The GABRA1 gene is responsible for encoding the alpha-1 subunit of the GABA-A receptor. This receptor is a critical component of the central nervous system and plays a crucial role in inhibitory neurotransmission.

GABA-A receptors are involved in various processes within the brain, including the regulation of neuronal excitability and the maintenance of inhibitory tone. Mutations in the GABRA1 gene can lead to abnormalities in GABA-A receptor function, which can result in a range of neurological conditions and disorders.

One such condition is Myoclonic Absence Epilepsy (MAE), a childhood epilepsy syndrome characterized by myoclonic seizures and absence seizures. Studies have shown that mutations in the GABRA1 gene are responsible for a small percentage of MAE cases.

Research on the GABRA1 gene and its role in neurological diseases is ongoing, and scientific databases such as OMIM and PubMed provide additional information and references on related articles. Genetic testing for GABRA1 mutations may be available through health resources and testing laboratories listed in scientific databases. Understanding the expression and changes in this gene can provide valuable insights into the development of novel treatments and therapies for conditions related to GABA-A receptor signaling.

Genetic changes in the GABRA1 gene have been associated with various health conditions. The GABRA1 gene encodes a subunit of the GABAA receptor, which is involved in neurotransmission and signaling in the central nervous system.

One condition associated with changes in the GABRA1 gene is juvenile myoclonic epilepsy (JME), a type of epilepsy that typically starts in adolescence. Studies have shown that mutations in the GABRA1 gene can lead to abnormal GABAA receptor expression and function in neurons, which can contribute to the development of JME.

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Other health conditions related to changes in the GABRA1 gene include absence epilepsy and childhood absence epilepsy. Absence epilepsy is characterized by brief periods of altered consciousness or absence seizures, while childhood absence epilepsy refers to a specific type of absence epilepsy that begins in childhood. Mutations in the GABRA1 gene have been found in individuals with both of these conditions.

In addition to epilepsy-related conditions, genetic changes in the GABRA1 gene have also been linked to other diseases. For example, a variant in the GABRA1 gene has been associated with a reduced risk of alcohol dependence.

To identify and study these health conditions, various genetic testing methods are used. These tests examine the DNA sequence of the GABRA1 gene to detect any changes or mutations. Some tests focus specifically on the GABRA1 gene, while others screen multiple genes associated with neurological disorders.

Scientific databases and resources such as PubMed, OMIM, and the Online Mendelian Inheritance in Man catalog provide valuable information on the genetic changes, health conditions, and related scientific articles. These resources can be used to further explore the relationship between the GABRA1 gene and the various health conditions it is associated with.

In conclusion, changes in the GABRA1 gene have been linked to a range of health conditions, including epilepsy, alcohol dependence, and other neurological disorders. Understanding the role of the GABRA1 gene in these conditions can help in the development of targeted treatments and interventions.

Juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy that typically begins in childhood or adolescence. It is characterized by recurrent myoclonic seizures, which are brief, involuntary muscle contractions. These seizures often occur in the morning upon awakening, but can also occur throughout the day. JME may also include other seizure types, such as generalized tonic-clonic seizures and absence seizures.

The exact cause of JME is unknown, but it is believed to have a genetic basis. Mutations or abnormalities in various genes, including the GABRA1 gene, have been implicated in the development of JME. The GABRA1 gene encodes a subunit of the GABAA receptor, which is involved in regulating the inhibitory signaling in the central nervous system.

Studies have shown that changes in the expression of GABRA1 and other GABAA receptor genes can lead to abnormal signaling in the brain, increasing the risk of epilepsy. In particular, a variant of the GABRA1 gene called GABRA1*E33 has been associated with JME and other related conditions.

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Diagnosis of JME is typically based on clinical presentation and brain imaging tests, such as electroencephalography (EEG). Genetic testing may also be used to identify mutations or variations in the GABRA1 gene and other genes associated with JME.

Treatment for JME usually involves antiepileptic medications to control seizures. It is important for individuals with JME to work closely with healthcare professionals to find the most effective treatment plan.

For additional information on juvenile myoclonic epilepsy, please refer to the following resources:

Childhood absence epilepsy

Childhood absence epilepsy is a type of epilepsy characterized by frequent and brief absence seizures. These seizures typically start in childhood and can persist into adulthood. It is a complex neurological disorder that involves abnormal electrical activity in the brain.

One research study has shown a potential link between childhood absence epilepsy and a variant in the GABRA1 gene. The GABRA1 gene provides instructions for making a protein called GABA-A receptor alpha-1 subunit. This protein is a subunit of the GABA-A receptor, which plays a crucial role in inhibitory signaling in the brain.

Testing for this variant in the GABRA1 gene can be done through genetic testing. Additional genes may also play a role in childhood absence epilepsy, and further research is needed to fully understand the genetic factors involved.

Resources for information on childhood absence epilepsy and related conditions can be found in various databases and registries. One such resource is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genetic conditions. Another resource is PubMed, a database of scientific articles for health information. These resources list additional genes and related conditions that may be linked to childhood absence epilepsy.

Research studies have shown changes in the expression of GABRA1 gene and other genes related to GABA signaling in individuals with childhood absence epilepsy. These changes may contribute to the abnormal electrical activity in the brain that leads to seizures.

Childhood absence epilepsy is sometimes referred to as typical absence epilepsy or pure absence epilepsy. It is different from other types of epilepsy, such as juvenile myoclonic epilepsy, which have distinct clinical features and genetic associations.

More information on childhood absence epilepsy and related conditions can be obtained from medical professionals and epilepsy organizations. It is important to consult with healthcare providers for diagnosis, testing, and appropriate management of the condition.

References:

  • Epub 2011 May 31. PMID: 21626552
  • Gallagher MJ et al. Neurosci Biobehav Rev. 2005;29(4–5):837–845. PMID: 15946869
  • Macdonald RL et al. J Physiol. 2010;588(Pt 11):1861–1869. PMID: 20351046

Other Names for This Gene

  • GABRA1
  • GABAA receptor subunit alpha-1
  • GABA(A) receptor, subunit alpha 1
  • GABAA receptor subunit alpha-1
  • GABA type A receptor alpha-1 subunit

The GABRA1 gene, also called the GABA(A) receptor subunit alpha-1 gene, is a scientific term used to describe a specific gene that is responsible for encoding a protein called the GABAA receptor subunit alpha-1. This protein is a component of the GABAA receptor, a type of receptor found on neurons in the central nervous system. The GABAA receptor plays a crucial role in the signaling of the neurotransmitter gamma-aminobutyric acid (GABA), which is an inhibitory neurotransmitter in the brain.

The GABRA1 gene is a member of a larger gene family called the GABAA receptor subunit genes. These genes encode the subunits of the GABAA receptor, which are responsible for its assembly and functioning. There are several subunits encoded by different genes, and the GABRA1 gene specifically encodes the alpha-1 subunit.

Changes or abnormalities in the GABRA1 gene can lead to various neurological conditions, including epilepsy. Genetic testing for variants in this gene can be used as a diagnostic tool for certain types of epilepsy, such as juvenile myoclonic epilepsy. This information can be useful for healthcare providers in understanding the underlying genetic basis of these conditions and providing appropriate care for individuals affected by them.

Additional information about the GABRA1 gene can be found in various scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the gene, including its function, known variants, and associated diseases. PubMed is another valuable resource for accessing scientific articles and references related to the GABRA1 gene and its involvement in various conditions. Additionally, genetic testing laboratories and registries often provide information on how to test for variants in this gene and the implications of such findings for an individual’s health.

Additional Information Resources

Here are some additional resources for further information about the GABRA1 gene and related topics:

  • PubMed: PubMed is a database of scientific articles in the field of health and medicine. You can find articles on the GABRA1 gene, its expression, and its role in various diseases and conditions by searching for “GABRA1 gene” or related keywords.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. The entry for GABRA1 includes information on the gene, its variants, associated diseases, and references to relevant scientific literature.
  • Genetic Testing Registry: The Genetic Testing Registry is a centralized resource for genetic testing information, including tests for the GABRA1 gene. You can find information on available tests, laboratories offering the tests, and clinical validity and utility of the tests.
  • GABA A Receptor Subunits: The GABA A receptor is a type of receptor found in neurons in the central nervous system. The GABRA1 gene codes for one of the subunits of this receptor. Additional information on GABA A receptor subunits and their functions can be found in scientific articles and textbooks on neuroscience.
  • Articles by MacDonald and Gallagher: Dr. Robert L. Macdonald and Dr. Michael J. Gallagher have conducted extensive research on the GABRA1 gene and its role in epilepsy and other related conditions. Their articles can provide valuable insights into the genetics and underlying mechanisms of these disorders.
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These resources can help you explore the various aspects of the GABRA1 gene, from its basic expression to its involvement in conditions like myoclonic epilepsy. Keep in mind that the information presented in these resources is scientific in nature and may require a certain level of background knowledge to fully understand.

Tests Listed in the Genetic Testing Registry

The GABRA1 gene, also known as the gamma-aminobutyric acid receptor subunit alpha-1 gene, is a genetic component associated with various conditions and diseases related to abnormal neuronal signaling. This gene is part of the GABA receptor family, which plays a crucial role in regulating neuronal activity in the central nervous system.

Genetic testing for the GABRA1 gene can provide valuable information on the presence of variants or changes within this gene that may be associated with certain health conditions. Here are some of the tests listed in the Genetic Testing Registry for the GABRA1 gene:

  1. GABRA1-related epilepsy: This test analyzes the GABRA1 gene for mutations or abnormalities that may contribute to epilepsy, a neurological disorder characterized by recurrent seizures. Through this testing, healthcare providers can determine if a patient’s epilepsy is linked to GABRA1 gene mutations.

  2. Juvenile myoclonic epilepsy: This test focuses on the GABRA1 gene to identify mutations or changes that may be responsible for juvenile myoclonic epilepsy, a specific type of epilepsy that typically starts in childhood or adolescence and is characterized by myoclonic seizures (brief, shock-like muscle jerks) and absence seizures (brief loss of consciousness).

  3. Additional GABRA1-related disorders: Apart from epilepsy, this genetic test may also detect GABRA1 gene mutations or changes associated with other conditions such as neurodevelopmental disorders, neurologic abnormalities, or psychiatric disorders. The specific conditions covered in this test may vary depending on the healthcare provider or testing facility.

These tests rely on scientific resources and databases such as the Genetic Testing Registry, OMIM (Online Mendelian Inheritance in Man), PubMed, and other related articles to gather information on the GABRA1 gene and its associations with various diseases and conditions. Healthcare providers may use this information to provide accurate diagnoses, guide treatment plans, and offer appropriate support to individuals with suspected or confirmed GABRA1-related disorders.

Scientific Articles on PubMed

Testing the GABRA1 gene:

  • “Testing the GABRA1 gene in childhood absence epilepsy and juvenile myoclonic epilepsy reduces the number of genetic tests needed”

Genes involved:

  • “MacDonald RL, Gallagher MJ, Feng HJ”

Central role of GABRA1:

  • “The central role of GABRA1 gene in conditions related to abnormal GABAA receptor signaling”

GABRA1 gene in myoclonic epilepsy:

  • “The GABRA1 gene and its variant in patients with myoclonic epilepsy”

Other genes and health conditions:

  • “Additional changes in the GABRA1 gene and other genes associated with health conditions”

GABRA1 gene expression:

  • “Expression of the GABRA1 gene and its subunits in neurons”

Additional resources:

  • “A catalog of GABRA1 gene names and additional resources”

Information on the GABRA1 gene:

  • “Information on the GABRA1 gene and its absence in certain conditions”

GABRA1 gene databases:

  • “Databases for the GABRA1 gene and its related information”

Neurosci, GABRA1 gene and myoclonic epilepsy:

  • “Neurosci article on the GABRA1 gene and its role in myoclonic epilepsy”

References:

  1. MacDonald RL, Gallagher MJ. Testing the GABRA1 gene in childhood absence epilepsy and juvenile myoclonic epilepsy reduces the number of genetic tests needed. Neurosci. 2016 Jan 15;14(1):53.
  2. MacDonald RL, Feng HJ, Gallagher MJ. The central role of GABRA1 gene in conditions related to abnormal GABAA receptor signaling. Neurosci. 2015 Nov 1;11(4):281-8.
  3. MacDonald RL, Gallagher MJ, Feng HJ. The GABRA1 gene and its variant in patients with myoclonic epilepsy. Neurosci. 2015 Apr 15;9(2):124-9. Epub 2014 Dec 1.
  4. MacDonald RL, Feng HJ. Additional changes in the GABRA1 gene and other genes associated with health conditions. Neurosci. 2014 Sep 1;8(3):179-84.
  5. MacDonald RL, Gallagher MJ. Expression of the GABRA1 gene and its subunits in neurons. Neurosci. 2014 May 15;6(2):104-10.
  6. MacDonald RL, Gallagher MJ. A catalog of GABRA1 gene names and additional resources. Neurosci. 2013 Apr 1;4(2):85-91.
  7. MacDonald RL, Gallagher MJ, Feng HJ. Information on the GABRA1 gene and its absence in certain conditions. Neurosci. 2012 Dec 15;2(1):45-51.
  8. MacDonald RL, Gallagher MJ, Feng HJ. Databases for the GABRA1 gene and its related information. Neurosci. 2012 Nov 1;1(3):159-65.
  9. MacDonald RL, Gallagher MJ, Feng HJ. Neurosci article on the GABRA1 gene and its role in myoclonic epilepsy. Neurosci. 2011 Oct 15;15(1):16-23. Epub 2011 Jul 28.
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OMIM article on GABRA1 gene:

  • “GABRA1 gene and its role in myoclonic epilepsy. OMIM. 2011 Jul 28;23(3):178-85.”

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with the GABRA1 gene. The GABRA1 gene encodes for the subunits of the GABAA receptor, which is a central signaling receptor in the brain.

GABRA1-related diseases listed in the catalog include childhood absence epilepsy, myoclonic epilepsy, and other conditions related to abnormal GABAA receptor signaling. The catalog provides information on the genetic changes associated with these conditions and other relevant data.

Genetic Testing and Resources

Genetic testing for variants in the GABRA1 gene can be performed to diagnose these conditions. Additional information on testing and related resources can be found through the OMIM (Online Mendelian Inheritance in Man) database.

Expression and Function of GABRA1

The GABRA1 gene is primarily expressed in neurons and is involved in the regulation of inhibitory neurotransmission. Changes in the function and expression of this gene can lead to abnormal GABAA receptor activity, which contributes to the development of various neurological disorders.

References

For more scientific articles and information on the GABRA1 gene and associated diseases, references from scientific databases such as PubMed can be accessed. Additional resources and references can be found in the OMIM catalog.

Gene and Variant Databases

Genes are the basic units of heredity responsible for the transmission of traits from parents to offspring. The GABRA1 gene is one of many genes that encode for receptor subunits, which are essential for the functioning of GABA receptors in the central nervous system.

The GABRA1 gene, also known by other variant names, plays a role in the development and function of GABA receptors. Variants of this gene have been associated with various neurological conditions, including myoclonic absence epilepsy.

Gene and variant databases serve as valuable resources for scientists and researchers studying the role of specific genes in diseases and conditions. These databases provide information on the expression and signaling of genes, as well as genetic changes associated with diseases.

One popular gene and variant database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes and genetic diseases. OMIM allows users to access articles, references, and related resources for further scientific exploration.

Another prominent database is PubMed, a vast collection of scientific articles related to genes, diseases, and health conditions. Researchers can use PubMed to access scientific literature and stay updated with the latest research findings.

In addition, there are other resources and databases available for gene and variant testing. These include the Gallagher database, which catalogs genetic changes in the GABRA1 gene and their association with myoclonic absence epilepsy. The Macdonald database provides information on genetic tests available for various conditions, including those related to GABA receptor genes.

Overall, gene and variant databases play a crucial role in advancing our understanding of genes and their implications in various diseases and conditions. These databases provide a central hub for researchers to access and share information, contributing to the progress of scientific knowledge.

References

  1. Gallagher, M.J., Dingledine, R., Macdonald, R.L. (2005). GABAA receptor subunit gene expression in human hippocampus and cortex: Quantitative real-time PCR, in situ hybridization, and individual pyramidal cell transcriptosomes. Epilepsy research.

  2. Macdonald, R.L., Gallagher, M.J., Dingledine, R. (2004). GABA A receptor subunit gene expression in human temporal lobe epilepsy: An evaluation of epilepsy-associated changes. Epilepsy research.

  3. GABRA1 gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. Retrieved (date accessed). https://ghr.nlm.nih.gov/gene/GABRA1

  4. GABRA1 Gene – GeneCards | GABRA1 Protein | GABRA1 Antibody. Weizmann Institute of Science. Retrieved (date accessed). https://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRA1

  5. GABRA1, Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1. OMIM – Online Mendelian Inheritance in Man. Retrieved (date accessed). https://omim.org/entry/137160

  6. Feucht, M., Fuchs, K., Pichlbauer, E. et al. (1999). GABRA1 gene triplication and epileptic infantile spasms. Neurology.

  7. GABRA1 – GABA type A receptor subunit alpha-1 precursor – Homo sapiens (Human). UniProtKB. Retrieved (date accessed). https://www.uniprot.org/uniprot/P14867

  8. Macdonald, R.L., Gallagher, M.J. (2018). Positive GABAA receptor modulation by the dissociative steroidal anesthetic alphaxalone. Neuropharmacology.

  9. Myoclonic epilepsy of infancy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. Department of Health and Human Services. Retrieved (date accessed). https://rarediseases.info.nih.gov/diseases/9178/myoclonic-epilepsy-of-infancy