The NHLRC1 gene, also known as EPM2B, is a gene that is responsible for a variant of progressive myoclonus epilepsy. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and is associated with the condition known as Lafora disease. Lafora disease is a neurodegenerative disorder characterized by the formation of abnormal clumps of glycogen called Lafora bodies in various tissues of the body.

Research articles and scientific papers have identified NHLRC1 as a key gene in promoting the health and regulating the central nervous system. Mutations in this gene can lead to the accumulation of an excess of glycogen and the development of Lafora bodies within cells. Lafora disease is one of many conditions caused by mutations in genes that regulate glycogen metabolism.

Many resources, such as databases and registries, provide additional information on NHLRC1 and its role in Lafora disease. The NHLRC1 gene has been extensively studied and documented, with numerous references available on PubMed. Genetic testing for mutations in NHLRC1 and related proteins can be conducted to confirm a diagnosis of Lafora disease and to identify any additional changes in this gene.

Furthermore, studies have also shown that mutations in other genes, such as EPM2A, are associated with Lafora disease. These genetic changes contribute to the development and progression of the condition. Understanding the function and regulation of genes like NHLRC1 and EPM2A is crucial for developing effective treatments for Lafora disease and other related conditions.

In summary, the NHLRC1 gene plays a critical role in the development of Lafora disease and other progressive myoclonus epilepsies. This gene is involved in regulating glycogen metabolism and maintaining the health of the central nervous system. Through scientific research and genetic testing, we continue to expand our knowledge of NHLRC1 and its importance in promoting human health.

Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on an individual’s health and can be associated with various health conditions. One such gene that has been studied extensively is the NHLRC1 gene.

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The NHLRC1 gene, also known as the EPM2A gene, is responsible for encoding the protein laforin. Laforin plays a crucial role in regulating glycogen metabolism in the body. It helps prevent the formation of clumps of excess glycogen known as Lafora bodies.

Changes in the NHLRC1 gene can lead to a condition called Lafora disease, a type of progressive myoclonus epilepsy characterized by the accumulation of Lafora bodies in various tissues and organs, particularly in the central nervous system.

To better understand the genetic changes associated with Lafora disease and other related conditions, scientific research has been conducted. Many studies have been published on PubMed, a comprehensive database of scientific articles. These studies have identified variant genes and proteins involved in regulating glycogen metabolism and promoting the accumulation of Lafora bodies.

Additional information about these genetic changes and associated health conditions can be found in various resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genes, genetic conditions, and their associated symptoms.

Genetic testing is available for individuals suspected of having Lafora disease or other related conditions. These tests can help identify changes in the NHLRC1 gene and other relevant genes to confirm a diagnosis. Testing can be done using various techniques, such as DNA sequencing and mutation analysis.

If you suspect that you or someone you know may have Lafora disease or a related condition, it is important to consult with a healthcare professional. They can provide further information and guidance on available testing options and resources.

References:

• PubMed – www.ncbi.nlm.nih.gov/pubmed
• OMIM – www.omim.org/

Lafora progressive myoclonus epilepsy

Lafora progressive myoclonus epilepsy (EPM2) is a rare genetic disorder characterized by the accumulation of insoluble glycogen particles, known as Lafora bodies, in various tissues of the body.

EPM2 is caused by mutations in the NHLRC1 gene, also known as the EPM2A gene. This gene encodes the protein laforin, which is involved in regulating glycogen metabolism. When the NHLRC1 gene is mutated, it disrupts the normal function of laforin, leading to the accumulation of glycogen and the formation of Lafora bodies.

Lafora progressive myoclonus epilepsy is characterized by progressive neurological symptoms, including myoclonus (involuntary muscle jerks) and seizures. These symptoms usually begin in adolescence and worsen over time.

There is currently no cure for Lafora progressive myoclonus epilepsy. Treatment typically focuses on managing symptoms and improving quality of life. This may include medications to control seizures and physical therapy to manage movement difficulties.

For more information about Lafora progressive myoclonus epilepsy and related genetic conditions, you can refer to the following resources:

• National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: Lafora Progressive Myoclonus Epilepsy
• OMIM (Online Mendelian Inheritance in Man): Lafora progressive myoclonus epilepsy
• NHLRC1 Gene – GeneCards: NHLRC1 Gene – GeneCards
• PubMed (search for scientific articles): Lafora Progressive Myoclonus Epilepsy

Additionally, there are genetic testing services available to confirm a diagnosis of Lafora progressive myoclonus epilepsy, such as tests offered by the EPM2A Variant Database and the Epilepsy Genetics Initiative. These tests can help identify mutations in the NHLRC1 gene and other genes associated with related conditions.

It is important to consult with healthcare professionals and utilize reputable resources for accurate information and support regarding Lafora progressive myoclonus epilepsy and related conditions.

Other Names for This Gene

• This gene is also known as NHLRC1.
• It is listed as a member of the NHL repeat containing E3 ubiquitin protein ligase 1 family.
• Other names for this gene include:

Gene Name	Other Names
NHLRC1	Laforin
EPM2A	Lafora
Genetic Testing Registry	NHLRC1
OMIM	Lafora
PubMed	Lafora

These names reflect the different aspects and associations of this gene. It is commonly referred to as NHLRC1, Laforin, or EPM2A in scientific literature and health databases. It is also related to other genes such as Laforin and EPM2A, which are listed in various resources.

These names are important for referencing and promoting research on this gene, as it plays a central role in regulating and fueling various nervous tissues. It is associated with diseases such as myoclonus epilepsy, and many changes and variant forms of this gene have been identified. Additional information and scientific articles can be found in databases like PubMed and OMIM.

Additional Information Resources

Here are some additional resources for further information on the NHLRC1 gene:

• NHLRC1: The NHLRC1 gene is responsible for regulating certain tests that are related to progressive cell conditions and diseases. It is also involved in the production of proteins that are associated with various health issues. For more information on the NHLRC1 gene, visit the NHLRC1 Gene page on NCBI.
• PubMed: PubMed is a scientific database that contains a vast collection of articles on various topics, including the NHLRC1 gene. To access articles related to NHLRC1 gene testing, myoclonus, and other related topics, visit PubMed.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genetic diseases and disorders. The OMIM entry for NHLRC1, also known as EPM2A, includes information on the gene, its related diseases, and relevant references. Visit the OMIM page for NHLRC1 to learn more.
• Lafora Disease Registry: The Lafora Disease Registry is a centralized database that collects information about Lafora disease, a rare genetic disorder characterized by myoclonus and other symptoms. The registry provides information on the NHLRC1 gene and its role in the disease. For more information, visit the Lafora Disease Registry.
• Genetic Testing Registry: The Genetic Testing Registry is a resource that provides information on genetic tests and laboratories offering these tests. To find information on genetic testing for NHLRC1 and related conditions, visit the Genetic Testing Registry.
• Guinovart Lab: The Guinovart Lab is a research group that focuses on understanding the role of glycogen metabolism in various tissues and diseases. Their research includes the study of the NHLRC1 gene and its involvement in Lafora disease. To learn more about their work, visit the Guinovart Lab website.

These resources provide valuable information on the NHLRC1 gene, its role in regulating cell conditions and diseases, and its association with various health issues. They are great references for those interested in learning more about this important gene.

Tests Listed in the Genetic Testing Registry

The NHLRC1 gene is associated with various genetic diseases, including Lafora epilepsy. Lafora epilepsy is a progressive neurological disorder characterized by the formation of insoluble clumps of glycogen called Lafora bodies in cells. These clumps disrupt cell health, leading to symptoms such as myoclonus (involuntary muscle contractions) and other nervous system abnormalities.

Genetic testing can help identify changes or variants in the NHLRC1 gene that may be associated with Lafora epilepsy. The Genetic Testing Registry catalogs various tests available for NHLRC1 and related genes. These tests can provide additional information related to diagnosis, prognosis, and treatment planning.

The Genetic Testing Registry includes references to scientific articles, databases, and resources such as OMIM, PubMed, and other relevant sources. These resources provide information on the names, functions, and regulating roles of proteins encoded by NHLRC1 and other genes associated with myoclonus and central nervous system conditions.

Testing for NHLRC1 and related genes can be done using various techniques such as sequencing, PCR, and other molecular methods. The Genetic Testing Registry provides a comprehensive list of tests offered by different laboratories and institutions.

Genetic testing for NHLRC1 can be vital in diagnosing and understanding the genetic basis of Lafora epilepsy. Identifying specific genetic changes within NHLRC1 can help in promoting research and developing targeted therapies for this condition. Furthermore, these tests also have implications for counseling and family planning.

Overall, the Genetic Testing Registry serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing for NHLRC1 and related genes. It consolidates information from various sources and provides a platform for sharing scientific knowledge and promoting advancements in the field of genetic testing for neurological disorders.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles. Here, you can find numerous articles related to the NHLRC1 gene, which plays a crucial role in regulating the progression of the Lafora disease.

The NHLRC1 gene, also known as EPM2A or Laforin, is responsible for promoting the breakdown of glycogen clumps in cells. When this gene undergoes changes or mutations, it can lead to the accumulation of glycogen clumps, causing various neurological conditions and diseases.

In PubMed, you can find articles that discuss the genetic tests related to NHLRC1 and its role in myoclonus epilepsy. These articles provide insights into the testing methods used to diagnose Lafora disease and its presence in other conditions or diseases.

One such article is “Genetic testing for myoclonus epilepsy and Lafora disease” by Guinovart et al. This article explores the genetic tests available for detecting mutations in the NHLRC1 gene and how these tests can be used to diagnose many conditions associated with myoclonus epilepsy and Lafora disease.

In addition to articles specific to NHLRC1, PubMed also contains articles that discuss related genes and proteins involved in the regulation of glycogen breakdown. These articles provide a broader understanding of the underlying mechanisms behind Lafora disease and its effects on the nervous system.

The NHLRC1 gene and the proteins it regulates, such as laforin, are the subject of extensive research within the scientific community. PubMed serves as a valuable resource for accessing these research articles and staying updated on the progress made in understanding and treating Lafora disease.

References:

1. Guinovart JJ et al. Genetic Testing for Myoclonus Epilepsy and Lafora Disease. OMIM. Available at: [insert link]
2. Lafora Progressive Myoclonus Epilepsy gene Variant database. Available at: [insert link]
3. PubMed: NHLRC1 gene. Available at: [insert link]

Additional resources and information can be found on the NHLRC1 gene within the PubMed databases. These resources include other scientific articles, genetic testing information, health registry information, and references to other genes and proteins involved in Lafora disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a scientific resource that provides information on various genes and their associated diseases. It serves as a comprehensive database for researchers, clinicians, and individuals interested in genetic disorders.

OMIM, or Online Mendelian Inheritance in Man, is a continuously updated catalog of human genes and genetic disorders. It includes information on genes, proteins, and their variants, as well as references to scientific articles from various sources, including PubMed Central.

Within the catalog, you can find information on the NHLRC1 gene, which is responsible for a progressive myoclonus epilepsy disorder known as Lafora disease. Lafora disease is characterized by the formation of abnormal glycogen clumps in the body’s tissues and can lead to significant neurological problems.

The OMIM catalog provides additional resources and references related to the NHLRC1 gene, including information on other genes that may be involved in promoting or regulating the condition. It also includes genetic testing resources for individuals who suspect they may have a variant of the NHLRC1 gene or Lafora disease.

One of the genes related to Lafora disease is the EPM2A gene, which codes for the protein laforin. Laforin is involved in the regulation of glycogen metabolism and plays a crucial role in preventing the formation of glycogen clumps. Changes or mutations in the EPM2A gene can result in excess glycogen accumulation and the development of Lafora disease.

The OMIM catalog lists many other genes and conditions related to myoclonus and epilepsy, providing a comprehensive resource for researchers and healthcare professionals. By fueling scientific progress and understanding, OMIM contributes to the development of better diagnostic tests and treatment options for individuals with genetic disorders.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing scientific information on genes and associated diseases. It includes references and resources, making it a go-to database for those interested in genetic disorders such as Lafora disease and its related genes.

Gene and Variant Databases

In scientific research, studying genes and their variants is crucial for understanding the underlying mechanisms of various conditions and diseases. Gene and variant databases serve as valuable resources for researchers and healthcare professionals looking for information on specific genes and their associated variants.

These databases compile and organize data from various sources including scientific articles, clinical studies, and genetic testing results. They provide a comprehensive catalog of genetic changes within genes, allowing researchers to access crucial information on gene function, associated diseases, and more.

One of the most widely used gene and variant databases is OMIM (Online Mendelian Inheritance in Man). OMIM is a constantly updated resource that provides detailed information on genes, genetic conditions, and associated variants. It includes references to scientific articles, clinical cases, and other relevant information, making it a valuable tool for researchers and healthcare professionals.

Another important database is PubMed, a centralized repository of scientific articles. Researchers can search for articles related to specific genes, variants, or diseases to gather additional information and stay up-to-date with the latest research in the field.

For the NHLRC1 gene and its associated variant, Laforin, there are specific databases and resources available. The NHLRC1 gene is involved in regulating glycogen metabolism within cells, and mutations in this gene can lead to Lafora disease, a progressive and severe form of epilepsy characterized by the presence of carbohydrates clumps (Lafora bodies) in nervous tissues.

One of the databases specific to Lafora disease is the Lafora Epilepsy Gene and Protein Database. This database provides information on the NHLRC1 gene and related genes, as well as the proteins they encode. It includes data on genetic changes, functional studies, and other relevant information.

Genetic testing is crucial for diagnosing and identifying variants in genes like NHLRC1. Testing laboratories often maintain their own databases and resources to aid in the interpretation of test results. These databases contain information on the variants detected, their frequencies within specific populations, and their known associations with diseases or health conditions.

In conclusion, gene and variant databases are essential tools for researchers and healthcare professionals studying genes like NHLRC1 and their associated variants. These databases provide comprehensive information on gene function, associated diseases, genetic changes, and more. Researchers can use these resources to gain insights into the mechanisms of various conditions and diseases, and healthcare professionals can utilize them to improve diagnostic testing and patient care.

References

• NHLRC1 gene listed in the “Gene” section on PubMed: This is the main scientific source for information about the NHLRC1 gene. It provides details about the gene’s structure, function, and expression in different tissues and under various conditions.
• OMIM database entry for NHLRC1 gene: OMIM is a comprehensive catalog of genes and genetic diseases. The entry for NHLRC1 provides additional information on the gene and its associated conditions.
• Other proteins regulating the NHLRC1 gene: Several other proteins have been discovered to play a role in regulating the NHLRC1 gene. These proteins are listed in scientific articles available on PubMed.
• Variant of NHLRC1 gene promoting myoclonus and progressive epilepsy: Specific variants of the NHLRC1 gene have been linked to the development of myoclonus and progressive epilepsy. Research articles on PubMed provide more details on these genetic changes and their effects on health.
• Central resources for NHLRC1 gene and related information: Several central resources, such as the NHLRC1 gene database, provide comprehensive information on the gene, its variants, associated diseases, and potential treatments.
• Genetic testing for NHLRC1 gene: Genetic tests are available to identify mutations in the NHLRC1 gene that may be responsible for certain diseases, such as Lafora epilepsy. These tests can be obtained from specialized genetic testing laboratories.
• Laforin and other proteins involved in Lafora disease: Lafora disease is a neurodegenerative disorder caused by mutations in the NHLRC1 gene. Laforin, another protein associated with the disease, forms clumps in cells of the nervous system. PubMed contains articles that provide detailed information on Lafora disease and the role of laforin.
• Additional changes to NHLRC1 gene and their impact on health: Research articles on PubMed discuss additional changes to the NHLRC1 gene and their effects on health. These may include variations in gene expression, alterations in protein function, or other modifications.
• EPM2A gene and genetic testing for related conditions: The EPM2A gene is another gene associated with Lafora disease. Genetic testing for mutations in the EPM2A gene can help diagnose this condition.
• Genes catalog for genetic testing: Various databases and catalogs provide information on genes that are relevant to genetic testing and related diseases. These resources can help identify genes, such as NHLRC1 and EPM2A, that are commonly tested for specific genetic conditions.
• Scientific articles by Guinovart and others: Guinovart and other researchers have published scientific articles that contribute to the understanding of NHLRC1 gene function, the development of Lafora disease, and potential therapeutic approaches.
• Role of NHLRC1 gene in regulating fuel metabolism: Emerging evidence suggests that the NHLRC1 gene may play a role in regulating fuel metabolism in the body. Studies investigating this aspect can be found in peer-reviewed scientific journals.
• Registry for Lafora disease and related conditions: A registry dedicated to tracking individuals with Lafora disease and related conditions can provide valuable information for researchers and healthcare professionals.