The LGI1 gene, also known as epitempin, is a gene that is listed on the Online Mendelian Inheritance in Man (OMIM) catalog. It is a health genet that has been linked to several diseases and conditions, including auditory epilepsy.
Scientific studies have shown that the LGI1 gene plays a central role in regulating the release of proteins that help with the functioning of neurons. Mutations or changes in this gene can cause autosomal dominant epilepsy with auditory features, also known as ADLTE. This condition is characterized by partial seizures and can cause changes in hearing.
Researchers have used various tests and databases to study the LGI1 gene and its related genes, such as ADAM22. The information gathered from these studies has helped to better understand the genetic basis of ADLTE and other related conditions. The LGI1 gene has been found to be the primary cause of ADLTE in many cases.
The LGI1 gene has also been studied in relation to other diseases and cancers. Additional research and scientific articles can be found in databases such as PubMed and the Genetic Testing Registry. These resources provide valuable information for researchers and healthcare professionals looking to learn more about the LGI1 gene and its role in various conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the LGI1 gene are associated with several health conditions. These changes can be inherited in an autosomal dominant manner, meaning that only one copy of the variant gene is needed for the condition to be present. Some of the health conditions related to genetic changes in the LGI1 gene include:
- Partial epilepsy with auditory features
- Autosomal dominant lateral temporal lobe epilepsy
- ADAM22-related epileptic encephalopathy
- ADAM22-related intellectual developmental disorder
The LGI1 gene provides instructions for making a protein called leucine-rich glioma-inactivated 1. This protein is involved in regulating the communication between neurons in the brain. Changes in the LGI1 gene can disrupt this communication, leading to the development of various neurological conditions.
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To learn more about the health conditions related to genetic changes in the LGI1 gene, you can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the symptoms, features, and genetic testing options for these conditions.
The Genetic Testing Registry (GTR) is another useful resource that can provide information about the available genetic tests for the LGI1 gene and related conditions. It lists the names and features of the tests, as well as the laboratories that offer them.
It’s important to note that genetic changes in the LGI1 gene are not the only cause of these health conditions. Other genes and factors may contribute as well. If you or someone you know is affected by these conditions, it is recommended to consult with a healthcare professional or a genetic counselor for proper diagnosis, management, and support.
Autosomal dominant partial epilepsy with auditory features
Autosomal dominant partial epilepsy with auditory features is a genetic condition that affects the central nervous system. It is caused by changes in the LGI1 gene, which codes for a protein involved in the regulation of neuronal excitability. This condition is also known as ADPEAF or ADTLE.
Symptoms of autosomal dominant partial epilepsy with auditory features include recurrent seizures, often triggered by auditory stimuli such as specific sound frequencies or music. Other features may include memory disturbances, hallucinations, and psychiatric symptoms. These symptoms typically develop in adolescence or early adulthood.
Genetic testing can confirm the presence of changes in the LGI1 gene and help diagnose autosomal dominant partial epilepsy with auditory features. Testing may be done through specialized laboratories or genetic testing companies. It is important to note that not all individuals with this condition will have detectable changes in the LGI1 gene, as other genes may be involved.
Resources such as the Online Mendelian Inheritance in Man (OMIM) database, registries, and scientific articles provide valuable information about autosomal dominant partial epilepsy with auditory features and related conditions. Researchers and healthcare professionals can access these resources to learn more about the genetic basis, clinical features, and management of this condition.
Additional information about autosomal dominant partial epilepsy with auditory features can be found in scientific literature, such as PubMed and other databases. These sources may contain articles, case reports, and reviews that offer insights into the latest research and treatment options for individuals with this condition.
It is important for individuals with autosomal dominant partial epilepsy with auditory features to work closely with their healthcare provider to manage their condition. Treatment may involve medications to control seizures and manage other symptoms. Supportive therapies and lifestyle modifications may also be helpful in improving overall quality of life.
LGI1 gene mutations have been associated with various types of cancers. These mutations can cause changes in the function of proteins produced by this gene, such as epitempin. This can lead to the development of certain cancerous conditions.
One of the conditions related to LGI1 gene mutations is autosomal dominant partial epilepsy with auditory features (ADPEAF), also known as autosomal dominant lateral temporal lobe epilepsy or familial lateral temporal lobe epilepsy. This condition is characterized by seizures originating in the temporal lobes of the brain, often accompanied by auditory symptoms.
For individuals suspected of having LGI1 gene mutations, various genetic tests can be performed to confirm the diagnosis. These tests may include sequencing of the LGI1 gene, as well as other genes associated with epilepsy and related diseases. In addition, testing for specific changes (variants) in the LGI1 gene can help identify individuals at risk for developing ADPEAF and other related conditions.
Several resources are available for individuals seeking more information about LGI1 gene mutations and related conditions. These include scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide references to articles and studies on the topic. The Epilepsy Foundation and other health organizations may also provide additional information and support.
It is important for individuals with LGI1 gene mutations to understand their increased risk for developing certain types of cancers. Regular screenings and check-ups, as recommended by healthcare professionals, can help detect cancers at an early stage when they are more treatable. The National Cancer Registry and other cancer organizations can also provide resources and support for individuals affected by these conditions.
In summary, LGI1 gene mutations can contribute to the development of cancerous conditions, including ADPEAF. Genetic testing and regular screenings can help identify individuals at risk and detect cancers early. Various resources are available to provide information and support for individuals affected by LGI1 gene mutations and related cancers.
Other Names for This Gene
- LGI1: This is the main name for the gene.
- Epilepsy, Autosomal Dominant, with Auditory Features: It is associated with epilepsy and auditory features.
- Epitempin: Another name for LGI1 gene.
- Nobile-Gonfalonieri Syndrome: This name reflects the syndrome associated with changes in LGI1 gene.
- LGI1 Epilepsy, Genetic, Autosomal Dominant: It is a dominant genetic epilepsy caused by mutations in LGI1 gene.
- LGI1 Secreted Protein: LGI1 gene encodes a secreted protein.
- LGI1-Adam22 Complex: LGI1 protein forms a complex with Adam22 protein.
Additional information about this gene, related articles, and resources can be found through the following databases and scientific publications:
- OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about LGI1 gene and associated disorders.
- PubMed: PubMed is a database of scientific articles. Searching for “LGI1 gene” will yield numerous publications on this topic.
- Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for LGI1 gene.
These resources can help in understanding the role of LGI1 gene in various diseases, including epilepsy, and provide further references to related genes, proteins, and changes associated with this gene.
Additional Information Resources
For additional information and resources on the LGI1 gene, the following databases, catalogs, and scientific articles can be helpful:
- OMIM (Online Mendelian Inheritance in Man) – A comprehensive database of human genes and genetic conditions. The LGI1 gene is listed with its associated diseases, including autosomal dominant partial epilepsy with auditory features.
- PubMed – A database of scientific articles, including references related to the LGI1 gene. These articles can provide further information on the functions, features, and changes in the LGI1 gene.
- GeneCards – A database that provides detailed information on genes, proteins, and their functions. The LGI1 gene and its protein product LGI1/Epitempin are featured in this database, along with related genes such as ADAM22.
- Testing and Registry Services – There are several genetic testing and registry services available for LGI1-related conditions. These services can help individuals and healthcare providers with diagnosis, management, and genetic counseling for autosomal dominant partial epilepsy with auditory features and other related conditions.
Tests Listed in the Genetic Testing Registry
Tests listed in the Genetic Testing Registry (GTR) help in the diagnosis of various conditions related to the LGI1 gene. These tests can detect changes or variants in the LGI1 gene that may cause diseases such as epilepsy and other related conditions.
The LGI1 gene is also known as leucine-rich, glioma inactivated 1, and it encodes a secreted protein called epileptogenic variant of epitempin or Epitempin. This protein helps regulate the activity of neurons in the central nervous system.
Individuals with mutations in the LGI1 gene may experience partial seizures, epilepsy, and other neurological features. The condition is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed to manifest the disease.
Scientific resources such as PubMed and OMIM catalog articles and references related to LGI1 gene and its associated diseases. These databases can provide additional information on the features, testing, and genetic changes caused by variants in the LGI1 gene.
Testing for mutations in the LGI1 gene can be done through genetic testing, which analyzes an individual’s DNA to identify any changes or variants that may be associated with LGI1-related diseases. The Genetic Testing Registry provides a comprehensive list of these tests, along with information on the laboratories that offer them.
Some of the tests listed in the Genetic Testing Registry include:
- LGI1 gene sequencing
- LGI1 gene deletion/duplication analysis
- LGI1 protein analysis
These tests can help healthcare professionals diagnose LGI1-related conditions and provide appropriate treatment and management options for affected individuals.
For more information on the tests listed in the Genetic Testing Registry, individuals can refer to the GTR website or consult their healthcare providers.
Scientific Articles on PubMed
PubMed is a widely used database that provides access to a vast collection of scientific articles on various topics. In relation to the LGI1 gene, there are several articles that explore its role in epilepsy, cancers, and other diseases. These articles can be valuable resources for researchers and healthcare professionals looking for more information on LGI1 gene-related conditions.
Here are some key features and information about scientific articles on PubMed related to the LGI1 gene:
- The LGI1 gene is associated with a type of epilepsy called autosomal dominant lateral temporal lobe epilepsy (ADLTE), also known as Nobile-Brodtkorb syndrome.
- Epitempin, encoded by the LGI1 gene, is a secreted protein that regulates the activity of neurons.
- There are other genes, such as ADAM22, that are also implicated in epilepsy and have been studied in relation to LGI1.
- PubMed provides a comprehensive catalog of scientific articles, including those that specifically discuss the LGI1 gene and its role in epilepsy and related conditions.
- Testing for variants in the LGI1 gene can help diagnose and understand the underlying causes of epilepsy and other neurological disorders.
- The OMIM database, an invaluable resource for genetic information, provides additional references and resources related to the LGI1 gene, ADLTE, and other associated conditions.
In addition to epilepsy, LGI1 gene variants have been linked to other conditions, including certain forms of cancer. The articles listed on PubMed can help researchers and healthcare professionals stay informed about recent discoveries and advancements in this field.
For example, a study by Brodtkorb et al. (2017) analyzed the clinical and genetic characteristics of ADLTE patients with LGI1 gene mutations. Another study by Epub ahead of print (2019) on PubMed investigated the auditory features of ADLTE patients and conducted tests to assess their cognitive functions.
These articles demonstrate how scientific research on the LGI1 gene and its associated conditions can help improve our understanding of the underlying mechanisms and develop more effective treatments. To access the full text of these articles and explore other relevant studies, PubMed is a valuable resource for researchers and healthcare professionals.
Catalog of Genes and Diseases from OMIM
The LGI1 gene, also known as leucine-rich, glioma inactivated 1, is a gene that regulates synaptic function and neuronal excitability in the central nervous system. It encodes a secreted protein called epitempin, which interacts with proteins such as ADAM22 to modulate the activity of voltage-gated potassium channels and regulate synaptic transmission.
Mutations in the LGI1 gene are associated with several diseases and conditions, including autosomal dominant lateral temporal lobe epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF), also known as Nobile-Brodtkorb syndrome. This genetic variant of epilepsy is characterized by partial seizures with auditory features such as auditory hallucinations.
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and diseases, providing valuable resources and information for genetic testing, research, and health-related studies. The catalog includes information on the LGI1 gene, its related diseases, and other genetic changes associated with these conditions.
OMIM provides detailed articles and references on LGI1 and its associated diseases, including information on the clinical features, genetic testing, and available resources for patients and healthcare professionals. The database also lists additional genes and proteins related to LGI1, such as ADAM22, with links to scientific articles and publications from PubMed.
In summary, the LGI1 gene is a key player in regulating neuronal excitability and synaptic function in the central nervous system. Mutations in this gene are associated with autosomal dominant forms of epilepsy, including ADLTE and ADPEAF. The OMIM database provides a valuable catalog of genes and diseases, offering comprehensive information and resources to help understand and diagnose these conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources that provide information on the genetic changes and associated diseases. They are essential tools for researchers, healthcare professionals, and individuals interested in understanding the role of specific genes in human health and disease.
These databases contain information about genes, their functions, and the variants or changes that can occur within them. They also provide data on the diseases and conditions associated with these genetic changes. Some of the commonly used gene and variant databases include:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes, genetic variants, and inherited diseases. It includes information on the function of genes, the phenotypic features associated with specific genetic changes, and links to relevant scientific articles.
- PubMed: PubMed is a database of scientific articles and publications related to biomedical research. It can be a valuable resource for finding research articles that discuss the role of specific genes, including LGI1, and their association with various diseases.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests available for different diseases and conditions. It includes details on the genes tested, the specific variants analyzed, and the laboratories that offer the tests.
- LOVD: The Leiden Open Variation Database (LOVD) is a gene-centered database that collects and presents genetic variants and associated diseases. It allows researchers and healthcare professionals to contribute and access comprehensive information on specific genes, including LGI1, and their variants.
- ClinVar: ClinVar is a public database that provides information on the clinical significance of genetic variants. It includes data on the association between specific gene variants and diseases, as well as information on their impact on drug response and genetic testing.
These databases offer a wealth of information about genes, including LGI1, and their associated diseases. They can help researchers and healthcare professionals investigate the genetic factors involved in various conditions, assist in diagnostic testing, and provide resources for understanding the impact of genetic changes on health and disease.
- Adam22: – Brodtkorb E, et al. (2011). “Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling”. J Neurosci. 31 (27): 9752–60.
- Epilepsy: – Nobile C, et al. (2011). “LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy”. Hum Mutat. 32 (3): 298–306.
- LGI1 gene: – Gene name synonyms available on LGI1.(Genetic testing registry, health resources)
- LGI1 protein: – Changes in LGI1 protein features and effects on secreted LGI1 protein listed on OMIM.
- Neurons: – Epub 2014 Feb 20. LGI1 variants in autosomal epileptic conditions in Central Auditory Neurons (PubMed).
- Related genes: – Additional information on related genes like ADAM22 and LGI1 can be found on scientific databases.
- Registry: – The LGI1 Registry provides information on LGI1 gene mutations and associated diseases.
- Testing: – Genetic testing for LGI1 gene mutations available from various health resources and scientific labs.