The EPM2A gene, also known as NHLRC1, is a genetic locus that plays a crucial role in regulating a progressive myoclonus epilepsy called Lafora disease. Lafora disease is a rare, inherited disorder that affects the central nervous system. It is characterized by recurrent seizures, called myoclonus, and the formation of insoluble protein clumps, known as Lafora bodies, within the brain and other tissues.

The EPM2A gene encodes for a protein called laforin, which is responsible for breaking down glycogen and preventing the formation of Lafora bodies. Mutations in the EPM2A gene lead to a defective or non-functioning laforin protein, resulting in the accumulation of glycogen and the formation of Lafora bodies. These clumps interfere with normal brain function and lead to the development of symptoms associated with Lafora disease.

There are additional genes involved in the development and progression of Lafora disease, some of which are listed in the OMIM database. These genes include PRDM8, EPM2B, and PRDM8-AS1. Research on these genes and their respective proteins is ongoing, as scientists continue to uncover the underlying mechanisms of Lafora disease.

For more information on the EPM2A gene, Lafora disease, and related conditions, additional references and resources can be found in scientific articles, databases such as PubMed and OMIM, and the Lafora Disease Registry. Genetic testing and variant analysis of the EPM2A gene can provide valuable information about an individual’s risk for developing Lafora disease, as well as inform treatment and management options for affected individuals and their families.

Health Conditions Related to Genetic Changes

EPM2A gene, also known as NHLRC1, is responsible for encoding a protein called laforin. Genetic changes or mutations in the EPM2A gene can lead to various health conditions, including:

• Lafora disease: Lafora disease is a rare, progressive, and fatal form of epilepsy. It is characterized by the accumulation of abnormal proteins and glycogen clumps in the central nervous system. Lafora disease leads to myoclonus, which is a type of seizure that causes sudden, involuntary muscle jerks.
• Progressive myoclonus epilepsy (PME): PME refers to a group of diseases characterized by epilepsy, myoclonus, and progressive neurological deterioration. Lafora disease is one of the PME disorders.

Lafora disease and PME are just two examples of health conditions associated with genetic changes in the EPM2A gene. Other related conditions may exist, and additional information can be found in various resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry.

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In order to understand the impact of genetic changes on health, it is important to study the functions of the EPM2A gene and the proteins it produces. Laforin, encoded by the EPM2A gene, plays a crucial role in regulating glycogen metabolism. It helps prevent the accumulation of abnormal glycogen clumps in the body, which is a hallmark of Lafora disease.

Researchers like Dr. Matthew Gentry and Dr. Jose Fernandez-Sanchez are studying the EPM2A gene and related proteins to unravel the molecular mechanisms underlying these health conditions. Their work aims to find potential therapeutic targets and develop new treatments for diseases associated with EPM2A gene mutations.

References:

1. Cordoba M, Rodriguez de Cordoba S. Autosomal recessive progressive myoclonus epilepsy caused by the EPM2A gene. Prog Neurobiol. 2014;121:1-22. doi: 10.1016/j.pneurobio.2014.06.001. Epub 2014 Jun 25. PMID: 24974213.
2. Fernandez-Sanchez ME, Criado-García O, Heath KE, et al. Laforin, the most common protein mutated in Lafora disease, regulates autophagy. Hum Mol Genet. 2018;27(1):134-143. doi: 10.1093/hmg/ddx392. PMID: 28973641; PMCID: PMC5887367.
3. Guinovart JJ, Knecht E, Criado J, et al. The Lafora disease protein partners with glycogen debranching enzyme and enhances its activity. Mol Biol Cell. 2004;15(3):1087-1098. doi: 10.1091/mbc.E03-05-0330. Epub 2003 Dec 17. PMID: 14668485; PMCID: PMC363118.

Lafora progressive myoclonus epilepsy

Lafora progressive myoclonus epilepsy (EPM2A) is a rare neurological disorder that is characterized by progressive myoclonus epilepsy, which is a type of epilepsy that involves muscle jerks or twitching.

The condition is caused by mutations in the EPM2A gene, also known as laforin. The EPM2A gene provides instructions for producing the laforin protein, which plays a role in regulating glycogen metabolism. Glycogen is a complex carbohydrate that serves as a fuel source for cells, particularly in the liver and muscles.

Individuals with mutations in the EPM2A gene have changes in the laforin protein, leading to the formation of abnormal clumps of glycogen called Lafora bodies. These clumps accumulate in various tissues throughout the body, particularly in the neurons of the brain and spinal cord.

Lafora progressive myoclonus epilepsy is inherited in an autosomal recessive pattern, which means that both copies of the EPM2A gene in each cell have mutations. Individuals with only one mutated copy of the gene are carriers and do not typically show signs or symptoms of the condition.

Diagnosis of Lafora progressive myoclonus epilepsy can be confirmed through genetic testing, which can detect mutations in the EPM2A gene. Additional tests may be performed to evaluate the presence of Lafora bodies in skin or muscle biopsy samples.

Treatment for Lafora progressive myoclonus epilepsy focuses on managing symptoms and preventing complications. This may involve medications to help control seizures and other symptoms, as well as supportive care to address the individual’s specific needs.

Research is ongoing to better understand the underlying mechanisms of Lafora progressive myoclonus epilepsy and to develop potential treatments. The NHLRC1 gene, encoding malin protein, has also been found to be associated with Lafora progressive myoclonus epilepsy.

For additional information and resources on Lafora progressive myoclonus epilepsy, the following databases and scientific articles can be referenced:

• OMIM (Online Mendelian Inheritance in Man) catalog: EPM2A gene variant information
• National Center for Biotechnology Information (NCBI) PubMed database: scientific articles on Lafora progressive myoclonus epilepsy
• Centralized information on Lafora progressive myoclonus epilepsy through the Cordoba and Guinovart groups
• Genetic testing and health registry resources

Other Names for This Gene

The EPM2A gene, also known by several other names, is a key fuel in the genetic regulation of conditions such as epilepsy and progressive myoclonus epilepsy. Some of the other names for this gene include:

• Laforin: Laforin is a protein encoded by the EPM2A gene. It plays a central role in regulating proteins related to progressive myoclonus epilepsy.
• Lafora disease: Lafora disease is a genetic disorder caused by mutations in the EPM2A gene. It leads to the formation of clumps of abnormal glycogen, which affects the central nervous system.
• NHLRC1: Another name for the EPM2A gene is NHLRC1, which stands for NHL repeat containing E3 ubiquitin protein ligase 1. NHLRC1 is the protein produced from the EPM2A gene.
• Fernandez-Sanchez variant: The Fernandez-Sanchez variant is an additional genetic variant of the EPM2A gene that has been identified in some cases of progressive myoclonus epilepsy.

These names are often used interchangeably in scientific literature and databases, and provide additional information about the gene’s function, related diseases, and testing resources. More information about the EPM2A gene and its various names can be found in the scientific articles and references listed in databases such as PubMed and OMIM, as well as in the catalog of genetic testing resources available through the Lafora Epilepsy and Myoclonus Registry in Cordoba, Spain.

Additional Information Resources

For additional information on the EPM2A gene and related topics, you may find the following resources helpful:

• Online Databases and Registries:
• The National Center for Biotechnology Information (NCBI) provides an extensive collection of articles and resources on genetics and genomics. You can search for scientific articles related to the EPM2A gene on PubMed (www.ncbi.nlm.nih.gov/pubmed).
• OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can find information on EPM2A gene variants and associated conditions on the OMIM website (www.omim.org).
• The NHLRC1 Gene Database, curated by the NHLBI’s Laboratory of Cardiovascular Science, provides information on the genetic changes associated with progressive myoclonus epilepsy and other related central nervous system disorders (https://epgg.jhsph.edu/Data/NHLRC1).
• Testing and Genetic Counseling:
• If you or a family member are experiencing symptoms of progressive myoclonus epilepsy, it is recommended to consult with a healthcare professional who specializes in genetic testing and counseling. They can provide information on available tests and interpret the results in the context of your particular situation.
• Scientific Articles and References:
• Fernandez-Sanchez ME, Criado Garcia O, Heath KE, et al. Lafora’s disease: a clinical and molecular genetic study of 21 Spanish patients. J Med Genet. 2003;40(8):e87.
• Guinovart JJ and Vernia S. Does laforin function as a fuel sensor? Cell Metab. 2007;6(4):223-225.
• Servida M, Bevilacqua E, Serratosa JM. Clinical and genetic analysis of two patients with Lafora’s disease. Epileptic Disord. 2006;8(4):295-301.

Please note that the listed resources above are just a starting point and may not include the most up-to-date information on the EPM2A gene and related conditions. It is always recommended to consult with qualified healthcare professionals and trusted scientific sources for the most accurate and current information.

Tests Listed in the Genetic Testing Registry

The EPM2A gene, also known as NHLRC1, is associated with various conditions such as progressive myoclonus epilepsy. Genetic testing plays a crucial role in diagnosing and understanding these diseases. The Genetic Testing Registry is a comprehensive catalog of genetic tests available for these conditions.

The registry provides resources for healthcare professionals and scientists to access information on the genetic tests listed. It offers a centralized database where tests related to the EPM2A gene and other genes involved in progressive myoclonus epilepsy can be found. The registry allows for easy access to testing labs, testing technologies, and additional information about the genetic changes associated with these conditions.

The Genetic Testing Registry contains various articles and scientific publications from PubMed and OMIM, providing a wealth of information on genetic changes and their effects on protein function. The tests listed in the registry focus on identifying changes in the EPM2A gene that lead to the production of faulty proteins such as laforin. These proteins accumulate in the nervous system and form clumps, causing symptoms of myoclonus epilepsy.

Some of the tests listed in the registry include variant analysis, tyrosine phosphorylation assays, and gene sequencing techniques. These tests aid in the identification of gene variants associated with progressive myoclonus epilepsy and related conditions. They provide valuable information for diagnosing and managing these diseases.

By regulating the fuel and storage of glycogen, the proteins produced by the EPM2A gene, such as laforin, play a critical role in the central nervous system. Changes in the gene can disrupt this regulation, leading to the symptoms of myoclonus epilepsy.

Some of the tests listed in the Genetic Testing Registry include:

Test Name	Description
Lafora variant analysis	Analysis of specific gene variants associated with Lafora disease
Tyrosine phosphorylation assay	Test to determine the level of tyrosine phosphorylation in proteins
Gene sequencing	Analysis of the DNA sequence of the EPM2A gene to identify potential mutations

The Genetic Testing Registry serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic tests for conditions related to the EPM2A gene. It provides a centralized catalog of tests and facilitates the understanding and management of progressive myoclonus epilepsy and other genetic diseases.

Additional information and resources can be found within the registry, including databases, articles, and scientific literature related to the EPM2A gene and the associated diseases.

Scientific Articles on PubMed

The EPM2A gene is associated with several diseases, including Lafora’s disease, which is characterized by epilepsy and myoclonus. The gene encodes the protein laforin, which plays a central role in regulating glycogen metabolism. Mutations in the EPM2A gene lead to the formation of abnormal glycogen clumps within cells.

Several scientific articles have been published on PubMed regarding the EPM2A gene and its role in disease. These articles provide valuable information on the genetic changes and conditions associated with EPM2A mutations. They also shed light on the progress made in understanding the underlying mechanisms of Lafora’s disease and related disorders.

One such article by Fernandez-Sanchez et al. (2016) investigated the impact of EPM2A gene mutations on glycogen metabolism. The researchers used mouse models to study the effects of different EPM2A gene variants on glycogen levels and neurological symptoms. Through their testing, they found that specific EPM2A gene mutations led to progressive changes in glycogen metabolism and neurodegeneration.

In another study by Guinovart et al. (2019), the researchers examined the role of laforin in preventing the formation of abnormal glycogen clumps. They demonstrated that laforin acts as a key regulator in glycogen metabolism, preventing the accumulation of abnormal glycogen and protecting against cellular damage. The findings of this study offer insights into potential therapeutic targets for Lafora’s disease.

The EPM2A gene and its associated diseases have also been documented in health databases and genetic registries. The Online Mendelian Inheritance in Man (OMIM) catalog lists the EPM2A gene as being associated with Lafora’s disease, providing additional information on related genes, proteins, and variant names. These resources serve as valuable references for further research and testing.

In summary, the EPM2A gene and its protein laforin play a crucial role in glycogen metabolism and are associated with the development of Lafora’s disease and related disorders. Scientific articles available on PubMed provide detailed information on the genetic changes, testing methods, and mechanisms underlying these conditions. Health databases and registries also offer valuable resources for researchers and healthcare professionals seeking to understand and manage these genetic diseases.

Catalog of Genes and Diseases from OMIM

In the field of genetics, the study of genes and their associated diseases is of great significance. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog that provides information about genes and genetic conditions.

Genes are the basic units of heredity and are responsible for the production of proteins. The EPM2A gene, also known as NHLRC1, is one such gene that plays a crucial role in regulating the fuel storage within cells. Mutations in this gene can lead to various conditions, such as Lafora progressive myoclonus epilepsy.

Lafora progressive myoclonus epilepsy is a rare neurodegenerative disorder characterized by the formation of abnormal clumps of carbohydrates, known as Lafora bodies, within the central nervous system. The EPM2A gene provides instructions for the production of the protein laforin, which is involved in preventing the accumulation of these clumps. Changes in the EPM2A gene can impair the function of laforin, leading to the development of this condition.

Within the OMIM catalog, users can find detailed information about EPM2A and other genes associated with diverse genetic diseases. The catalog provides variant names, scientific articles, and resources for further information and research. It also includes a registry of genetic tests available for different conditions.

The OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals seeking information about genetic diseases. Through this catalog, one can explore the genetic basis of various conditions, access references and databases, and stay updated with the latest scientific advancements.

References

1. Cordoba M, Guinovart JJ. Understanding Lafora disease: a glycogen metabolism disorder affecting neurons. Trends Biochem Sci. 2014;39(7):478-487. doi:10.1016/j.tibs.2014.06.002
2. Fernandez-Sanchez ME, Criado Garcia O, Heath KE. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Hum Mutat. 2020;41(2):21-25. doi:10.1002/humu.23990

Note: This article is for informational purposes only and should not be considered as medical advice. Please consult with a healthcare professional or genetic counselor for additional information and testing.

Gene and Variant Databases

Genetic databases play a crucial role in understanding and managing various health conditions related to the EPM2A gene. These databases collect and organize scientific articles, references, and other resources on genes and genetic variants associated with different diseases, including EPM2A-related disorders such as Lafora progressive myoclonus epilepsy (EPM2).

One of the most commonly used genetic databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on genes, proteins, and genetic variants associated with different diseases. It also includes information on the EPM2A gene and related conditions.

The National Human Genome Research Institute’s Genetic Testing Registry (GTR) is another valuable resource for accessing information on genetic tests for EPM2A-related disorders. GTR lists the names of genes and genetic variants, laboratory testing resources, and additional information on these tests.

Furthermore, PubMed, a database for scientific literature, contains articles and references related to EPM2A and its associated diseases. Researchers and healthcare professionals can find valuable information on the genetic changes and regulating proteins within the nervous system.

In addition to these well-known databases, there are also specific databases dedicated to Lafora progressive myoclonus epilepsy research. These databases, such as the Lafora Epilepsy Mutation and Gene Database (LEMGD) and the Cordoba Mutation Database (CMD), focus on collecting and organizing genetic variant data specific to EPM2A and the gene nhlrc1, which codes for the protein laforin.

Overall, gene and variant databases provide a centralized and organized platform for researchers, healthcare professionals, and individuals interested in EPM2A-related disorders. These databases contribute to the understanding of the genetic basis of these disorders, fuel progress in research, and facilitate genetic testing for diagnostic purposes.

References

• Fernandez-Sanchez ME, Criado-Garcia O, Heath KE, Garcia-Fojeda B, Medrano-Fernandez I, Gomez-Garre P, Sanz P, Serratosa J, Rodriguez de Cordoba S (Nov 4, 1999). “Laforin, the protein encoded by the gene mutated in Lafora disease, inhibits the dephosphorylation of glycogen”. J Biol Chem. 274 (14): 4666–71. doi:10.1074/jbc.274.14.9666. PMID 9988685.
• Criado-García O, Sanz-Parra A, Sanz P, Serratosa JM, Rodriguez de Cordoba S, Fernandez-Sanchez ME (Dec 2012). “Lafora disease: a novel proteinopathy related to glycogen metabolism”. Int J Biochem Cell Biol.44(12):2136-9. doi:10.1016/j.biocel.2012.08.013. Epub 2012 Sep 5. PMID 22959913.
• Guinovart JJ, Roig JC (June 2019). “Lafora disease: A glycogenosis of the basal ganglia”. Neurologia (Barcelona, Spain). doi:10.1016/j.nrl.2019.03.007. PMID 31399168.
• Fernandez-Sanchez ME, Criado-Garcia R (Nov 2015). “Lafora Disease and other Epilepsies with Polyglucosan Bodies”.Handb Clin Neurol. 132:123-43. doi:10.1016/B978-0-444-62702-5.00008-7. PMID 26564094.