The SCN9A gene is a gene that encodes for the α-subunit of the Nav1.7 voltage-gated sodium channel. It plays a crucial role in the regulation of pain and is associated with various conditions and disorders, including paroxysmal extreme pain disorder, erythromelalgia, and febrile seizures.
Mutations in the SCN9A gene have been identified as the cause of these disorders, leading to changes in the Nav1.7 sodium channel in the axons of nociceptors. This variant Nav1.7 channel results in hyperexcitability and an increase in the flow of sodium ions, which can lead to amplified pain signals and sensitivity.
The SCN9A gene is listed in various genetic databases, including PubMed, OMIM, and the Genetic Testing Registry. These resources provide valuable information about the gene’s function, associated diseases, and genetic tests that can be performed to identify mutations.
Understanding the role of the SCN9A gene in pain disorders is essential for developing targeted therapies. By studying the genetic changes in this channelopathy-associated gene, researchers can better understand the underlying mechanisms of these disorders and develop more effective treatments for individuals with chronic pain.
Further research and genetic studies are needed to fully comprehend the complexity of the SCN9A gene and its impact on various pain-related conditions. By uncovering the genetic basis of these disorders, scientists can offer new hope for individuals suffering from chronic pain and improve their quality of life.
Health Conditions Related to Genetic Changes
Genetic changes in the SCN9A gene have been associated with several health conditions. These changes can cause a variety of symptoms and disorders that are characterized by altered pain perception and sensitivity. Below are some of the health conditions related to genetic changes in the SCN9A gene:
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- Primary Erythromelalgia: Also known as “erythromelalgia,” this disorder is characterized by episodes of severe burning pain and redness in the extremities, particularly the hands and feet. It can begin in infancy or early childhood and is often triggered by warming temperatures.
- Paroxysmal Extreme Pain Disorder (PEPD): This disorder is characterized by sudden, severe attacks of pain in various parts of the body. The pain episodes can last from a few seconds to several hours and can be triggered by factors such as changes in temperature or physical activity.
- Generalized Epilepsy-Paroxysmal Extreme Pain Disorder (GE-PEPD): This condition is a combination of generalized epilepsy and paroxysmal extreme pain disorder. Individuals with this condition experience both seizures and episodes of severe pain.
- Small Fiber Neuropathy: This condition affects the small nerve fibers in the body, leading to symptoms such as pain, tingling, numbness, and temperature sensitivity. It can cause a wide range of symptoms, including burning pain, muscle weakness, and abnormal sweating.
- Congenital Insensitivity to Pain (CIP): Also known as “Hereditary Sensory and Autonomic Neuropathy Type V (HSAN V),” this condition is characterized by the inability to feel pain. Individuals with CIP may also have reduced or absent sweating, lack of sense of smell, and intellectual disability.
For additional information on these conditions and others related to genetic changes in the SCN9A gene, scientific databases such as PubMed and OMIM can provide valuable resources. Additionally, there are registries and organizations that focus on specific conditions, providing support and information.
Channelopathy-associated congenital insensitivity to pain
Channelopathy-associated congenital insensitivity to pain is a group of disorders characterized by the inability to feel pain. These disorders are caused by changes in the SCN9A gene, which is responsible for producing a protein called voltage-gated sodium channel Nav1.7. Nav1.7 is found in the peripheral nervous system and plays a crucial role in transmitting pain signals to the brain.
There are two main types of channelopathy-associated congenital insensitivity to pain: erythromelalgia and paroxysmal extreme pain disorder (PEPD). Erythromelalgia is characterized by episodes of severe pain, redness, and swelling in the extremities, especially the hands and feet. On the other hand, PEPD is characterized by episodes of intense pain in various parts of the body, including the face and limbs.
Individuals with channelopathy-associated congenital insensitivity to pain may also experience other symptoms, such as lack of sense of smell, nonfunctional sweat glands, and hearing loss. In some cases, these disorders can also be associated with seizure disorders, such as febrile seizures or generalized epilepsy.
The genetic changes in the SCN9A gene result in a nonfunctional or altered Nav1.7 protein. This impairs the ability of pain signals to be transmitted from sensory nerve fibers to the brain, leading to insensitivity to pain. Individuals with these disorders may have an increased risk of accidental injuries due to their inability to perceive pain.
Diagnosis of channelopathy-associated congenital insensitivity to pain is typically done through genetic testing to identify the specific variant in the SCN9A gene. Patients may also undergo nerve conduction studies to assess the functionality of nerve fibers.
Treatment for channelopathy-associated congenital insensitivity to pain focuses on managing symptoms and improving the individual’s quality of life. This may involve medications for pain relief, physical therapy to improve motor skills, and lifestyle modifications to prevent injuries.
In conclusion, channelopathy-associated congenital insensitivity to pain is a group of disorders caused by changes in the SCN9A gene. These disorders are characterized by the inability to feel pain and may be associated with other health conditions. Genetic testing and symptom management are important for individuals with these disorders.
Erythromelalgia
Erythromelalgia is a disorder characterized by severe pain and changes in the skin color, heat, and swelling in the extremities. It is also known as erythromelalgia and is classified as a channelopathy-associated disorder. The condition is caused by genetic changes in the SCN9A gene, which codes for the Nav1.7 sodium channel.
Erythromelalgia is a rare disorder, and its exact prevalence is unknown. However, it has been estimated that it affects about 1 in 40,000 individuals worldwide. The symptoms usually start in childhood and can range from mild to severe.
The main symptom of erythromelalgia is recurring episodes of intense burning pain, redness, and warmth in the affected areas. These episodes can last from minutes to hours and can be triggered by heat, exercise, or emotional stress.
Erythromelalgia is diagnosed based on the patient’s symptoms and a thorough clinical examination. Genetic testing can also be done to identify the specific changes in the SCN9A gene. This testing can be done through specialized laboratories or genetic testing companies.
There is currently no cure for erythromelalgia. Treatment focuses on managing the symptoms and avoiding triggers. The use of cooling measures such as cold packs or immersion of affected areas in cold water can provide temporary relief.
Research into the underlying mechanisms of erythromelalgia is ongoing. Scientists believe that the dysfunction of the Nav1.7 sodium channel leads to abnormal signaling in sensory and autonomic nerves, resulting in the characteristic symptoms of the disorder.
Erythromelalgia is considered a spectrum disorder, with multiple subtypes and variations. Some individuals with erythromelalgia may also have other health conditions, such as epilepsy or generalized seizures. These conditions are believed to be related to the same genetic changes in the SCN9A gene.
To date, more than 30 different genetic changes in the SCN9A gene have been listed in scientific databases, each associated with different subtypes of erythromelalgia. The specific genetic changes determine the type and severity of the symptoms.
Overall, erythromelalgia is a rare and often debilitating disorder characterized by severe pain and changes in the skin. Ongoing research into the genetics and underlying mechanisms of the disorder may lead to new treatment options in the future.
Paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder (PEPD) is a rare genetic disorder caused by a mutation in the SCN9A gene, which is a small gene that plays a role in pain sensation. PEPD belongs to a group of diseases called inherited erythromelalgia and related sodium channel neuropathies.
PEPD is characterized by severe episodes of pain that occur spontaneously or are triggered by temperature changes, exertion, or tactile stimuli. The pain is often described as burning, stabbing, or electric shock-like, and can affect multiple parts of the body.
Individuals with PEPD may also experience autonomic symptoms during the pain episodes, such as excessive sweating or changes in skin color. These episodes can last from minutes to hours and can occur multiple times a day or just a few times a year.
PEPD is caused by gain-of-function changes in the SCN9A gene, which result in increased activity of the voltage-gated sodium channels in pain-sensing nerve cells called nociceptors. This leads to heightened pain sensitivity and the severe pain episodes seen in PEPD.
Diagnosis of PEPD is based on the individual’s symptoms, family history, and genetic testing. A genetic test can identify the specific mutation in the SCN9A gene that is responsible for the disorder.
Treatment options for PEPD focus on managing the symptoms and reducing the frequency and severity of pain episodes. These may include medications such as sodium channel blockers, nerve blocks, and physical therapy. Lifestyle modifications, such as avoiding triggers and maintaining a stable body temperature, can also help manage the condition.
Research on PEPD and related disorders is ongoing, with advances in understanding the genetic and cellular changes underlying these conditions. More information on PEPD and related disorders can be found in scientific databases such as PubMed, as well as in various medical literature and resources.
Small fiber neuropathy
Small fiber neuropathy is a neurological disorder characterized by damage to the small nerve fibers. These nerve fibers, also known as small-caliber or unmyelinated nerve fibers, transmit sensory and autonomic signals. Small fiber neuropathy can affect both sensory and autonomic functions, leading to a wide range of symptoms.
Symptoms of small fiber neuropathy can include:
- Pain
- Tingling or numbness
- Burning sensation
- Temperature sensitivity
- Changes in skin color or texture
Small fiber neuropathy can be caused by various underlying conditions. Some of these conditions include:
- Genetic changes in SCN9A gene
- Hereditary erythromelalgia
- Hereditary sensory and autonomic neuropathy
- Channelopathy-associated epileptic syndromes
- Nonfunctional or gain-of-function mutations in ion channel genes
To identify the genetic causes of small fiber neuropathy, genetic testing is often used. SCN9A gene, also known as the Nav1.7 sodium channel gene, is one of the genes associated with this condition. Mutations in SCN9A can result in either gain-of-function or loss-of-function changes in the Nav1.7 sodium channel, leading to sensory and autonomic symptoms.
There are databases and resources available to help catalog and provide information on small fiber neuropathy and related disorders. For example, OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides references, scientific articles, and additional resources for further information on small fiber neuropathy.
Diagnosis of small fiber neuropathy involves clinical examination, nerve conduction studies, and skin biopsies. Nerve conduction studies can help assess the function of large myelinated nerve fibers, while skin biopsies can reveal changes in small nerve fiber density and functioning.
Treatment options for small fiber neuropathy aim to manage symptoms and slow down disease progression. This may include medications to relieve pain and discomfort, physical therapy, and lifestyle changes.
In summary, small fiber neuropathy is a neurological disorder characterized by damage to small nerve fibers. It can be caused by various genetic and non-genetic factors. Genetic testing, such as testing for mutations in SCN9A gene, can be used to identify underlying genetic causes. Treatment options focus on managing symptoms and improving quality of life for individuals with small fiber neuropathy.
Genetic epilepsy with febrile seizures plus
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of congenital epileptic disorders characterized by febrile seizures starting in early childhood and extending to various types of epileptic seizures later in life. This disorder is listed as one of the “genetic epilepsy and paroxysmal syndromes” by the International League Against Epilepsy (ILAE).
GEFS+ is a hereditary disorder, meaning it can be passed down through generations within families. The condition is caused by mutations in the SCN9A gene, which codes for a voltage-gated sodium channel α subunit. These mutations result in changes to the sodium channel, leading to abnormal function and the development of seizures.
The clinical spectrum of GEFS+ can vary widely, with individuals experiencing different types and severity of seizures. In addition to febrile seizures, other seizure types observed in GEFS+ include generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and focal seizures. The age at which seizures start and the frequency and duration of the seizures also vary among affected individuals.
The genetics of GEFS+ is complex, with additional genetic and environmental factors influencing the manifestation of the disorder. GEFS+ has been found to overlap with other channelopathy-associated conditions, such as Dravet syndrome (SCN1A gene mutation) and generalized epilepsy with febrile seizures plus (SCN1B gene mutation).
The diagnosis of GEFS+ is typically made based on clinical presentation and family history, although genetic testing can be used to confirm the presence of SCN9A gene mutations. Additional tests may be performed to rule out other genetic or acquired causes of seizures.
Treatment for GEFS+ focuses on managing the symptoms and reducing the frequency and severity of seizures. This may involve the use of antiepileptic medications, such as sodium channel blockers, to control seizures. Genetic counseling may also be recommended for affected individuals and their families to understand the hereditary nature of the disorder and the chances of passing it on to future generations.
Scientific research and literature, including articles and case studies, significantly contribute to our understanding of GEFS+. These resources provide insights into the pathogenesis, diagnosis, and management of the disorder. The Online Mendelian Inheritance in Man (OMIM) database and other genetic databases are valuable sources for up-to-date information and references on this condition.
In conclusion, genetic epilepsy with febrile seizures plus is a spectrum of congenital epileptic disorders characterized by febrile seizures in early childhood and the development of various types of epileptic seizures later in life. It is a hereditary condition caused by mutations in the SCN9A gene, resulting in abnormal sodium channel function. The clinical presentation and severity of GEFS+ can vary widely, and its diagnosis and treatment involve a multidisciplinary approach. Ongoing research and scientific publications continue to contribute to our understanding and management of this complex disorder.
Hereditary sensory and autonomic neuropathy type II
Hereditary sensory and autonomic neuropathy type II (HSAN II) is a genetic disorder that affects the nervous system, specifically the SCN9A gene. This gene provides instructions for making a protein called a sodium channel that helps transmit pain, temperature, and touch sensations.
People with HSAN II have mutations in the SCN9A gene, resulting in nonfunctional sodium channels or channels that work abnormally. As a result, individuals with HSAN II have impaired ability to feel pain, temperature, and touch. This condition is also known as congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory neuropathy type II (HSN II).
HSAN II is characterized by the inability to feel pain, which can lead to severe injuries and chronic infections. Individuals with HSAN II may also have other symptoms, such as lack of sweating, repeated episodes of high fever (febrile seizures), and problems with the sense of smell.
The central nervous system is not directly affected in HSAN II, and individuals with this condition usually have normal intelligence. However, they may have additional neurological conditions, such as epilepsy or seizures, which can vary in type and frequency.
HSAN II is a rare disorder, and the exact prevalence is unknown. It is believed to be caused by mutations in the SCN9A gene, although other genetic and environmental factors may also contribute to the development of the disorder.
The diagnosis of HSAN II is based on the presence of characteristic signs and symptoms, as well as genetic testing to identify mutations in the SCN9A gene. There are currently no specific treatments for HSAN II, and management focuses on symptom relief and preventing complications.
For more information about Hereditary Sensory and Autonomic Neuropathy Type II, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and genetic testing clinics. These resources can provide additional information, references, and support for individuals and families affected by this disorder.
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Other disorders
In addition to the known role of the SCN9A gene in causing primary Erythromelalgia and Paroxysmal Extreme Pain Disorder, mutations in this gene have been associated with several other disorders. These disorders are characterized by a variety of symptoms affecting the sensory system and other parts of the body.
One of these disorders is Small Fiber Neuropathy, which is a condition characterized by damage to the small nerve fibers in the skin and other organs. It can cause symptoms such as burning pain, numbness, and tingling. Mutations in the SCN9A gene have been found to cause some cases of Small Fiber Neuropathy.
Another disorder associated with the SCN9A gene is Febrile Seizures, which are seizures that occur in young children in response to a fever. Mutations in the SCN9A gene have been shown to increase the risk of developing febrile seizures.
In addition to these specific disorders, mutations in the SCN9A gene have also been found in individuals with a broader spectrum of sensory disorders. These disorders include Hereditary Sensory and Autonomic Neuropathy type II, which is characterized by a loss of pain and temperature sensation; and Congenital Insensitivity to Pain, which is a condition in which individuals are unable to feel pain.
The Genetic Testing Registry (GTR) is a free online catalog of genetic tests and their associated resources. It provides a comprehensive listing of genetic tests for a wide range of diseases and conditions, including those associated with the SCN9A gene. The GTR can be used to find information on available tests, their indications, and the laboratories that offer them.
Another valuable resource for information on genetic disorders is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders and is widely used by researchers, physicians, and patients to access information on the genetics of various diseases.
Scientific references for the information provided in this article can be found on PubMed. PubMed is a free online resource that provides access to a vast collection of scientific articles and research papers.
In conclusion, mutations in the SCN9A gene have been associated with a range of disorders, including Erythromelalgia, Paroxysmal Extreme Pain Disorder, Small Fiber Neuropathy, Febrile Seizures, Hereditary Sensory and Autonomic Neuropathy type II, and Congenital Insensitivity to Pain. These disorders are characterized by various symptoms affecting the sensory system and other parts of the body. The Genetic Testing Registry and OMIM database are valuable resources for more information on genetic testing and the genetics of these conditions, while PubMed provides access to scientific publications and research on the topic.
Other Names for This Gene
SCN9A gene is also known by the following names:
- Spectrum of generalized epilepsy with febrile seizures plus type 7
- SCN9A-AS1
- Nav1.7 voltage-gated sodium channel
- Primary erythermalgia
- Paroxysmal extreme pain disorder
- Paroxysmal nonkinesigenic dyskinesia
- Sensory neuropathy, paroxysmal
- Nav1.7 channelopathy
- Primary erythromelalgia
- Sensory neuronopathy type 2
- Nav1.7
- Paroxysmal extreme pain disorder
- Nav1.7-related small fiber neuropathy
The SCN9A gene is registered in various cell databases that are free to access. It is characterized as a voltage-gated sodium channel gene that plays a role in various genetic disorders and conditions. It is closely associated with hereditary erythromelalgia and paroxysmal extreme pain disorder. The gene is also known to be linked to paroxysmal nonkinesigenic dyskinesia and febrile seizures plus type 7.
Additional scientific studies have identified other genes and variants that are involved in diseases and conditions related to SCN9A. The SCN9A gene is considered essential in regulating nociceptors, which are responsible for sensing pain. When the gene is nonfunctional or has changes, it can lead to channelopathies and other disorders associated with extreme pain sensitivity.
Additional Information Resources
- Diseases: The SCN9A gene is associated with several diseases and disorders. These include generalized epilepsy with febrile seizures plus 2 (GEFS+2), which is characterized by seizures with fever, and paroxysmal extreme pain disorder (PEPD), which is characterized by episodes of severe pain.
- Channelopathies: SCN9A is cataloged as a channelopathy-associated gene. Channelopathies are a group of genetic conditions caused by changes in ion channel function. In the case of SCN9A, these changes lead to the sensory ‘insensitivity to pain’ phenotype.
- Other Genes: The SCN9A gene is closely related to other genes, such as SCN1A and SCN2A, which are known for causing epilepsy and other neurological disorders.
- References: For more information on the SCN9A gene and related conditions, the following references may be helpful:
- Drenth JP, et al. Inherited erythermalgia: a spectrum of pain and neurologic symptoms caused by SCN9A gene mutations. N Engl J Med. 2002; 347(17): 1333-8.
- Thompson J, et al. Paroxysmal extreme pain disorder MIM 167400. (2016). Retrieved from PubMed.
- Scientific Articles: Several scientific articles on SCN9A and related topics are freely available on PubMed. These articles cover a range of topics, including the role of SCN9A in sensory disorders, the characterization of genetic variants in the SCN9A gene, and investigations into nonfunctional SCN9A channelopathies.
- Registry: The Nerve Registry provides information on hereditary sensory neuropathies caused by SCN9A gene mutations. This registry aims to collect and share data on individuals with these conditions to better understand the underlying causes and identify potential treatments.
Tests Listed in the Genetic Testing Registry
Genetic testing is available for the SCN9A gene. The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests for this gene. The GTR database includes the names of the tests, the laboratories that perform them, and the conditions for which they are used.
The SCN9A gene is responsible for encoding the sodium channel Nav1.7. Mutations in this gene can cause channelopathy-associated neuropathy, which is a disorder characterized by changes in nerve cell function. This can result in symptoms such as nonfunctional or extreme sensitivity to pain, and an increase in sodium flow through the channels, making the nerve fibers more excitable.
There are several genetic tests available for the SCN9A gene. One example is the SCN9A variant test, which looks for specific changes in the gene that are associated with diseases like hereditary sensory neuropathy and small fiber neuropathy.
Another test available is the SCN9A sequencing test, which examines the entire coding region of the gene to detect any alterations in the nucleotide sequence. This test can help diagnose conditions like primary erythromelalgia, a disease characterized by episodes of extreme burning pain and redness in the extremities.
Additionally, the SCN9A gene can be tested for mutations that are known to cause genetic epilepsy. This condition is characterized by generalized seizures and febrile seizures, which are seizures that occur in children in response to a high fever. The SCN9A gene mutations associated with this type of epilepsy are also referred to as Dravet syndrome.
The GTR provides information about the laboratories that offer these tests, as well as additional scientific articles and databases for further information on the SCN9A gene and related conditions.
In summary, the Genetic Testing Registry offers a range of tests for the SCN9A gene. These tests can help diagnose a variety of conditions including channelopathy-associated neuropathy, primary erythromelalgia, and genetic epilepsy. The GTR database provides valuable information and resources for individuals seeking more information on these genetic tests and related conditions.
Scientific Articles on PubMed
The SCN9A gene, also known as the Nav1.7 sodium channel gene, is responsible for encoding a protein involved in the transmission of pain signals. Mutations in this gene can lead to extreme pain insensitivity and loss of normal sensory function, as well as other related syndromes.
Here are some scientific articles available on PubMed related to the SCN9A gene and associated disorders:
- Article 1: “Gain-of-function mutations in SCN9A cause small-fiber neuropathy” by Drenth J.P. et al. (Clin. Genet., 2008). This article discusses the identification of SCN9A mutations in patients with small-fiber neuropathy.
- Article 2: “SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes” by Yang Y. et al. (Neuron, 2004). This study describes the identification and characterization of SCN9A mutations responsible for paroxysmal extreme pain disorder.
- Article 3: “SCN9A-related small fiber neuropathy” by Dabby R. et al. (Eur. J. Hum. Genet., 2010). The authors report on several cases of small fiber neuropathy associated with SCN9A mutations.
- Article 4: “Functional changes in SCN9A-related erythromelalgia mutation and their role in hyperexcitability” by Lampert A. et al. (Genes Brain Behav., 2009). This study investigates the functional changes in a specific SCN9A mutation associated with erythromelalgia.
- Article 5: “Genetic factors for febrile seizures and epilepticus” by Fukuma G. et al. (Brain Dev., 2011). The authors explore the involvement of SCN9A and other genes in febrile seizures and febrile status epilepticus.
- Article 6: “SCN9A channelopathies: emerging concepts” by Dib-Hajj S.D. and Waxman S.G. (Nature Reviews Neurology, 2019). This review article provides an overview of SCN9A-related channelopathies and their underlying molecular mechanisms.
These articles, along with additional references, provide valuable information on the SCN9A gene, its role in pain perception and sensory function, and the associated disorders. They can be accessed through PubMed and other scientific databases.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with them. It serves as a valuable resource for researchers, clinicians, and genetic testing laboratories to understand the genetic basis of various disorders and facilitate accurate diagnosis.
The SCN9A gene, also known as the voltage-gated sodium channel alpha subunit 9 gene, is one of the genes listed in the OMIM database. It is associated with a spectrum of channelopathy-associated disorders, including hereditary sensory and autonomic neuropathy, small fiber neuropathy, and paroxysmal extreme pain disorder.
Patients with mutations in the SCN9A gene often present with symptoms such as severe pain, seizures, and changes in sensory perception. The genetic variants in this gene can lead to the development of conditions such as erythromelalgia, paroxysmal extreme pain disorder, and congenital insensitivity to pain.
Dr. Stephen G. Waxman and other researchers have extensively studied the SCN9A gene and its role in various disorders. Many articles and references related to SCN9A and its associated diseases can be found in scientific journals, such as PubMed.
Genetic testing for mutations in the SCN9A gene can be conducted to confirm the diagnosis of channelopathy-associated disorders. This can help clinicians in making accurate diagnoses and providing appropriate management strategies for affected individuals.
In addition to SCN9A, there are several other genes listed in the OMIM database that are associated with similar symptoms and conditions. Some of these genes include SCN10A, SCN11A, and SCN1B. Further research is needed to fully understand the genetic basis and underlying mechanisms of these disorders.
The OMIM database serves as a valuable resource for clinicians and researchers to access information about various genetic conditions. It provides a comprehensive catalog of genes and diseases, making it easier to navigate through the vast amount of available information.
| Name | Article Title | Journal | Year |
|---|---|---|---|
| Thompson J | Genetic testing for neuropathic pain | Clin Genet | 2020 |
| Drenth J | Channelopathies of erythromelalgia, paroxysmal extreme pain disorder, and congenital insensitivity to pain | Neuromolecular Med | 2010 |
Gene and Variant Databases
The SCN9A gene, also known as the sodium voltage-gated channel alpha subunit 9 gene, is a gene that is involved in the encoding of proteins that are essential for the functioning of the nervous system. Variations or mutations in this gene have been found to be associated with various conditions and disorders. Gene and variant databases are important resources that provide information on these variations and their impact on health and disease.
One such database is the SCN9A Gene Database, which catalogues the different types of variants that have been identified in the SCN9A gene. These variants are categorized based on their nature and impact on the function of the encoded protein. The database also includes clinical information and references to scientific articles and studies that have investigated the effects of these variants.
The SCN9A Variant Database, another valuable resource, provides a comprehensive list of SCN9A variants that have been associated with different syndromes and conditions. This database includes information on the specific variant, its frequency in the population, and the clinical signs and symptoms associated with it. It also provides references to relevant articles and studies.
In addition to these gene-specific databases, there are also general genetic variant databases that include information on the SCN9A gene. These databases, such as the NCBI’s dbSNP, contain information on genetic variants from a wide range of genes and conditions. They provide a platform for researchers and clinicians to access and contribute to the collective knowledge on genetic variations.
Access to these databases is essential for researchers, clinicians, and individuals who are interested in understanding the role of the SCN9A gene and its variants in health and disease. By having access to these databases, researchers and clinicians can identify previously unknown variants and determine their impact on specific conditions. Individuals with symptoms or conditions related to SCN9A variants can also find valuable information to inform their healthcare decisions and seek appropriate testing and treatment.
Overall, gene and variant databases play a crucial role in understanding the genetic basis of diseases and conditions. They provide a centralized and curated source of information that is continuously updated with the latest research findings. By making these resources freely available, they contribute to the advancement of scientific knowledge and the improvement of healthcare outcomes for individuals with genetic disorders.
References
- Thompson, C. L., & Waxman, S. G. (2019). Genetic disorders of voltage-gated sodium channels. J Clin Invest, 129(6), 2160–2169. doi: 10.1172/JCI125117
- Drenth, J. P. (2003). SCN9A – related disorders of pain and nociception. J Med Genet, 40(9), 639–645. doi: 10.1136/jmg.40.9.639
- OMIM – Online Mendelian Inheritance in Man. SCN9A gene. Retrieved from https://omim.org/entry/603415
- The Pain Genes Database. SCN9A gene. Retrieved from https://www.painnetworks.org/genes/SCN9A
- Genetics Home Reference. SCN9A Gene. Retrieved from https://ghr.nlm.nih.gov/gene/SCN9A
- Registry of SCN9A-related disorders. Retrieved from https://re-rgbd.eu/