIM, PubMed, and other databases provide additional information on KCNT1 and related genes.
- Articles – Several scientific articles have been published on the topic of KCNT1 and its role in certain conditions.
- Migrating partial seizures of infancy – a genetic disorder caused by changes in KCNT1.
- Malignant migrating partial seizures of infancy – a more severe form of the condition associated with KCNT1.
- Tests – Genetic tests can be conducted to identify changes in the KCNT1 gene.
- Autosomal dominant nocturnal frontal lobe epilepsy – a condition linked to KCNT1 mutations.
- Registry – A registry for KCNT1 mutations and associated conditions.