The SCN8A gene is one of many genes that are associated with epilepsy and other related disorders. Mutations in this gene can lead to changes in the normal functioning of nerve cells, resulting in recurrent seizures and other symptoms of epilepsy. This gene is part of a larger signaling pathway called the Nav16 channel, which is involved in the control of electrical activity in the central nervous system.
SCN8A-related encephalopathy is a type of epilepsy that is caused by mutations in the SCN8A gene. This condition is characterized by seizures, intellectual disability, and other symptoms. The SCN8A gene is listed in various genetic databases, including OMIM, and has been the subject of scientific articles and references in PubMed, the central database for scientific publications.
Testing for SCN8A-related changes, or variants, in the SCN8A gene can provide important information for the diagnosis and management of epilepsy and related conditions. The SCN8A gene is also part of a larger catalog of genes associated with epilepsy and central nervous system disorders.
In addition to epilepsy, mutations in the SCN8A gene have been linked to other conditions, such as Lennox-Gastaut syndrome, a type of epilepsy characterized by multiple types of seizures. Further research and testing are needed to fully understand the relationship between SCN8A and these various diseases and conditions, as well as the potential for targeted treatments.
Health Conditions Related to Genetic Changes
Genetic changes related to the SCN8A gene can lead to various health conditions. This gene is responsible for encoding the Nav1.6 protein, which is a crucial component of the sodium channels in the nervous system.
One of the main health conditions related to genetic changes in the SCN8A gene is a type of epilepsy called SCN8A-related epilepsy. This condition is characterized by recurrent seizures that can start during infancy or early childhood. The seizures in SCN8A-related epilepsy are often resistant to antiepileptic drugs, and different types of seizures, including focal seizures and generalized tonic-clonic seizures, can occur.
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Other health conditions associated with genetic changes in the SCN8A gene include SCN8A-related neurodevelopmental disorder and Lennox-Gastaut syndrome, a severe form of epilepsy characterized by multiple seizure types and cognitive impairments.
For more information on these health conditions and the genetic changes in the SCN8A gene, there are several resources available:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders. The OMIM entry for SCN8A includes information on the different health conditions associated with genetic changes in this gene.
- PubMed: PubMed is a widely-used scientific literature database. Searching for “SCN8A” or “Nav1.6” in PubMed can provide access to research articles and scientific studies related to this gene and its associated health conditions.
- SCN8A Gene Variant Database: This database collects information on the different variants and mutations found in the SCN8A gene. It is a valuable resource for researchers and healthcare professionals studying the genetic changes in SCN8A and their impact on health.
- Central Nervous System Channelopathy Registry: This registry is dedicated to collecting information on genetic changes in various genes, including SCN8A, that affect the channels in the central nervous system. It provides a comprehensive resource for researchers and clinicians interested in studying and treating these conditions.
By exploring these resources, one can gain a better understanding of the health conditions related to genetic changes in the SCN8A gene and find valuable information to assist in the diagnosis, testing, and treatment of individuals with these disorders.
SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy is a type of epileptic syndrome that is caused by mutations in the SCN8A gene. This gene is responsible for encoding a sodium channel protein called Nav1.6, which plays a crucial role in the normal functioning of the nervous system.
In individuals with SCN8A-related epilepsy with encephalopathy, there are changes or mutations in the SCN8A gene that result in abnormal sodium channel signaling in the brain. These changes can lead to recurrent seizures and other neurological symptoms.
The symptoms of SCN8A-related epilepsy with encephalopathy vary from mild to severe and can include developmental delays, intellectual disability, movement disorders, and behavioral abnormalities. Seizures are a common feature of this syndrome, with different types of seizures listed in the scientific literature.
Diagnosis of SCN8A-related epilepsy with encephalopathy is usually confirmed through genetic testing, which involves analyzing the SCN8A gene for mutations. Additional testing, such as brain imaging and electroencephalogram (EEG) tests, may also be used to assess the extent of brain abnormalities and severity of epilepsy.
Management of SCN8A-related epilepsy with encephalopathy involves using antiepileptic medications to control seizures and other symptoms. However, the effectiveness of these treatments may vary among individuals, and a personalized approach to therapy is often necessary.
The SCN8A-related epilepsy with encephalopathy syndrome is rare, and its prevalence is not well-documented. The International SCN8A Registry has been established to collect and share information about individuals with SCN8A gene mutations and their associated clinical features.
References for this article can be found in scientific databases such as PubMed, as well as in other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional information on SCN8A-related epilepsy with encephalopathy and related genetic disorders.
Overall, SCN8A-related epilepsy with encephalopathy is an important topic in scientific research, as understanding the underlying genetic changes and their impact on neuronal signaling can provide valuable insights into the development of new diagnostic tests and therapeutic approaches for this condition.
Lennox-Gastaut syndrome is a type of epileptic syndrome. It is characterized by multiple types of seizures, cognitive impairment, and abnormal electroencephalography (EEG) patterns. This syndrome typically starts in childhood and continues into adulthood.
Patients with Lennox-Gastaut syndrome often have refractory epilepsy, meaning that seizures are difficult to control with standard antiepileptic drugs. They may also have developmental delays and intellectual disabilities.
There are multiple causes of Lennox-Gastaut syndrome, and one of them is related to the SCN8A gene. SCN8A-related Lennox-Gastaut syndrome is a specific subtype of the condition that is caused by mutations in the SCN8A gene, which encodes a protein that plays a role in signaling between nerve cells. These mutations lead to changes in ion channels in the nervous system, resulting in recurrent seizures and other symptoms associated with Lennox-Gastaut syndrome.
More information about SCN8A-related Lennox-Gastaut syndrome, including diagnostic testing and resources for patients and families, can be found in the SCN8A Registry. The registry is a central repository for information on SCN8A-related disorders and provides additional resources for those affected by this condition.
For scientific articles and references about SCN8A-related Lennox-Gastaut syndrome and related diseases, PubMed and OMIM are valuable resources. These databases list scientific articles, clinical reports, and genetic variant information for SCN8A-related epileptic encephalopathy and other conditions associated with changes in SCN8A and other genes.
In conclusion, Lennox-Gastaut syndrome is a complex epileptic syndrome that can have various genetic causes, including mutations in the SCN8A gene. Understanding the underlying genetic changes and their effects on ion channels and signaling in the nervous system is crucial for improving diagnosis, treatment, and management of this condition.
In addition to SCN8A-related Disorders, mutations in the SCN8A gene have also been associated with other health conditions. Some of these conditions are:
- Lennox-Gastaut Syndrome: This is a severe form of epilepsy characterized by recurrent seizures. It has been shown that changes in the SCN8A gene can contribute to the development of this syndrome.
- Central Nervous System Channelopathies: SCN8A gene mutations can lead to abnormalities in the normal functioning of channels in the central nervous system, resulting in various neurological disorders.
- Epileptic Encephalopathy: SCN8A gene mutations have been found in individuals with epileptic encephalopathy, a group of severe epileptic disorders characterized by early onset seizures and developmental delays.
These are just a few examples of the disorders associated with the SCN8A gene. Additional research is still being conducted to investigate the role of SCN8A and its variants in various health conditions. For more information on the genetic testing, research papers, and resources related to SCN8A-related disorders and other associated conditions, there are several databases and scientific articles available:
- Online Mendelian Inheritance in Man (OMIM): This database provides comprehensive information on genetic disorders, including SCN8A-related disorders.
- Pubmed: A database of scientific articles where you can find research papers and articles related to SCN8A and other related genes.
- The SCN8A Gene in the Human Gene Mutation Database (HGMD): This database catalogues known gene mutations and their association with diseases.
- The SCN8A Gene Testing Registry: A registry that provides information on available genetic testing options for SCN8A-related disorders.
These resources can be used to access further information, references, and scientific articles related to SCN8A and its role in various health conditions and diseases.
Other Names for This Gene
- SCN8A-related disorders: This gene is associated with a variety of health conditions and diseases.
- Nav1.6: SCN8A is also known as Nav1.6, as it encodes for a sodium ion channel protein called Nav1.6.
- Central nervous system sodium channel Nav1.6: SCN8A gene is involved in the signaling of sodium ions in cells of the central nervous system.
- Lennox-Gastaut syndrome: Some genetic mutations in the SCN8A gene have been associated with Lennox-Gastaut syndrome, a severe type of epilepsy characterized by recurrent seizures.
- SCN8A-encephalopathy: SCN8A-related disorders can also manifest as SCN8A-encephalopathy, a type of epilepsy with intellectual and developmental disabilities.
Additional names and variants associated with the SCN8A gene can be listed in databases such as OMIM (Online Mendelian Inheritance in Man) and scientific articles in PubMed. The SCN8A gene is part of a larger catalog of genes related to epilepsy and other nervous system disorders.
Additional Information Resources
In addition to the information provided in this article, the following resources may be helpful for further exploration of the SCN8A gene:
- Pubmed: Pubmed is a comprehensive database of scientific articles. Searching for “SCN8A gene” may provide additional articles and studies on the syndrome and related topics.
- OMIM: OMIM is an online catalog of human genes and genetic disorders. The entry for SCN8A provides detailed information on the gene, its variants, and associated conditions.
- Lennox-Gastaut Syndrome Foundation: The Lennox-Gastaut Syndrome Foundation is a nonprofit organization dedicated to improving the lives of individuals with Lennox-Gastaut Syndrome, a form of epilepsy often associated with SCN8A gene mutations. Their website offers information, resources, and support for individuals and families affected by this condition.
- Nav16 Registry: The Nav16 Registry is an international database that collects clinical and genetic information on individuals with SCN8A-related disorders. Health professionals and individuals with SCN8A-related conditions can participate in the registry to contribute to research and gain access to the latest information and resources.
These resources can provide further information on SCN8A-related epilepsy and other genetic disorders, testing for SCN8A gene mutations, and potential treatment strategies. It is important to consult with healthcare professionals and genetic counselors for guidance and personalized advice.
References and citations for this article can be found in the original scientific publications and databases listed in the resources above.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests that provides information about tests listed by genes, diseases, and other conditions. In the context of the SCN8A gene, the GTR lists tests related to SCN8A-related epilepsy, also known as Nav1.6-related epileptic encephalopathy. These tests aim to identify changes or mutations in the SCN8A gene that are associated with this type of epilepsy.
SCN8A-related epilepsy is a type of genetic epilepsy that is caused by mutations in the SCN8A gene. This gene encodes a sodium channel called Nav1.6, which plays a crucial role in the signaling of nervous cells. When there are changes or mutations in the SCN8A gene, it can disrupt the normal functioning of these channels, leading to recurrent seizures and other epilepsy-related symptoms.
The GTR provides a comprehensive list of tests that have been developed to detect changes or mutations in the SCN8A gene. These tests can help healthcare professionals diagnose SCN8A-related epilepsy and provide appropriate treatment options. They can also be used for genetic counseling and to assess the risk of passing on the condition to future generations.
Each test listed in the GTR is accompanied by detailed information, including the name of the test, the laboratory or provider offering the test, the type of testing, and additional resources such as scientific articles and databases. These resources can provide further information about the specific test and its validity.
For example, the GTR may include tests such as targeted variant analysis, which focuses on specific variants or changes in the SCN8A gene known to be associated with the syndrome. Another type of testing listed could be whole exome sequencing, which involves sequencing the entire protein-coding region of the genome to identify any changes or mutations in the SCN8A gene.
References to scientific articles and databases, such as PubMed and OMIM, are also provided in the GTR. These references can be used to access additional information about SCN8A-related epilepsy, the SCN8A gene, and other related disorders. They can also be used to explore the scientific basis of the tests listed in the GTR.
|Type of Testing
|Targeted Variant Analysis
|Genetic testing to analyze specific variants in the SCN8A gene
|Whole Exome Sequencing
|Genetic testing to sequence the protein-coding region of the genome
It is important to note that the information provided in the GTR is constantly evolving as new tests and research findings emerge. Therefore, healthcare professionals and individuals seeking genetic testing for SCN8A-related epilepsy should regularly consult the GTR for the most up-to-date information and resources.
Scientific Articles on PubMed
The SCN8A gene, also known as the Sodium Channel, Voltage-Gated, Type VIII, Alpha Subunit gene, is a central part of the nervous system. Mutations in this gene have been associated with a variety of health conditions, including Lennox-Gastaut syndrome, a severe form of epilepsy characterized by recurrent seizures. Scientific articles on PubMed provide valuable information about SCN8A-related disorders and the role of this gene in signaling pathways and neuronal function.
PubMed is a comprehensive catalog of scientific articles and references covering various aspects of SCN8A-related disorders. Researchers and healthcare professionals can access this database to find articles and studies related to genetic mutations in the SCN8A gene, as well as their association with epilepsy and other neurological conditions.
Some of the articles listed in PubMed provide in-depth analysis of the SCN8A gene and its role in epileptic encephalopathy. These articles explore the changes in neuronal signaling and the impact of SCN8A gene mutations on ion channels called Nav1.6 channels. They also discuss the diagnostic tests and genetic testing options available for SCN8A-related disorders.
In addition to PubMed, there are other resources such as Online Mendelian Inheritance in Man (OMIM) that provide further information and references on SCN8A-related disorders. These resources can be useful for researchers and healthcare professionals seeking to understand the genetic basis of epilepsy and related conditions.
Scientific articles on PubMed offer valuable insights into the genetic and molecular mechanisms underlying SCN8A-related disorders. They provide evidence for the association between SCN8A gene mutations and epilepsy and contribute to expanding our understanding of these conditions. The references and citations included in these articles can lead readers to additional resources and studies on SCN8A-related diseases.
Overall, scientific articles on PubMed play a crucial role in advancing our knowledge of SCN8A-related disorders and their impact on the nervous system. They provide researchers, healthcare professionals, and patients with essential information for diagnosis, treatment, and further research into epilepsy and related conditions.
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive registry of genetic disorders and associated genes. It provides a centralized repository of information related to various genetic conditions, including those related to the SCN8A gene.
OMIM is one of the most widely recognized and referenced databases in the field of genetics. It contains detailed information on genes, their functions, and their relation to different disorders.
For SCN8A-related disorders, OMIM provides a specific article that compiles the relevant information. This article lists the various types of SCN8A mutations that have been identified and their associated clinical features. It also includes references to scientific articles and studies that further explore the role of SCN8A in these conditions.
Some of the disorders associated with SCN8A mutations include central and peripheral epilepsies, Lennox-Gastaut syndrome, and recurrent seizure phenotypes.
The information on SCN8A-related disorders provided by OMIM can be used as a valuable resource for healthcare professionals, researchers, and individuals interested in the genetic basis of epilepsy and related conditions. OMIM offers a catalog of other genes and diseases as well, making it a comprehensive database for genetic information.
In addition to OMIM, other databases such as PubMed can be accessed for further scientific articles and studies on SCN8A-related disorders. These resources provide a broader understanding of the genetic and cellular mechanisms involved in epilepsy and related conditions.
It is important to note that the information provided by OMIM and other scientific databases is constantly evolving as new research emerges. Therefore, it is always recommended to refer to the most up-to-date sources for the latest information on SCN8A-related disorders and other genetic conditions.
Gene and Variant Databases
Gene and variant databases provide valuable information on the SCN8A gene and its associated variants. These databases serve as additional resources for researchers, clinicians, and individuals interested in studying or understanding SCN8A-related diseases.
The SCN8A gene is responsible for encoding the NaV1.6 sodium channel, which plays a crucial role in neuronal signaling. Mutations or changes in this gene can lead to SCN8A-related disorders, such as epileptic encephalopathy or Lennox-Gastaut syndrome, characterized by seizures and other neurological conditions.
Gene and variant databases contain extensive information on SCN8A-related genes and variants, including their names, types, classifications, and associated diseases. These databases are often organized in a catalog-like format, allowing easy navigation through the different genes and variants.
Some of the well-known gene and variant databases that include information on SCN8A are:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic disorders and their associated genes. SCN8A-related disorders, such as early infantile epileptic encephalopathy type 13 (EIEE13), are listed in OMIM.
- Genetics Home Reference: This online resource provides information on various genetic conditions, including SCN8A-related diseases. It offers descriptions, inheritance patterns, signs and symptoms, and other related information.
- Publications and scientific articles: Many scientific articles and publications discuss the SCN8A gene, its variants, and associated disorders. These articles often provide detailed insights into the molecular and cellular mechanisms underlying SCN8A-related diseases.
- The SCN8A Testing Registry: This registry collects and curates information on individuals with SCN8A changes or mutations. It serves as a valuable resource for researchers and clinicians involved in testing and diagnosing SCN8A-related conditions.
These databases and resources provide a wealth of information on the SCN8A gene and its variants, helping researchers and clinicians advance their understanding of SCN8A-related disorders and develop effective diagnostic tests and therapeutic interventions.
SCN8A gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/6335
Lennox-Gastaut syndrome. American Academy of Neurology. Retrieved from https://www.aan.com/Patients/Library/Patient-Safety-Tips/Lennox-Gastaut-Syndrome/
OMIM entry for SCN8A. Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/600702
SCN8A-related epilepsy. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/10418/scn8a-related-epilepsy
SCN8A – Sodium voltage-gated channel alpha subunit 8. UniProt. Retrieved from https://www.uniprot.org/uniprot/Q9UI33
Nav1.6 Sodium Channel SCN8A. SCN8A Epilepsy Mutation Database. Retrieved from http://scn8a.net/