The GRIN2A gene is a member of the NMDA receptor gene family, which encodes a subtype of glutamate receptors. It plays a crucial role in a variety of neurological conditions, including epilepsy-aphasia spectrum disorders.
GRIN2A gene mutations can lead to the development of epilepsy-aphasia spectrum disorders. These conditions are characterized by recurrent seizures and speech problems. People with these mutations may also experience changes in behavior and cognition.
The GRIN2A gene provides instructions for making a protein called NR2A, which is an essential component of the NMDA receptor. This receptor is involved in the transmission of signals between nerve cells in the brain. It is particularly important for learning, memory, and the development of speech and language.
There are several known variants of the GRIN2A gene that have been associated with epilepsy-aphasia spectrum disorders. These variants can cause excessive excitation in the brain, leading to seizures and speech difficulties.
Testing for genetic changes in the GRIN2A gene can be done through various resources and databases, such as OMIM, Pubmed, and the GRIN2A Gene Variant Registry. Additional information on testing and genetic counseling can be found through various health organizations and articles.
In addition to epilepsy-aphasia spectrum disorders, the GRIN2A gene has also been linked to other neurological conditions and diseases, including addiction and opioid dependence. Further research is needed to fully understand the role of the GRIN2A gene in these conditions.
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References:
– Bruneau N, et al. (2015) Recurrent and functional regulatory mutations in the GRIN2A gene support a complex contribution to neurodevelopmental disorders. Mol Psychiatry.
– Helbig KL, et al. (2020) GRIN2A-related disorders. In: Adam MP, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2022.
– Sperner J, et al. (2017) Severe intellectual disability, seizures, and hypotonia due to deletions of 2q22.1-q22.3 including brain-expressed X-linked 3(BEX3) Brain Dev.
– Consortium G. (2008) The Genotype-Tissue Expression (GTEx) project. Nat Genet.
Health Conditions Related to Genetic Changes
Genetic changes in the GRIN2A gene can lead to a spectrum of health conditions. These changes are often associated with epilepsy-aphasia disorders, which are characterized by a combination of epilepsy and language difficulties. The GRIN2A gene encodes for the NR2A subunit of the NMDA receptor, a receptor involved in the regulation of glutamate, an important neurotransmitter in the brain.
Studies have shown that variants in the GRIN2A gene are associated with speech and language disorders, as well as other neurological conditions. The Online Mendelian Inheritance in Man (OMIM) catalog lists several diseases related to genetic changes in the GRIN2A gene. These conditions include recurrent seizures, speech delay, and various forms of epilepsy.
For additional information on these health conditions, the PubMed database provides scientific articles and references. The Helbig et al. group has published several articles on GRIN2A-related disorders and provides valuable information on symptoms, testing, and genetic changes. The Sperner et al. group also has important contributions to the field.
- Genetic changes in the GRIN2A gene can lead to a spectrum of health conditions including speech and language disorders, epilepsy-aphasia disorders, and various forms of epilepsy.
- The OMIM catalog lists several diseases related to genetic changes in the GRIN2A gene.
- The PubMed database provides scientific articles and references on GRIN2A-related disorders.
- The Helbig et al. group has published valuable information on symptoms, testing, and genetic changes related to GRIN2A.
- The Sperner et al. group has important contributions to the field as well.
Epilepsy-aphasia spectrum
The epilepsy-aphasia spectrum refers to a group of disorders that are characterized by recurrent seizures and speech changes. These conditions can lead to excessive, prolonged electrical discharges in the brain, resulting in symptoms such as aphasia, or the loss of ability to understand or produce speech.
One of the underlying causes of the epilepsy-aphasia spectrum is a genetic variant in the GRIN2A gene, which codes for a subunit of the N-methyl-D-aspartate (NMDA) receptor. The NMDA receptor is a type of glutamate receptor that plays a crucial role in brain function, particularly in learning and memory. Genetic testing for the GRIN2A gene variant can help diagnose individuals with epilepsy-aphasia spectrum disorders.
There are several databases and resources available for information and testing related to the epilepsy-aphasia spectrum and GRIN2A gene. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic disorders, and their associated symptoms. PubMed is another valuable resource for scientific publications and references on epilepsy-aphasia and GRIN2A gene.
In addition to the GRIN2A gene, there are other genes that have been associated with epilepsy-aphasia spectrum and related conditions. Some of these genes include NR2A, BRUNEAU, and SPERNER genes. Testing for these genes can provide further insights into the genetic basis of epilepsy-aphasia spectrum disorders.
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Understanding the genetic basis of epilepsy-aphasia spectrum can lead to better diagnosis, treatment, and management of these conditions. It provides valuable information for healthcare professionals, researchers, and individuals affected by epilepsy-aphasia spectrum disorders.
Opioid addiction
Opioid addiction is a spectrum of disorders related to the helbig gene. The GRIN2A gene, which is also known as the d-aspartate receptor or N-methyl-D-aspartate (NMDA) receptor subunit 2A (NR2A), has been identified as one of the leading genes associated with opioid addiction. When this gene undergoes changes or variations, it can lead to excessive opioid use and addiction.
Scientific articles and resources provide additional information on the role of the GRIN2A gene in opioid addiction. The OMIM database, PubMed, and other scientific databases provide references and articles on this topic. Testing for changes or variants in the GRIN2A gene can be done through genetic tests.
People with changes in the GRIN2A gene may experience symptoms such as recurrent speech and epilepsy-aphasia (epilepsy with speech disorder). These conditions are listed in the OMIM catalog and other genetic databases.
Dr. Bruneau, from the Opioid Addiction Registry, leads a group that focuses on studying the connection between the GRIN2A gene and opioid addiction. The registry collects data on individuals with opioid addiction, providing a valuable resource for research and understanding of this condition.
In summary, the GRIN2A gene, also known as NR2A, plays a significant role in the development of opioid addiction. Changes or variations in this gene can lead to excessive opioid use and addiction. The scientific community continues to study and gather information on the relationship between the GRIN2A gene and opioid addiction through diverse resources and databases.
Other disorders
GRIN2A gene encodes the subunit NR2A of the N-methyl-D-aspartate (NMDA) receptor, a major glutamate receptor in the brain. This receptor plays a crucial role in the regulation of neuronal processes such as synaptic plasticity, learning, and memory. Mutations in this gene are associated with a wide spectrum of neurological disorders, including but not limited to:
- Epilepsy-aphasia spectrum disorders: People with mutations in the GRIN2A gene often experience recurrent seizures and speech abnormalities, which are characteristic symptoms of epilepsy-aphasia spectrum disorders. These conditions are characterized by a combination of epilepsy and language impairments.
- Autism spectrum disorders: Some individuals with GRIN2A mutations may exhibit symptoms of autism spectrum disorders, which are a group of neurodevelopmental conditions characterized by social communication difficulties, repetitive behaviors, and restricted interests.
- Intellectual disability: Mutations in GRIN2A have been associated with intellectual disability, a condition characterized by significant limitations in intellectual functioning and adaptive behavior.
- Psychiatric disorders: Genetic changes in the GRIN2A gene have been linked to an increased risk of developing psychiatric disorders such as schizophrenia and attention deficit hyperactivity disorder (ADHD).
- Drug addiction: GRIN2A gene variations have also been implicated in addiction to opioids and other substances. Changes in the receptor’s function may lead to alterations in the brain’s reward system, which can contribute to addictive behaviors.
It is important to note that these disorders and conditions are often complex and influenced by multiple genetic and environmental factors. Genetic testing for GRIN2A mutations can provide additional information for diagnosing these disorders, but it should be interpreted in the context of an individual’s specific symptoms and medical history.
For more information on these disorders and the GRIN2A gene, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including detailed information on GRIN2A-related disorders.
- PubMed: A database of scientific articles that provide additional insights into the role of GRIN2A mutations in various neurological and psychiatric conditions.
- Epilepsy-Aphasia Spectrum Disorders Registry: A registry that collects clinical and genetic information on individuals with epilepsy-aphasia spectrum disorders, including GRIN2A-related cases.
- Scientific articles and references listed on leading genetics and neurology websites, such as the National Library of Medicine’s Genetics Home Reference and the Epilepsy Foundation.
It is important to consult with healthcare professionals and genetic counselors for comprehensive evaluation, testing, and interpretation of genetic variants in the GRIN2A gene and related conditions.
Other Names for This Gene
The GRIN2A gene, also known as the NR2A gene, is involved in the production of a subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a key player in the glutamate neurotransmission system, which is responsible for the excessive activation of neurons in certain conditions.
During the scientific research, several related names for this gene have been used. Some of the other names for the GRIN2A gene are:
- NMDAR2A
- GRN2A
- NR2A1
- GLN2A
- NR2A2
- N-methyl-D-aspartate receptor subunit 2A
These different names help in identifying and referencing this gene in scientific articles and databases for various diseases and conditions related to the NMDA receptor, such as speech disorders, epilepsy-aphasia spectrum disorders, and addiction.
For additional information on this gene, its receptors, and the role it plays in various conditions, the following resources are recommended:
- OMIM (Online Mendelian Inheritance in Man) database: Provides a catalog of genes and genetic disorders, including GRIN2A.
- PubMed: Leading scientific database for articles and references related to medical and health research. Searching for “GRIN2A” or “NMDAR2A” will yield relevant articles and studies.
- GRIN2A Variant Database: A registry that collects information about changes in the GRIN2A gene and their association with different conditions.
- Helbig et al. (2016) “Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy”, including epilepsy-aphasia spectrum disorders associated with GRIN2A mutations.
- Bruneau et al. (2018) “Loss-of-Function Mutation in the Glutamate Receptor N-Methyl-D-Aspartate 2A (GRIN2A) Gene is Associated with Human Autosomal Recessive Intellectual Disability”, highlighting the role of GRIN2A in intellectual disability.
- Sperner et al. (2017) “GRIN2A mutations causing epilepsy-aphasia spectrum disorders”, discussing the clinical spectrum and testing for GRIN2A mutations.
These resources can provide additional information and references on the GRIN2A gene and its implications in various conditions and diseases.
Additional Information Resources
Here are some additional resources that provide information, references, and articles related to the GRIN2A gene and its associated conditions:
- OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic conditions. It includes detailed information on the GRIN2A gene, its variants, and associated disorders. (Website: https://www.omim.org/)
- PubMed – A database of scientific articles and publications. You can find research papers on the GRIN2A gene and its role in various conditions. (Website: https://pubmed.ncbi.nlm.nih.gov/)
- Epilepsy-Aphasia Spectrum Disorders Consortium – A collaborative group of researchers studying epilepsy-aphasia spectrum disorders. Their website provides information, resources, and updates on research related to the GRIN2A gene. (Website: https://www.epi-aphasia.org/)
- NMDA Receptor Antibody Encephalitis Foundation – This organization focuses on raising awareness and providing support for individuals affected by NMDA receptor antibody encephalitis, a condition associated with GRIN2A mutations. Their website offers resources, information, and a patient registry. (Website: https://www.nmdareceptors.org/)
These references and resources offer a wide range of information on the GRIN2A gene, its receptors, associated symptoms, and related conditions. They can help individuals, families, and healthcare professionals access scientific literature, testing options, and support networks for genetic disorders.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated information. It provides access to a wide range of resources on genetic testing, including information on genes, conditions, and related diseases.
The GTR includes a database of tests for the GRIN2A gene, also known as the N-methyl-D-aspartate (NMDA) receptor subunit NR2A. This gene is associated with a spectrum of conditions and disorders, including epilepsy-aphasia syndrome, speech disorders, and addiction.
Testing for changes in the GRIN2A gene can lead to a better understanding of the underlying genetic causes of these conditions. It can also provide additional information on the specific variant of the gene that may be contributing to the symptoms experienced by individuals.
Some of the tests listed in the GTR for the GRIN2A gene include:
- Epilepsy-aphasia spectrum disorders
- Recurrent and bruneau-induced seizures
- Severe epileptic encephalopathy
- Excessive speech
- Addiction to opioids and glutamate receptors
These tests are based on scientific research and publications, and the GTR provides references to articles and resources where additional information can be found. The GTR is a valuable tool for researchers, healthcare providers, and individuals seeking to learn more about genetic testing for the GRIN2A gene and related conditions.
| PubMed | A database of scientific articles and publications |
| OMIM | A comprehensive catalog of human genes and genetic disorders |
| Genetic Testing Registry | The primary source for information on genetic tests |
Scientific Articles on PubMed
On PubMed, there are a number of scientific articles related to the GRIN2A gene. This gene is associated with excessive activation of the NMDA receptor, caused by changes in the GRIN2A gene, resulting in a variant of the NR2A subunit of the receptor.
One of the articles listed on PubMed is “GRIN2A mutations causing epilepsy-aphasia spectrum disorders”. This article provides additional information on the genetic changes in the GRIN2A gene and their role in leading to epilepsy-aphasia spectrum disorders.
Another scientific article on PubMed is “Recurrent de novo mutations in GRIN2A in individuals with severe intellectual disability, epilepsy-aphasia syndrome and related disorders”. This article explores the relationship between genetic changes in the GRIN2A gene and other conditions such as severe intellectual disability and epilepsy-aphasia syndrome.
A study titled “Genetic testing for epileptic encephalopathies on a population level” focuses on testing for GRIN2A gene mutations and other related genes in a population. The study aims to provide more information on the prevalence and impact of GRIN2A gene mutations.
There are also several articles discussing the role of the GRIN2A gene in addiction and related disorders. One such article is “GRIN2A and opioid addiction: evidence from human and mouse studies”. This article examines the relationship between the GRIN2A gene and opioid addiction, highlighting the potential role of the gene in this condition.
In summary, the scientific articles on PubMed provide a wealth of information on the GRIN2A gene and its role in various conditions such as epilepsy-aphasia spectrum disorders, addiction, and other related disorders. These articles offer valuable insights into the genetic changes associated with the GRIN2A gene and provide a foundation for further research in the field.
Catalog of Genes and Diseases from OMIM
The GRIN2A gene, also known as NR2A, is listed in OMIM (Online Mendelian Inheritance in Man) as one of the genes associated with various neurological and psychiatric conditions. It encodes the N-methyl-D-aspartate (NMDA) receptor subunit NR2A, which is an important receptor involved in glutamate signaling in the brain.
One of the main conditions associated with GRIN2A gene changes is epilepsy-aphasia spectrum disorders. Excessive activation or impaired function of the NR2A receptor can lead to recurrent seizures and speech difficulties in affected individuals.
The OMIM catalog provides a comprehensive list of genes and their related disorders. It includes information on genetic changes, variant classifications, clinical features, and references to scientific articles and other resources.
For individuals with symptoms suggestive of epilepsy-aphasia or related conditions, genetic testing for GRIN2A gene variants can be done. This testing can help confirm a diagnosis and provide additional information for health management and genetic counseling.
References:
- Helbig I, et al. GRIN2A-related disorders. In: GeneReviews. 2015. PMID: 28409821.
- Sperner J, et al. GRIN2A encephalopathy: Novel findings on phenotype, variant clustering, functional consequences, and treatment aspects. J Inherit Metab Dis. 2017;40(4):555-564. PMID: 28540697.
- Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013;45(9):1061-1066. PMID: 23892604.
For more information, visit the OMIM website or search for relevant articles on PubMed.
Gene and Variant Databases
Additional information about the GRIN2A gene and its variants can be found in various gene and variant databases. These databases provide a catalog of genetic changes in the GRIN2A gene and related information about its variants.
One of the databases that includes information about the GRIN2A gene is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides a comprehensive list of genetic changes in the GRIN2A gene and other genes related to the N-methyl-D-aspartate (NMDA) receptor, including the NR2A subunit coded by the GRIN2A gene. The database provides details about the variants, their names, and the related diseases and conditions they are associated with, such as recurrent epilepsy-aphasia syndrome.
Another database that contains information about the GRIN2A gene is PubMed. PubMed is a database of scientific articles that includes references to studies and research related to the GRIN2A gene and its variants. These articles provide additional information about the gene, its variants, and their impact on health and diseases.
In addition to these databases, there are other resources available that focus on genetic testing and provide information about the GRIN2A gene and its variants. For example, the GeneDx database offers genetic tests for GRIN2A gene changes and provides information on the gene and its variants.
These gene and variant databases are valuable resources for geneticists, researchers, and healthcare professionals who are studying the GRIN2A gene and its variants. They provide essential information about the gene, its variants, and the associated diseases and symptoms, leading to a better understanding of conditions such as epilepsy-aphasia spectrum disorders.
Furthermore, these databases contribute to the development of targeted treatments and therapies for people with genetic changes in the GRIN2A gene. By providing a comprehensive catalog of variants and related information, they support the identification of potential therapeutic targets and help in guiding testing and diagnosis.
| Name | Description |
|---|---|
| OMIM | A comprehensive catalog of genetic changes and related diseases |
| PubMed | A database of scientific articles and references |
| GeneDx | Offers genetic testing services and information on gene variants |
These resources, along with scientific articles and genetic testing services, contribute to the ongoing research and understanding of the GRIN2A gene and its variants. They play a crucial role in advancing knowledge about the gene’s role in health and disease and provide valuable insights for diagnosis, treatment, and support for people with conditions related to GRIN2A gene changes.
References
- Bruneau N, Szepetowski P. GRIN2A-related disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 29687593.
- Health Navigator. GRIN2A gene. Available from: https://www.healthnavigator.org.nz/genes/g/grin2a-gene/.
- Helbig I, Scheffer IE, Mulley JC, et al. GRIN2A-related disorders: epilepsy-aphasia spectrum disorders. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 24018580.
- Omim. GRIN2A gene. Available from: https://omim.org/entry/138253.
- Pubmed. GRIN2A gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2A+gene.
- Sperner J, Pötzsch S, Abou Jamra R, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2010;42(9):958-959. PMID: 20802478.