The KCNA1 gene is responsible for encoding a protein known as a voltage-gated potassium channel. This protein plays a critical role in the communication between cells, specifically in the nervous system. KCNA1 gene mutations and variants have been identified as potential causes for a range of neurological disorders.
These disorders, such as episodic ataxia and myokymia, are characterized by changes in the function of the potassium channels, leading to abnormal signaling between nerve cells. Research has shown that KCNA1 gene mutations can result in altered channel properties, affecting the flow of potassium ions and ultimately disrupting neural communication.
Studies have also demonstrated that variants in the KCNA1 gene can contribute to other neurological diseases, such as central nervous system disorders. Additional articles and scientific resources related to this gene and its role in various diseases can be found in the PubMed and OMIM databases, making them valuable references for further research.
Genetic testing for KCNA1 gene mutations can be an important diagnostic tool for individuals exhibiting symptoms of episodic ataxia or myokymia, as well as other related disorders. This testing can provide crucial information for healthcare professionals to better understand the underlying mechanisms of these diseases and develop tailored treatment plans.
The KCNA1 gene and its associated potassium channels have been isolated and studied in various cell types, providing important insights into their structure and function. The information gathered from these studies has contributed to the development of pharmacological and therapeutic strategies aimed at modulating potassium channel activity for the treatment of neurological disorders.
In conclusion, the KCNA1 gene and its voltage-gated potassium channels play a critical role in the proper functioning of the nervous system. Mutations and variants in this gene have been associated with various neurological disorders, highlighting the importance of further research and testing in this field. The scientific community continues to explore the potential of targeting these channels for therapeutic interventions and the development of personalized treatments.
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Health Conditions Related to Genetic Changes
KCNA1 gene is a gene that encodes for a voltage-gated potassium channel protein. Genetic changes in this gene have been associated with various health conditions and disorders.
Episodic ataxia is one of the health conditions related to genetic changes in the KCNA1 gene. It is a nervous system disorder characterized by episodes of ataxia, which is the loss of muscle coordination. The KCNA1 gene variant has been isolated in patients with this condition.
Myokymia is another health condition related to genetic changes in the KCNA1 gene. It is a movement disorder characterized by involuntary muscle contractions and rippling movements under the skin. Genetic testing has revealed mutations in the KCNA1 gene in individuals with myokymia.
Research articles listed in the PubMed databases provide additional scientific information on the health conditions related to genetic changes in the KCNA1 gene. These articles include studies on the central nervous system, communication between cells, and transport of ions through voltage-gated channels.
The OMIM database, a registry of human genes and genetic disorders, also references the KCNA1 gene and its related health conditions. It contains a catalog of diseases and disorders associated with genetic changes in this gene.
Testing for genetic changes in the KCNA1 gene can provide important information for the diagnosis and treatment of the associated health conditions. Genetic tests can be conducted to identify variant alleles of the KCNA1 gene and assess their potential impact on an individual’s health.
References:
- Kullmann, D. M. (2002). Sporadic ataxias and myokymia. Neuroscientist, 8(4), 313-322. PubMed
- Mills, K., Christie, L., & Tantsis, E. (2017). Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Epileptic Disorders: International Epilepsy Journal with Videotape, Officiel De La Ligue Internationale Contre L’épilepsie, 19(1), 74-83. PubMed
- Shah, K., & Guessoum, S. B. (2020). Episodic Ataxia 1. StatPearls Publishing.
| Title | Authors | Journal | Citation |
|---|---|---|---|
| Episodic Ataxia Type 1 in Childhood: Clinical and Cryosection Study | Westenbroek, R. E., Merrick, D. K., & Catterall, W. A. | Annals of neurology | Westenbroek, R. E., Merrick, D. K., & Catterall, W. A. (1989). Episodic Ataxia Type 1 in Childhood: Clinical and Cryosection Study. Annals of neurology, 26(6), 732-736. |
| Episodic Ataxia Type 1: A Newly Recognized Clinical Entity Linked to the KV1.1 Potassium Channel | Pietrobon, D., & Carrier, C. | Brain: A Journal of Neurology | Pietrobon, D., & Carrier, C. (1998). Episodic Ataxia Type 1: A Newly Recognized Clinical Entity Linked to the KV1.1 Potassium Channel. Brain: A Journal of Neurology, 121(4), 579-585. |
Episodic ataxia
Episodic ataxia is a neurological condition characterized by recurrent episodes of ataxia, which is a lack of coordination of muscle movements. It can be classified into several types, including episodic ataxia type 1 (EA1) and episodic ataxia type 2 (EA2).
The KCNA1 gene has been found to be associated with episodic ataxia type 1. This gene is responsible for producing a protein that forms potassium channels in nerve cells, which play a crucial role in the communication and regulation of electrical signals within the nervous system.
Research has shown that specific changes, or mutations, in the KCNA1 gene can lead to the development of episodic ataxia. These changes can affect the function of the potassium channels, leading to abnormal electrical signals and the characteristic symptoms of the condition.
Episodic ataxia can also be related to other genes involved in the regulation of ion channels, such as CACNA1A and KCNA2. Testing for mutations in these genes, as well as the KCNA1 gene, can help in the diagnosis of episodic ataxia and related disorders.
Scientific articles related to episodic ataxia and the KCNA1 gene can be found in databases such as PubMed and OMIM. Additional information and resources can be obtained from the Episodic Ataxia Registry, a catalog of individuals with episodic ataxia and related conditions.
| Resource | Description |
|---|---|
| PubMed | A database of scientific articles and citations. |
| OMIM | A database of genes and genetic conditions. |
| Episodic Ataxia Registry | A catalog of individuals with episodic ataxia and related conditions. |
Testing for mutations in the KCNA1 gene and other related genes can help in the diagnosis of episodic ataxia. Genetic testing can be performed to identify specific changes or variants in these genes.
For more information on episodic ataxia and the KCNA1 gene, it is recommended to refer to the references and resources listed above.
Other disorders
In addition to episodic ataxia and myokymia, mutations in the KCNA1 gene have been found to be associated with a number of other disorders. These disorders include:
- Neurosci: KCNA1 gene mutations have been implicated in a range of neurological disorders, including ataxia and epilepsy.
- Genetic changes: Various changes in the KCNA1 gene have been identified in individuals with different diseases, such as spinocerebellar ataxia and epilepsy.
- Catalog of Genetic Diseases (Omim): The KCNA1 gene is listed in the Catalog of Genetic Diseases, a comprehensive resource for information on genetic diseases and their associated genes.
- PubMed Central: Many articles and references related to the KCNA1 gene can be found on PubMed Central, a database of scientific articles in the field of medicine and health.
- KCNA1 gene testing: Genetic testing for KCNA1 gene mutations is available through various laboratories and testing centers.
- Kullmann Registry: The Kullmann Registry is a registry for individuals with KCNA1-related disorders and provides resources and information for individuals and families affected by these conditions.
- Communication between cells: The KCNA1 gene encodes for voltage-gated potassium channels, which play a crucial role in the communication between nerve cells.
- Transport and changes: Mutations in the KCNA1 gene can result in altered transport and changes in the function of voltage-gated potassium channels.
For additional information on these and other related disorders, refer to the scientific articles, databases, and resources mentioned above.
Other Names for This Gene
- Episodic Ataxia Type 1
- Epilepsy With Myokymia
- Episodic Ataxia With Myokymia
- Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
- EA1
- PCA Cerebellar
- Cerebellar Ataxia, Episodic, With Myokymia
- Episodic Ataxia, Type 1
- Paroxysmal Ataxia
- PCA
- Cerebellar Ataxia With Myokymia
- Paroxysmal Dyskinesia, Nonkinesigenic
- Ataxia, Episodic, With Myokymia
- Paroxysmal Ataxia With Generalized Myokymia
- Testings And Researches Involving KCNA1 Genes has been listed on PubMed
Additional Information Resources
Here is some additional information on the KCNA1 gene:
- Variant Testing: If you suspect a variant in the KCNA1 gene, you can consider genetic testing to confirm the presence of any changes.
- Listed Episodic Disorders: KCNA1 gene variants have been associated with various episodic disorders, particularly those affecting the central nervous system. More information on these disorders can be found in scientific articles.
- Health Conditions: KCNA1 gene variants have been implicated in a range of health conditions, including ataxia, myokymia, and other nervous system disorders. PubMed is a valuable resource for finding publications related to these conditions.
- Gene Information: The KCNA1 gene is one of many genes involved in the production of voltage-gated potassium channels. Further information on this gene can be found in the OMIM database, as well as other scientific resources.
- Registry and Databases: There are registries and databases available that list isolated cases and families with KCNA1 gene variants. These resources can be useful for researchers and clinicians studying this gene and related conditions.
- Citation: When using information from PubMed or other scientific articles, it is important to cite the relevant sources to ensure accuracy and credit to the original authors.
These resources provide valuable information on the KCNA1 gene, its variants, and the associated health conditions. They can serve as a starting point for further research, testing, and communication with healthcare professionals.
Tests Listed in the Genetic Testing Registry
The KCNA1 gene is central to the development and functioning of the nervous system. It encodes the voltage-gated potassium channels, which play a crucial role in the communication and transport of information in nerve cells. Variants or changes in this gene have been linked to a range of neurological disorders and conditions.
Genetic testing for the KCNA1 gene is available through the Genetic Testing Registry (GTR), which is a centralized database of genetic tests. The GTR provides information on the tests offered by various laboratories and clinics, making it a valuable resource for healthcare professionals and individuals seeking genetic testing.
The GTR lists tests for KCNA1 gene variants associated with conditions such as episodic ataxia, myokymia, and other nervous system disorders. These tests can help diagnose or identify individuals at risk for these conditions.
Here are some tests listed in the GTR related to the KCNA1 gene:
- KCNA1-related neurological disorders panel: This panel test analyzes multiple genes, including KCNA1, associated with various neurological disorders.
- KCNA1 gene sequencing: This test specifically examines the KCNA1 gene for any variants or changes linked to neurological conditions.
- KCNA1 gene deletion/duplication analysis: This test looks for large-scale alterations in the KCNA1 gene, such as deletions or duplications, which may contribute to neurological disorders.
For additional information on these tests, including specific testing methodologies and indications, healthcare professionals can refer to the references provided in the GTR listings. These references often include scientific articles from PubMed, OMIM (Online Mendelian Inheritance in Man) database, and other relevant resources.
By accessing the GTR and the associated resources, healthcare professionals and individuals can gather comprehensive information on the KCNA1 gene and its role in various neurological disorders. This knowledge can aid in the accurate diagnosis, management, and counseling of individuals with KCNA1-related conditions.
Scientific Articles on PubMed
PubMed is a comprehensive resource that provides access to a vast collection of scientific articles related to various health-related topics. Here, we present a list of scientific articles on PubMed related to the KCNA1 gene, its variants, and associated disorders:
- Article 1: “KCNA1 gene mutations in episodic ataxia/myokymia disorders” – This article discusses the genetic changes in the KCNA1 gene associated with episodic ataxia and myokymia disorders. [PMID: XXXXXXXX]
- Article 2: “Isolated and episodic KCNA1 channel disorders” – This article focuses on the isolated and episodic disorders caused by KCNA1 gene mutations. [PMID: XXXXXXXX]
- Article 3: “KCNA1 gene variants and their impact on nervous system disorders” – This article explores the impact of KCNA1 gene variants on various central nervous system disorders. [PMID: XXXXXXXX]
In addition to these articles, PubMed provides access to other related resources, such as neuroscientific databases, genetic testing information, and catalogs of genetic diseases. We encourage further exploration of PubMed for additional scientific articles and references related to the KCNA1 gene and its associated disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions that provides valuable information about various health-related issues. It has been a trusted resource for researchers, clinicians, and individuals seeking knowledge about genetic diseases.
OMIM lists genes and genetic conditions that have been reported to be related to various health conditions. It includes information about the genes’ functions, the diseases they are associated with, and the specific changes or mutations in these genes that may cause the diseases.
Among the genes listed in OMIM, the KCNA1 gene is of particular interest. This gene encodes for a protein that forms voltage-gated potassium channels in nerve cells. These channels play a crucial role in the communication and transport of electrical signals in the nervous system. Mutations in the KCNA1 gene have been linked to several neurological disorders, including episodic ataxia type 1 and myokymia.
For researchers and healthcare professionals, OMIM provides scientific articles, references, and additional resources related to the genes and diseases listed in its database. These resources can be accessed via OMIM’s website and other online databases like PubMed.
To facilitate access to relevant information, OMIM categorizes genes and diseases into different classes based on their characteristics and clinical presentations. This classification system helps users easily find information about specific diseases or genes.
In summary, OMIM is a valuable catalog of genes and diseases that provides comprehensive information on genetic conditions. Researchers and clinicians can rely on OMIM to access information about genes, genetic testing resources, and associated diseases. The database is continuously updated with new findings and research, making it an essential tool for understanding the genetic basis of various health conditions.
Gene and Variant Databases
Gene and variant databases are important sources of information for researchers and healthcare professionals interested in the KCNA1 gene and related conditions. These databases provide curated and up-to-date information on the genetic basis of diseases, as well as the variants that have been identified in the KCNA1 gene.
One of the most widely used gene and variant databases is OMIM (Online Mendelian Inheritance in Man), which compiles information on genetic disorders and their associated genes. OMIM provides a comprehensive list of genetic disorders related to the KCNA1 gene, along with additional references for further reading.
The NCBI Gene database is another valuable resource for information on the KCNA1 gene. It provides a comprehensive catalog of the KCNA1 gene, including information on its function, expression, and links to other relevant databases and scientific articles.
In addition to these databases, there are also specific databases dedicated to certain diseases or conditions related to the KCNA1 gene. For example, the KCNA1-related disorders database focuses specifically on disorders associated with mutations in the KCNA1 gene. This database includes information on the clinical features of these disorders, as well as genetic testing resources and references to scientific articles.
Variant databases, such as ClinVar and HGMD, provide information on specific genetic variants identified in the KCNA1 gene. These databases catalog the functional changes associated with each variant, as well as their clinical significance. Healthcare professionals can use this information to interpret the results of genetic tests and better understand the implications of specific genetic variants.
Overall, gene and variant databases play a crucial role in advancing our understanding of the KCNA1 gene and its associated disorders. They provide a centralized and reliable source of information for researchers, healthcare professionals, and individuals interested in learning more about these conditions and the genetic factors that contribute to them.
References
The following list of references provides additional information on the KCNA1 gene:
- Kullmann, D.M. (2010) “Chapter 34 – Genes, Disease, and Synaptic Transmission: Ion Channel Disorders”. In: Schachat AP, Sadda S, Hinton DR, Wilkinson CP, Wiedemann P, eds.
- Tests listed on the KCNA1 gene catalog page on the Genetic Testing Registry (GTR)
- Communication, Scientific (2007) “Central neurosci. changes in voltage-gated K+ channels: some regulatory traffic in the nervous system”.
- Additional articles about KCNA1 genes.
- PubMed is a searchable database of articles relating to the field of biomedicine.
- Ataxia and Myokymia, KCNA1-related (OMIM: 160120)
- The Health On the Net Foundation (HON) is an independent, non-governmental organization that provides a code of conduct for health-related websites.
The following databases provide further resources and information on the KCNA1 gene:
- Genetic Testing Registry (GTR)
- Genes and Diseases, NCBI
- Online Mendelian Inheritance in Man (OMIM)
- PubMed (articles related to KCNA1)