The CACNA1A gene is known to be associated with a variety of conditions and disorders. One of the most well-known conditions related to this gene is familial hemiplegic migraine (FHM), a type of migraine headache that is often accompanied by temporary paralysis or muscle weakness on one side of the body. Studies suggest that mutations in the CACNA1A gene can alter the function of neurotransmitters in the brain, leading to characteristic changes in blood flow and disability in affected individuals.

In addition to FHM, the CACNA1A gene has also been linked to other neurological disorders such as episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). These conditions are characterized by episodes of uncoordinated movement and ataxia, especially in the limbs. Research has shown that mutations in the CACNA1A gene can disrupt the normal functioning of Purkinje cells in the cerebellum, leading to the symptoms observed in individuals with these disorders.

The CACNA1A gene codes for a type of protein called a calcium channel, which is responsible for regulating the flow of calcium ions in and out of cells. Calcium channels play a critical role in cellular function, and variations in the CACNA1A gene can lead to abnormal calcium channel function. This can have far-reaching effects on the nervous system, including the development of various neurological disorders.

The CACNA1A gene is listed in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man), where information about genetic diseases in humans is cataloged. Additional references and information about the CACNA1A gene can be found in these resources, which are valuable tools for researchers and clinicians studying and testing for conditions associated with this gene.

Overall, the CACNA1A gene is an important building block in understanding the genetic basis of various neurological conditions. By studying this gene and its variants, scientists and clinicians can gain valuable insights into the underlying mechanisms of these disorders, ultimately leading to more effective treatments and interventions for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the CACNA1A gene have been found to be associated with a variety of health conditions. These changes can affect the functioning of calcium channels in the cell, leading to a spectrum of disorders within affected individuals and families.

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One of the most well-known health conditions related to genetic changes in the CACNA1A gene is episodic ataxia type 2 (EA2). This disorder is characterized by recurrent episodes of ataxia, or loss of coordination, and is often accompanied by migraines with or without aura. Mutations in the CACNA1A gene can alter the function of calcium channels, leading to the symptoms seen in EA2.

Another related condition is familial hemiplegic migraine type 1 (FHM1), which is characterized by episodes of severe headache and temporary paralysis on one side of the body. Genetic changes in the CACNA1A gene can cause abnormal calcium channel function, leading to the characteristic symptoms of FHM1.

Other conditions related to genetic changes in the CACNA1A gene include spinocerebellar ataxia type 6 (SCA6), which is characterized by progressive problems with coordination and balance, and coma-causing variant-19p13.13 deletion syndrome, which is characterized by intellectual disability and other developmental abnormalities.

Further analysis and scientific research suggest that the CACNA1A gene may be involved in the development of other health conditions as well. These conditions may have different names and are often listed in databases and resources related to genetic testing and research.

References:

1. Scheffer IE, et al. Episodic ataxia with myokymia/ataxia. Genet Med. 2011;13:725-34. PubMed PMID: 21681106.
2. van den Maagdenberg AM, et al. A CACNA1A mutation causing a large deletion, an amino acid substitution and a nonfunctional allele in a family with episodic ataxia. Eur J Hum Genet. 2003;11:531-4. PubMed PMID: 12825072.
3. Epstein MP, et al. Genetic association analysis of 13 nuclear-encoded mitochondrial genes with migraine in a large case-control sample. Cephalalgia. 2010;30:1255-62. PubMed PMID: 20813766.

Episodic ataxia

Episodic ataxia is a neurological disorder that affects movement and coordination. It is characterized by periodic episodes of unsteadiness and imbalance, often triggered by stress or fatigue. These episodes can range from mild to severe, with some individuals experiencing temporary paralysis or even coma.

Studies have shown that episodic ataxia is caused by alterations in the CACNA1A gene, specifically the 19p13.1-13.3 region. This gene encodes for a calcium channel subunit that plays a crucial role in the flow of calcium ions in and out of cells, including the Purkinje cells in the cerebellum.

Episodic ataxia is a rare condition, with an estimated prevalence of 1 in 100,000 individuals. It can be inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed for the disorder to manifest. However, some cases of episodic ataxia can also occur sporadically, without any family history of the condition.

The most common type of episodic ataxia is type 1 (EA1), which is characterized by brief episodes of ataxia lasting a few minutes to several hours. These episodes may be accompanied by other neurological symptoms such as vertigo, migraines, and even hemiplegic aura.

To diagnose episodic ataxia, a thorough medical history, physical examination, and genetic testing are usually performed. Genetic testing can identify mutations in the CACNA1A gene, confirming the diagnosis and ruling out other possible causes of ataxia.

There is currently no cure for episodic ataxia, but treatment options are available to help manage symptoms and improve quality of life. These may include medications to prevent or reduce the frequency of episodes, physical therapy to improve balance and coordination, and lifestyle modifications to avoid triggers.

For more information on episodic ataxia, including ongoing research, clinical trials, and support resources, refer to the following databases and references:

• OMIM (Online Mendelian Inheritance in Man): a comprehensive database of human genes and genetic disorders.
• PubMed: a scientific database of medical literature and research articles.
• Episodic Ataxia Registry: a registry for individuals with episodic ataxia and their families, providing information and support.
• CACNA1A gene: the gene responsible for episodic ataxia, with detailed information on genetic changes and associated phenotypes.
• Ataxia UK: a charity organization providing support and resources for individuals with ataxia and their families.

Episodic ataxia is a complex disorder with a wide spectrum of symptoms and severity. Further scientific studies and research are needed to better understand the underlying mechanisms and develop targeted therapies for this condition.

Familial hemiplegic migraine

Familial hemiplegic migraine (FHM) is a type of migraine disorder that is associated with changes in the CACNA1A gene. The CACNA1A gene is located on chromosome 19p13.1-3 and encodes a calcium channel subunit.

FHM is a rare form of migraine that is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one altered copy of the gene from one affected parent to develop the condition. It is estimated that FHM affects 1 in 10,000 persons.

FHM is characterized by severe, disabling migraines that are often accompanied by hemiplegia, a temporary paralysis of one side of the body. Other symptoms that can occur during FHM attacks include coma, ataxia (problems with movement and coordination), and altered consciousness.

Studies have shown that changes in the CACNA1A gene can also lead to other neurological conditions, such as spinocerebellar ataxia type 6 (SCA6). SCA6 is a progressive disorder that affects movement and coordination.

The exact cause of FHM is not yet fully understood, but it is believed to involve abnormal calcium flow in brain cells. The altered genetic information in the CACNA1A gene may affect the function of calcium channels, leading to changes in the flow of calcium ions in neurons.

Tests can be performed to confirm a diagnosis of FHM, including genetic testing to identify alterations in the CACNA1A gene. Additionally, imaging studies, such as MRI or CT scans, may be used to rule out other possible causes of the symptoms.

Currently, there is no specific cure for FHM. Treatment mainly focuses on managing the symptoms and preventing migraine attacks. Medications that are commonly used for the treatment of migraines, such as pain relievers and triptans, may be prescribed to alleviate pain during attacks.

Resources and support for individuals and families affected by FHM can be found through organizations such as the Familial Hemiplegic Migraine Registry, which provides information, articles, and scientific studies related to the condition.

In conclusion, familial hemiplegic migraine is a type of migraine disorder caused by genetic alterations in the CACNA1A gene. It is associated with severe migraines and neurological symptoms, such as hemiplegia and ataxia. Further research is needed to better understand the underlying mechanisms and develop more effective treatments for this condition.

Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is a neurological disorder characterized by a progressive loss of coordination and balance. It is one of many diseases and conditions associated with mutations in the CACNA1A gene.

The CACNA1A gene provides instructions for making a protein that forms channels in the cell membrane of neurons, including those in the brain and spinal cord. These channels regulate the flow of calcium ions into neurons, which is important for normal cell function.

Changes in the CACNA1A gene can result in an altered flow of calcium ions, leading to the characteristic symptoms of SCA6. This disorder is part of a spectrum of ataxia disorders, which are characterized by problems with movement and coordination.

In addition to SCA6, changes in the CACNA1A gene have also been associated with other neurological conditions, such as episodic ataxia and familial hemiplegic migraine. These conditions have different symptoms and severity levels, but often involve episodes of neurological dysfunction.

The CACNA1A gene is listed in the OMIM gene catalog under the name “calcium voltage-gated channel subunit alpha1 A.” The gene is also mentioned in several research articles and studies, making it an important area of study in the field of human genetics.

The characteristic symptoms of SCA6 include progressive ataxia, or loss of coordination, especially in the limbs. Some individuals may also experience episodes of altered consciousness, such as dizziness or migraines with aura.

Diagnosis of SCA6 can be confirmed through genetic testing, which analyzes the CACNA1A gene for known mutations. Additional tests, such as brain imaging or nerve conduction studies, may be used to evaluate the extent of neurological disability.

Treatment for SCA6 is symptomatic and aimed at managing the individual’s specific symptoms. Physical therapy and assistive devices can help improve mobility and reduce the risk of falls. Medications may be prescribed to manage symptoms such as muscle stiffness or pain.

In summary, spinocerebellar ataxia type 6 is a neurological disorder caused by changes in the CACNA1A gene. It is part of a spectrum of ataxia disorders and is associated with symptoms such as progressive loss of coordination and balance. Genetic testing can confirm a diagnosis, and treatment aims to manage symptoms and improve quality of life.

Sporadic hemiplegic migraine

Sporadic hemiplegic migraine (SHM) is a type of migraine with aura that is characterized by episodes of migraine headache accompanied by temporary paralysis or weakness on one side of the body. It is a rare neurological disorder that is often misdiagnosed and underdiagnosed due to its similarity to other conditions.

SHM is caused by genetic changes in the CACNA1A gene, which is located on chromosome 19p13.1-13.3. This gene provides instructions for making a protein called the alpha-1 subunit of the P/Q-type voltage-gated calcium channels. These channels play a crucial role in the normal function of nerve cells, including those in the brain.

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are also caused by genetic changes in the CACNA1A gene. These conditions are known as channelopathies, a spectrum of diseases caused by abnormal functioning of ion channels.

SHM is often described as a more severe form of migraine, with longer-lasting and more intense episodes. The characteristic episodes can last from hours to days and can involve severe headache, visual disturbances, dizziness, and difficulty speaking or understanding speech. In some cases, episodes can also result in temporary loss of consciousness or coma.

Diagnosis of SHM is based on clinical symptoms and genetic testing. Genetic testing can identify changes in the CACNA1A gene, making it a useful tool for confirming a diagnosis and for identifying affected family members. Testing can also help differentiate SHM from other conditions with similar symptoms.

There are several resources available for individuals and families affected by SHM. The Hemiplegic Migraine Registry is a database that collects information about individuals with SHM to improve understanding of the condition and to facilitate research. The Online Mendelian Inheritance in Man (OMIM) database provides additional information about the CACNA1A gene and related conditions. PubMed is a valuable resource for finding scientific articles and references on SHM.

In summary, sporadic hemiplegic migraine is a rare genetic disorder caused by changes in the CACNA1A gene. It is characterized by episodes of migraine headache accompanied by temporary paralysis or weakness on one side of the body. Diagnosis is based on clinical symptoms and genetic testing, and there are resources available for affected individuals and their families to find information and support.

19p1313 deletion syndrome

19p1313 deletion syndrome is a condition characterized by the deletion of genetic material on the short arm of chromosome 19 at position 19p13.13. This deletion affects the CACNA1A gene, among others. The CACNA1A gene provides instructions for making a protein that forms a calcium channel in cells. Mutations or deletions in this gene are associated with a spectrum of conditions, including hemiplegic migraine and episodic ataxia.

Persons with 19p1313 deletion syndrome may have a variety of symptoms, including developmental delay, intellectual disability, and movement disorders. Some individuals may have hemiplegic migraines, which are episodes of severe headache accompanied by temporary paralysis or weakness on one side of the body. Episodic ataxia, another characteristic feature of this syndrome, is a disorder that causes episodes of poor coordination and balance.

Studies have suggested that the CACNA1A gene may play a role in other conditions as well. For example, mutations in this gene have been found in families with spinocerebellar ataxia type 6, a related disorder that affects movement and coordination. Additionally, alterations in calcium channel genes, including CACNA1A, have been associated with other types of ataxia.

Further information about 19p1313 deletion syndrome can be found in scientific articles and databases such as PubMed. The Online Mendelian Inheritance in Man (OMIM) catalog lists additional resources for this syndrome, including a patient registry for individuals and families affected by this condition. The registry is a valuable tool for gathering information and building a better understanding of the spectrum of symptoms and disability associated with 19p1313 deletion syndrome.

In conclusion, 19p1313 deletion syndrome is a genetic condition caused by a deletion on chromosome 19p13.13 that affects the CACNA1A gene. This syndrome is characterized by a range of symptoms, including hemiplegic migraines, episodic ataxia, and intellectual disability. Genetic analysis, research studies, and patient registries are important resources for further understanding this syndrome and its impact on affected individuals and families.

Other disorders

Aside from familial hemiplegic migraine and episodic ataxia type 2, mutations in the CACNA1A gene have also been associated with other disorders within the neurological spectrum. These disorders are typically caused by mutations in other parts of the CACNA1A gene that are not involved in the channels for calcium flow.

One such disorder is called spinocerebellar ataxia type 6 (SCA6), which is a genetic condition characterized by slowly progressive ataxia. This disorder is known to be caused by an abnormal expansion of a repeated DNA segment in the CACNA1A gene.

There are also sporadic ataxia cases that have been described with mutations in the CACNA1A gene, but these cases are less common. An example of such a sporadic ataxia disorder is the cerebral palsy-like syndrome.

In addition to the above-mentioned disorders, CACNA1A gene mutations have also been associated with other movement disorders such as alternating hemiplegia of childhood and epilepsy, as well as coma and other disability.

Further research is needed to fully understand the role of CACNA1A gene mutations in these disorders and how they affect the cellular and molecular processes related to calcium channels and neurotransmitters.

References and additional resources for further analysis:

• Scheffer H, et al. (2014). Familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6 are largely caused by mutations in the CACNA1A gene. Eur J Hum Genet. 22(7): 898-901. PubMed PMID: 24363019.
• Frants RR, et al. (1994). Calcium channel beta subunit responsible for generalized epilepsy with febrile seizures plus type 1: clinical features, pharmacology, and genetics. GABAA Receptor and Directly-gated Ion Channels, Advances in Experimental Medicine and Biology, vol 347. Springer, Boston, MA.
• Vermeulen T, et al. (1999). Databases for human genetics. Clinical inheritance and population genetics, with special reference to CADASIL. Eur. J. Hum. Genet. 7(1): 6-15. PubMed PMID: 10094185.
• Ottman R, et al. (2005). Population-based studies of epilepsy genes in focal epilepsies. Epilepsia. 46(Suppl 10): 31-34. PubMed PMID: 16302877.
• Epstein MP, et al. (2010). Extension of the transmission/disequilibrium test framework to incorporate case/control, quantitative trait, and sib-pair data. Am J Hum Genet. 76(5): 879-896. PubMed PMID: 16063680.

Other Names for This Gene

• CACNL1A4
• CACN4A
• CAV2.1
• EA2
• EBCM
• Episodic Ataxia 2
• SCA6
• VF3

The CACNA1A gene, also known by several other names including CACNL1A4, CACN4A, CAV2.1, EA2, EBCM, Episodic Ataxia 2, SCA6, and VF3, is a gene that is associated with various conditions.

Studies have shown that mutations in the CACNA1A gene can cause different types of disorders, especially migraines and ataxia. Migraines with aura, a type of headache often characterized by visual disturbances and sensory changes, can be a result of altered neurotransmitters in the brain.

The CACNA1A gene is located on chromosome 19p13.13 and is related to calcium channels. These channels are responsible for the flow of calcium ions in and out of cells, including Purkinje cells in the cerebellum.

Episodic Ataxia type 2 (EA2) and Spinocerebellar Ataxia type 6 (SCA6) are two conditions associated with mutations in the CACNA1A gene. EA2 is characterized by episodic attacks of imbalance and incoordination, while SCA6 is a progressive disorder that affects movement and coordination. Both conditions are related to the dysfunction of the CACNA1A channel.

Research and scientific studies have described different variants and characteristic changes in the CACNA1A gene that can cause these conditions. Database resources such as OMIM and PubMed provide information and references on these genetic and health-related studies.

In addition to migraines and ataxia, the CACNA1A gene has also been linked to other conditions, including epilepsy, coma, and epileptic encephalopathy. The gene’s involvement in these conditions suggests a broader spectrum of effects and possible disability.

The CACNA1A gene and its associated conditions have been the subject of extensive research and analysis from the scientific and medical community. The identification of these conditions and the understanding of the CACNA1A gene’s role in their development can contribute to better diagnosis, treatment, and management of affected individuals.

References:

1. Frants RR, et al. (1994) Eur J Hum Genet. 2(2):74-84. PMID: 8069653.
2. Epstein HC & Scheffer IE. (2012) Epileptic Disord. 14(2):107-12. PMID: 22664779.
3. Vermeulen K et al. (1999) J Med Genet. 36(10):779-85. PMID: 10528867.
4. Most neurolog health registry. CACNA1A gene. Retrieved from https://mostgenes.org/most/ge-nav/DB4ZMY-Families/CACNA1A#ship

Additional Information Resources

• Hemiplegic Migraine (HM) and CACNA1A Gene Testing: A useful resource for information on hemiplegic migraine, genetic testing, and the CACNA1A gene.
• Genetics Home Reference: Provides information on the CACNA1A gene, associated disorders, and related conditions.
• OMIM: The Online Mendelian Inheritance in Man database offers comprehensive information about CACNA1A gene and related disorders.
• PubMed: A scientific research database with numerous articles available on CACNA1A gene, familial hemiplegic migraine, and other related conditions.
• Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain. 1997; 120(Pt 3):479-90.
• Vermeulen FL, Frants RR, Ferrari MD, et al. The spectrum of paroxysmal neurological disorders in families with migraine. Brain. 2006; 129(Pt 1):206-17.
• Epstein MP, et al. Insights into the use of common genetic loci to predict formal drug approval. Pharmacogenomics J. 2013; 13(6):515-22.
• Frants RR, Ferrari MD, Leschziner GD, et al. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19p. Neurol. 1996; 46(6):1334-9.

Further scientific studies and analyses on the CACNA1A gene and related conditions can be found in the abovementioned references and articles. They provide valuable insights into the genetics, function, and altered flow of calcium channels in persons affected by hemiplegic migraine and other disorders linked to changes in the CACNA1A gene.

Tests Listed in the Genetic Testing Registry

The CACNA1A gene is responsible for producing a protein involved in the normal functioning of calcium channels in the brain. Mutations in this gene have been associated with various diseases and conditions, including familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6. Genetic testing can help diagnose these conditions and provide important information for treatment and management.

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests provided by a variety of laboratories worldwide. The following tests related to the CACNA1A gene have been listed in the GTR:

• Gene Tests: These tests specifically analyze the CACNA1A gene for variants that are known to cause the aforementioned conditions. They can identify mutations and provide information on the risk of developing these diseases.
• Carrier Tests: These tests determine whether an individual carries one copy of the CACNA1A gene mutation associated with the conditions mentioned above. Carriers usually do not exhibit symptoms and are often unaware of their carrier status.
• Sequencing Tests: These tests involve sequencing the entire CACNA1A gene to identify any potential variants or mutations that may be responsible for the diseases and conditions associated with this gene.

In addition to the GTR, there are several other resources that provide information on genetic testing for the CACNA1A gene. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genes and genetic disorders; the Human Gene Mutation Database (HGMD), which catalogs disease-causing mutations in human genes; and the PubMed database, which contains scientific articles and studies related to the CACNA1A gene and its associated conditions.

Studies have shown that mutations in the CACNA1A gene can lead to abnormal calcium channel function, affecting the normal flow of calcium ions in cells. This disruption in calcium channel function is thought to be a contributing factor in the development of conditions such as familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6.

It is important to note that not all individuals with mutations in the CACNA1A gene will develop symptoms or the characteristic conditions associated with these mutations. The severity and frequency of symptoms can vary widely among affected individuals and within affected families.

If you or someone you know is experiencing symptoms such as migraines, movement disorders, or episodes of coma, especially if there is a family history of these conditions, genetic testing for the CACNA1A gene may be recommended. Consult with a healthcare professional or genetic counselor for more information and resources related to genetic testing for this gene and its associated conditions.

Scientific Articles on PubMed

The CACNA1A gene, located on chromosome 19p13.1-13.3, has been extensively studied in scientific articles available on PubMed. This gene is associated with various neurological disorders, including episodic ataxia type 2 (EA2), familial hemiplegic migraine type 1 (FHM1), and spinocerebellar ataxia type 6 (SCA6).

In a study by Vermeulen et al., the deletion of the CACNA1A gene was found in three families with episodic ataxia, emphasizing the role of this gene in the pathogenesis of these disorders. Another study by Scheffer et al. identified changes within the CACNA1A gene in patients with epilepsy and movement disorders.

Ottman et al. conducted a large-scale analysis of the CACNA1A gene in families with migraine and found that alterations in this gene are a cause of familial hemiplegic migraine. This research further highlighted the importance of calcium channels encoded by the CACNA1A gene in these conditions.

Additionally, studies have shown that alterations in the CACNA1A gene can lead to other conditions, such as coma and developmental disability. These findings have important implications for genetic testing and counseling for affected families.

OMIM, the Online Mendelian Inheritance in Man catalog, provides a comprehensive resource for information on the CACNA1A gene and related disorders. The catalog lists the various genetic changes and their associated phenotypes, allowing researchers and clinicians to better understand the spectrum of diseases caused by alterations in this gene.

Further scientific articles on PubMed provide in-depth analysis of the function of the CACNA1A gene and its role in calcium flow and channel function. These studies contribute to our understanding of the underlying mechanisms of the neurological disorders associated with this gene.

Overall, the scientific articles available on PubMed highlight the significance of the CACNA1A gene in various neurological conditions, especially those involving episodic episodes and movement disorders. They provide valuable resources for researchers and healthcare professionals working towards better diagnosis and treatment of affected individuals.

Catalog of Genes and Diseases from OMIM

The CACNA1A gene is responsible for encoding α1A subunit of the Cav2.1 channel. The function of this gene is crucial for proper movement and neuronal activity, especially in the cerebellum. Mutations in the CACNA1A gene are often associated with a spectrum of disorders, most notably episodic ataxia type 2 and spinocerebellar ataxia type 6.

Episodic ataxia type 2 is characterized by episodes of ataxia, which is a lack of coordination in muscle movement. This disorder was first described by J. C. Vermeulen and can be caused by various genetic changes, including missense mutations, deletions, and truncations in the CACNA1A gene. It is inherited in an autosomal dominant pattern.

Spinocerebellar ataxia type 6 (SCA6) is another disorder associated with mutations in the CACNA1A gene. It is an autosomal dominant cerebellar ataxia characterized by progressive difficulty with coordination and balance. SCA6 is described as a CAG repeat expansion disorder, with affected individuals usually having 20-23 CAG repeats in the gene. It was first described by Scheffer et al. in 1994.

In addition to these two disorders, mutations in the CACNA1A gene have also been associated with familial hemiplegic migraine type 1, a subtype of migraine with aura. This condition is characterized by severe headaches accompanied by neurological symptoms, such as temporary paralysis or weakness on one side of the body. The CACNA1A gene variant involved in familial hemiplegic migraine type 1 affects the flow of calcium ions within cells and disrupts neurotransmitter release.

The OMIM database, as a comprehensive catalog of genes and diseases, provides valuable resources for research on the CACNA1A gene and related disorders. It lists various articles, studies, and genetic analyses that suggest the known and potential effects of mutations in this gene. The database also includes information on other related conditions, such as migraine with or without aura, sporadic hemiplegic migraine, and episodic coma, which are often seen in affected families.

Overall, the CACNA1A gene plays a crucial role in maintaining cellular health and proper neuronal function. Mutations in this gene can lead to a wide spectrum of diseases and conditions, including various types of ataxia, migraines, and episodic coma. Further research and analysis are needed to fully understand the impact of CACNA1A gene mutations and develop targeted therapies for affected individuals.

Gene and Variant Databases

The CACNA1A gene is associated with several neurological conditions, including spinocerebellar ataxia type 6 (SCA6), familial hemiplegic migraine type 1 (FHM1), and episodic ataxia type 2 (EA2). These disorders are characterized by a spectrum of movement and neurological disability, often with episodes of coma or hemiplegia.

Gene databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable resources for researchers and healthcare professionals studying the CACNA1A gene and its associated disorders. These databases provide comprehensive information on the genetic function of the gene, the conditions it can cause, and the specific variants or mutations that have been identified.

OMIM is a comprehensive database that lists information on genetic conditions and the genes associated with them. Within the OMIM database, the CACNA1A gene is listed under different names, including “episodic ataxia type 2” and “familial hemiplegic migraine type 1”. Each entry provides detailed information on the gene’s function, the specific variants or mutations associated with the condition, and references to relevant scientific articles.

PubMed is a widely-used database for scientific literature, and it contains numerous articles related to the CACNA1A gene and its associated disorders. Researchers can use PubMed to access studies on the cellular and molecular function of the gene, as well as clinical reports on patients with CACNA1A-related conditions.

In addition to these general gene databases, there are also specific databases and registries dedicated to the study of CACNA1A-related disorders. For example, the International CACNA1A Deletion Syndrome Registry is a collection of clinical and genetic data from families affected by this rare deletion syndrome. These specialized databases and registries are valuable resources for researchers and healthcare professionals looking to study specific variants or mutations within the CACNA1A gene.

In recent years, genetic testing for CACNA1A variants has become more accessible, allowing for the identification of affected individuals and families. These tests can be used to confirm a clinical suspicion or provide genetic counseling for individuals with a family history of CACNA1A-related disorders.

Overall, the study of the CACNA1A gene and its associated disorders is a rapidly evolving field, with new insights and discoveries being made regularly. Gene and variant databases, such as OMIM and PubMed, along with specialized registries and genetic testing, are essential tools for building our understanding of the cellular and molecular function of the CACNA1A gene, as well as its role in causing neurological conditions.

References

• Gene: CACNA1A (OMIM)
• Frants RR, Ferrari MD, Terwindt GM. Genetic studies of migraine: Novel mutations in the CACNA1A gene. Cephalalgia. 2009;29(11):1260-1266.
• Vermeulen FL, Frants RR, Ferrari MD. Genetic and analytical studies do not support a major role for CACNA1A in migraine. Cephalalgia. 2019;39(11):1465-1472.
• Scheffer IE, Grinton BE, Heron SE, et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology. 2012;79(21):2104-2108.
• Epstein MP, Duren WL, Boehnke M. Improved inference of relationship for pairs of individuals. Am J Hum Genet. 2000;67(5):1219-1231.

Additional information about CACNA1A gene and related disorders can be found in the following resources:

• OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders: https://www.omim.org/
• Genetic Testing Registry, a database of genetic tests and testing laboratories: https://www.ncbi.nlm.nih.gov/gtr/
• PubMed, a database of scientific publications: https://pubmed.ncbi.nlm.nih.gov/