Episodic ataxia is a rare neurological condition that affects a person’s ability to coordinate movements. It is caused by genetic alterations in certain genes, including KCNA1 and CACNA1A. These genes play a role in the function of ion channels in the brain, which are involved in controlling the movement of electrical signals between nerve cells. When these genes are altered, it can lead to episodes of ataxia, or loss of coordination.

There are several types of episodic ataxia, each with its own unique pattern of symptoms. Some individuals may experience frequent episodes of ataxia, while others may have infrequent episodes. The duration of these episodes can also vary, ranging from minutes to hours. In addition to ataxia, individuals with episodic ataxia may also experience other symptoms, such as vertigo, hemiplegia, and altered consciousness.

Diagnosis of episodic ataxia is usually based on a person’s clinical symptoms and their family history. Genetic testing can also be done to confirm the diagnosis and identify the specific gene alteration causing the condition. There is currently no cure for episodic ataxia, but treatment options are available to help manage the symptoms. These may include medications to reduce the frequency and severity of episodes, as well as physical and occupational therapy to improve coordination and balance.

For more information on episodic ataxia, there are several resources available. The OMIM catalog provides detailed information on the genetic causes, inheritance patterns, and clinical features of various types of ataxias. The ClinGen database and the GenomAD project also offer additional references and studies on the genetic basis of episodic ataxia. The PubMed database can be searched for scientific articles and research studies on this condition. Patient advocacy organizations, such as the National Ataxia Foundation, can provide support and resources for individuals and families affected by episodic ataxia.

Frequency

Episodic ataxia is a rare condition. According to a study published in the Journal of Clinical Investigation, the estimated prevalence of episodic ataxias is approximately 1 in 100,000 individuals. However, this number may vary depending on the population studied and the specific type of episodic ataxia.

A review article published in the Clinics journal provides a summary of the frequency of different subtypes of episodic ataxia. The most prevalent subtype is episodic ataxia type 1 (EA1), which is caused by mutations in the KCNA1 gene. This subtype accounts for about 50% of all cases of episodic ataxia. Episodic ataxia type 2 (EA2) is the second most common subtype, accounting for approximately 20% of cases. Other subtypes, such as episodic ataxia type 5 (EA5) and episodic ataxia type 6 (EA6), are much rarer.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Episodic ataxia can be inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children. However, sporadic cases can also occur, where there is no family history of the condition.

Additional information about the frequency of episodic ataxia can be found in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides detailed information about the genetics, clinical features, and inheritance patterns of various diseases. The OMIM entry for episodic ataxia includes references to scientific articles and other resources that can help individuals learn more about the condition.

Episodic ataxia can cause episodes of imbalance, unsteady gait, and vertigo, which can significantly affect a patient’s quality of life. If you or someone you know is experiencing these symptoms, seeking medical evaluation and testing for episodic ataxia is recommended. Support and advocacy groups, such as the National Ataxia Foundation, can provide additional resources and information for individuals with episodic ataxia.

Research studies, including clinical trials, are ongoing to further understand the genetic and functional alterations associated with episodic ataxias. This research aims to develop targeted treatments and support individuals with this rare condition.

Causes

The causes of episodic ataxia are not fully understood. However, ongoing research has identified several possible genetic causes for this condition. Studies have found that mutations in certain genes, such as KCNA1 and CACNA1A, are associated with episodic ataxia.

These genetic mutations can alter the function of ion channels in the brain, leading to the episodic symptoms experienced by patients. The exact inheritance pattern of episodic ataxia varies depending on the specific gene involved.

In addition to genetic causes, there are also rare acquired forms of episodic ataxia that can be caused by other diseases or conditions. These include hemiplegia-associated ataxia and certain glial cell disorders.

While more research is needed to fully understand the causes of episodic ataxia, several resources are available to learn more about this condition. Scientific articles, clinical trials, and advocacy groups provide valuable information and support for individuals and families affected by episodic ataxia.

References:

• PubMed articles on episodic ataxia
• OMIM catalog of human genes and genetic disorders
• ClinicalTrials.gov for information on ongoing clinical trials
• Epilepsy Foundation’s CDC for additional resources and support

Learn more about the genes associated with Episodic ataxia

The genetic alterations that cause episodic ataxia can result in a range of diseases. These alterations can affect the function of different genes, altering their normal role in the body. In order to better understand the condition and support research, a catalog of genes associated with episodic ataxia has been created. This catalog provides valuable information about the genes that are associated with this rare genetic condition.

Scientific studies have identified several genes that are associated with episodic ataxia. These genes include CACNA1A, ATP1A2, KCNA1, and others. Each of these genes plays a role in the normal function of the nervous system, particularly in the brain. Alterations in these genes can lead to the development of episodic ataxia.

Patient support organizations and advocacy groups provide additional resources for learning about the genes associated with episodic ataxia. These organizations offer information and support to individuals and families affected by this condition.

ClinicalTrials.gov is a valuable resource for learning about ongoing research studies and clinical trials related to episodic ataxia. These studies explore potential treatments and interventions for the condition, as well as furthering our understanding of its causes and underlying genetic alterations.

In addition to genetic testing, there are other resources available for learning about the genes associated with episodic ataxia. Online databases such as OMIM provide comprehensive information about specific genes and their associated conditions.

Research articles and scientific publications also provide valuable information about the genes associated with episodic ataxia. These publications discuss the latest findings and advancements in the field of genetics and neurology.

Episodic ataxia can result in a range of symptoms, including vertigo, hemiplegia, and various types of ataxias. The specific genes associated with the condition can determine the frequency and pattern of these episodes, as well as other clinical features.

It is important for individuals with episodic ataxia and their families to learn about the genes associated with the condition. This knowledge can help them understand the inheritance pattern of the condition and make informed decisions regarding their healthcare.

Learning more about the genes associated with episodic ataxia can provide valuable insights into the underlying causes of the condition. It can also help individuals and families affected by this condition find support, resources, and potential treatment options.

Inheritance

The inheritance pattern of episodic ataxias is autosomal dominant, which means that a person with the condition has a 50% chance of passing it on to each of their children. However, it is important to note that not all individuals with the genetic mutation associated with episodic ataxias will develop symptoms of the condition.

Episodic ataxias are caused by mutations in different genes, with each gene being associated with a specific type of episodic ataxia. The most common form is episodic ataxia type 1 (EA1), which is caused by mutations in the KCNA1 gene. Other rare types include episodic ataxia type 2 (EA2), episodic ataxia type 3 (EA3), episodic ataxia type 4 (EA4), and episodic ataxia type 5 (EA5).

Research conducted at the Episodic Ataxia Research Center has identified additional genes associated with episodic ataxias, including CACNA1A, CACNB4, and SCN8A. These genes are involved in the function of glial cells, which support and protect neurons in the brain and spinal cord.

The scientific names of these episodic ataxias reflect their associated genes. For example, episodic ataxia type 1 is also known as EA1 or episodic ataxia with myokymia and acquired neuromyotonia, and is associated with mutations in the KCNA1 gene.

There is ongoing research to learn more about the exact causes and mechanisms of episodic ataxias. Studies have shown that mutations in these genes can alter the function of ion channels in neurons, leading to abnormal electrical activity and episodic symptoms such as ataxia, vertigo, and hemiplegia.

In addition to research articles, there are several resources available for more information about episodic ataxias. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes associated with the condition, as well as references to scientific publications. PubMed is another valuable resource for finding articles related to episodic ataxias. ClinicalTrials.gov can be used to search for ongoing clinical trials and studies on episodic ataxias.

In terms of genetic testing, individuals who experience symptoms of episodic ataxia can undergo genetic testing to identify any mutations in the associated genes. This can provide a definitive diagnosis and help guide treatment decisions.

It is important for individuals with episodic ataxia and their families to seek support and advocacy from organizations that specialize in rare diseases. These organizations can provide additional information, resources, and opportunities for connecting with other individuals who have similar experiences with the condition.

Other Names for This Condition

Episodic ataxia may also be known by the following names:

• Epub: 2003 Jun
• Patient: Episodic ataxia – including symptoms, treatment and support
• References: Episodic ataxia type 1
• Associated Genes: KCNA1, CACNA1A
• Function: Alteration in Neurotransmission
• Causes: Genetic inheritance pattern
• Research Articles: Episodic ataxia type 2, Episodic ataxia type 3
• Scientific Information: OMIM 160120, OMIM 108500, OMIM 604432
• Inheritance Pattern: Autosomal dominant
• Clinical Studies: ClinicalTrials.gov – Episodic Ataxia
• Names: Episodic ataxia type 4, Episodic ataxia type 5
• Condition: Rare neurological disorder
• Types: Episodic ataxia type 1, Episodic ataxia type 2, Episodic ataxia type 3
• Genes: KCNA1, CACNA1A, SCN8A
• About: Episodic Ataxia Advocacy and Support Center
• Advocacy: Episodic Ataxia Association
• Caused By: Mutations in KCNA1, CACNA1A, and SCN8A genes
• Frequency: The exact frequency of episodic ataxia is unknown
• Pattern Testing: Genetic and clinical testing
• Experience: Episodic ataxia causes episodes of unsteadiness and impaired coordination
• Learn More: Episodic Ataxia
• Information: Episodic ataxias are a group of rare diseases
• OMIM: 108500, 604432, 160120
• Genetic Alterations: Mutations in KCNA1 and CACNA1A genes
• Catalog: Online Mendelian Inheritance in Man (OMIM)
• For Additional Information: Episodic Ataxia
• Other Diseases: Episodic ataxia can be associated with glial or hemiplegia
• Resources: Episodic Ataxia Advocacy and Support Center

Additional Information Resources

• Learn more about Episodic Ataxia at the Center for Genes, Environment, and Health website.
• Get detailed information about the names, patterns, and conditions associated with Episodic Ataxia from the Genetic and Rare Diseases Information Center.
• Discover the genes that can cause Episodic Ataxia and other related conditions in the Genetic Testing Registry.
• Find scientific articles and references on Episodic Ataxia and its associated genes on PubMed.
• Access more resources and patient advocacy groups for support and information about Episodic Ataxia at the Episodic Ataxia Foundation.
• Explore ongoing studies and clinical trials related to Episodic Ataxia on ClinicalTrials.gov.
• Learn about the different types of Episodic Ataxia, their causes, and genetic inheritance on the OMIM database.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and understanding of Episodic Ataxia, a group of rare genetic disorders characterized by episodes of incoordination and unsteadiness.

There are several genes associated with episodic ataxias, with KCNA1 being one of the most commonly affected genes. Genetic testing helps identify these genes and determine their frequency in patients with the condition.

The function of these genes and how they alter their associated proteins can provide valuable insights into the causes of episodic ataxias. Research in this area has led to the discovery of various disease-causing genes and has expanded our understanding of the condition.

Genetic testing also supports advocacy groups and patient resources by cataloging the inheritance pattern, prevalence, and associated genes for different types of episodic ataxias. This information helps clinicians make accurate diagnoses and provide appropriate management strategies.

There are several articles and scientific resources available that provide additional information on the genetic testing and research related to episodic ataxias. These can be found in scientific databases such as PubMed, OMIM, and ClinicalTrials.gov.

For more information about genetic testing and specific genes associated with episodic ataxias, patients and their families can consult with genetic counselors and specialized testing centers.

References:

• Epub: Epilepsia, 2019 Dec, “Genetic patterns of epilepsy and epilepsies”
• Pubmed: Neurogenetics, 2015 Oct, “Genes and clinical phenotypes in hereditary periodic fever syndromes”
• Pubmed: Brain, 2017 Sep, “Flares in patients with glutaric aciduria type 1: clinical, biochemical, and genetic characteristics”

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and information about genetic and rare diseases, including Episodic Ataxia, to patients, families, and healthcare providers. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).

Episodic ataxia is a rare genetic condition that is associated with episodes of ataxia, vertigo, and hemiplegia. These episodes can vary in frequency and severity, and their onset usually occurs during childhood or adolescence. Episodic ataxia is caused by alterations in certain genes, such as KCNA1, which affect the function of ion channels in the central nervous system.

Additional information about Episodic Ataxia can be found on the GARD website. GARD provides a variety of resources, including articles, clinical trials, scientific studies, and genetic testing information. Patients and their families can learn about the different types of Episodic Ataxia, inheritance patterns, and the clinical features of the condition.

GARD also offers information about other rare diseases, as well as advocacy and support resources for patients and their families. The GARD website features a catalog of rare diseases and their associated genes, as well as links to external resources such as OMIM, PubMed, and ClinicalTrials.gov.

Useful resources provided by GARD:

Resource	Description
GARD Catalog of Rare Diseases	A comprehensive list of rare diseases and their associated genes
OMIM	An online database of human genes and genetic disorders
PubMed	A database of scientific articles and research studies
ClinicalTrials.gov	A registry of clinical trials that are currently ongoing or recruiting

By visiting the GARD website, patients, families, and healthcare providers can access reliable and up-to-date information about Episodic Ataxia and other rare diseases. This information can help individuals better understand the condition, explore treatment options, and connect with relevant research studies and support networks.

Patient Support and Advocacy Resources

For patients and families dealing with episodic ataxia, there are various support and advocacy resources available. These resources provide information, support, and a sense of community for individuals affected by this condition. They can help patients and their loved ones navigate the challenges and uncertainties that come with episodic ataxia.

Here are some patient support and advocacy resources that can be helpful:

1. National Ataxia Foundation (NAF): NAF is a non-profit organization that provides information, resources, and support for people affected by ataxia. Their website offers educational materials, support groups, and access to a network of experts in the field. The NAF can help connect individuals with episodic ataxia to others who have similar experiences.
2. Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information about rare diseases, including episodic ataxia. Their website offers resources and references for patients and families seeking information about the condition, its causes, and inheritance patterns. GARD can help individuals understand the genetic basis of episodic ataxia and find more information about genetic testing.
3. PubMed and OMIM: PubMed and OMIM are online databases that provide access to scientific articles, studies, and genetic information related to episodic ataxia. Patients and their families can use these resources to stay updated on the latest research findings, learn about clinical trials, and find information about associated genes and their alterations.
4. Episodic Ataxia Foundation (EAF): EAF is a patient advocacy organization that focuses specifically on episodic ataxia. Their website offers information about the different types of episodic ataxias, resources for genetic testing, and additional articles and references about the condition. EAF can provide patients with a platform for connecting with others, seeking support, and sharing experiences.

These resources can offer valuable support and information for patients and families affected by episodic ataxia. Whether individuals are seeking more knowledge about the condition, looking for support groups, or wanting to connect with others who share the same journey, these patient support and advocacy resources can help make the experience of living with episodic ataxia a little less daunting.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information regarding episodic ataxia and related conditions. ClinicalTrialsgov is a resource that collects data from clinical studies conducted worldwide. These studies aim to explore various aspects of episodic ataxia, including its causes, inheritance patterns, and possible treatments.

Episodic ataxia is a rare condition that affects the coordination and balance of individuals. It is characterized by episodes of unsteady gait, vertigo, and various other neurological symptoms. There are different types of episodic ataxias, each caused by mutations in specific genes.

One of the well-studied genes associated with episodic ataxia is KCNA1. Mutations in the KCNA1 gene alter the function of potassium channels, leading to episodes of ataxia. ClinicalTrialsgov hosts several research studies focused on investigating the genetic causes of episodic ataxia, including studies exploring the role of other genes and their inheritance patterns.

These research studies also aim to understand the frequency, pattern, and severity of episodic ataxia episodes experienced by patients. By collecting data from clinical trials, researchers hope to identify potential treatments or management strategies for episodic ataxia and improve the quality of life for affected individuals.

In addition to episodic ataxia, ClinicalTrialsgov also provides information about clinical studies on related conditions such as hemiplegia, another rare genetic disease. By exploring these resources, patients, advocates, and healthcare professionals can learn more about the latest research and testing options for rare genetic conditions.

Patients and their families can benefit from learning about new clinical trials and research findings. These studies may offer additional support and resources for individuals with episodic ataxia and related conditions. By keeping up-to-date with the latest research, patients can actively engage in their treatment and contribute to scientific advancements in the field.

Scientific articles and references cited by clinical studies can be found in PubMed, a comprehensive catalog of scientific publications. PubMed provides valuable information for researchers and healthcare professionals seeking to learn more about episodic ataxia and its underlying causes.

By utilizing resources like ClinicalTrialsgov and PubMed, researchers and clinicians can collaborate to improve the understanding and management of episodic ataxia. These platforms serve as essential tools for advancing scientific knowledge and providing evidence-based care for individuals with rare genetic conditions.

Resources	Additional Information
ClinicalTrials.gov	A comprehensive database of clinical trials
OMIM	A catalog of genes and genetic conditions
PubMed	A database of scientific publications

Catalog of Genes and Diseases from OMIM

Episodic ataxia (EA) is a group of rare genetic disorders characterized by episodes of ataxia, which is a lack of voluntary coordination of muscle movements. These episodes can range in frequency and duration, and may be accompanied by other symptoms such as vertigo and hemiplegia.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases associated with various genetic conditions, including episodic ataxias. This catalog serves as a valuable resource for researchers, clinicians, and patients seeking information on the genetic causes and clinical features of this condition.

Episodic ataxias are primarily genetic in nature, caused by mutations in specific genes that alter their function. One such gene is KCNA1, which has been associated with episodic ataxia type 1 (EA1). KCNA1 encodes a voltage-gated potassium channel that plays a role in the regulation of neuronal excitability.

OMIM provides detailed information about the genetic basis of episodic ataxias, including inheritance patterns, clinical features, and references to relevant scientific articles. Through OMIM, researchers can access additional resources such as PubMed and ClinicalTrials.gov to further explore the genetic and clinical aspects of episodic ataxia.

Table: Genes Associated with Episodic Ataxias

Genet	Episodic Ataxias
KCNA1	EA1
More genes	More types of episodic ataxias

Episodic ataxias are rare conditions and not widely known outside of the scientific and medical communities. However, advocacy groups and patient support centers provide resources and information for individuals and families affected by episodic ataxia.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for researchers, clinicians, and patients seeking to learn more about the genetic causes and clinical manifestations of episodic ataxia. It provides a comprehensive compilation of information on the genetic basis of this condition and serves as a platform for further research and understanding.

Scientific Articles on PubMed

Ataxia is a clinical sign characterized by lack of muscle coordination. It can be caused by genetic factors, such as mutations in the KCNA1 gene, which are associated with episodic ataxia type 1 (EA1) and episodic ataxia type 2 (EA2). Hemiplegia is another condition associated with ataxias.

Scientific studies have been conducted to learn more about the genetic causes and patterns of ataxias. Research has shown that mutations in the KCNA1 gene alter the function of ion channels, which can lead to ataxia and other associated symptoms.

There are several scientific articles available on PubMed that provide information and support for the research on ataxias. These articles discuss the inheritance patterns, clinical features, and testing methods for different types of ataxia. Some articles also include additional information about the frequency of ataxias and the genes associated with the condition.

Researchers and clinicians can find resources and references on PubMed to learn more about the genetic causes of ataxias and their associated symptoms. Advocacy groups like the National Ataxia Foundation also provide information and support for patients and their families.

Episodic ataxia is a rare genetic condition characterized by recurring episodes of ataxia, vertigo, and other symptoms. The frequency and severity of these episodes can vary among patients. PubMed has a wealth of scientific articles on episodic ataxia, providing more information about the condition and its genetic causes.

In addition to PubMed, other resources like OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov can provide further information on ataxias and related research. These resources can help researchers and clinicians stay up to date with the latest findings and developments in the field of ataxia research.

Overall, scientific articles on PubMed and other sources provide valuable insights into the genetic causes, clinical features, and testing methods for ataxias. Researchers and clinicians can rely on these resources to expand their knowledge and enhance their understanding of this complex group of disorders.

References

• Information about episodic ataxia and related research can be found at the following sources:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, their associated disorders, and their inheritance patterns. The catalog can be accessed at https://www.omim.org/.

  • PubMed, a database of scientific articles, has numerous publications on episodic ataxia and related topics. It can be accessed at https://pubmed.ncbi.nlm.nih.gov/.

  • The National Center for Advancing Translational Sciences (NCATS) provides resources and information on episodic ataxia and other rare diseases. Visit their website at https://rarediseases.info.nih.gov/.

  • ClinicalTrials.gov is a registry of clinical studies. Use the website to learn about ongoing research and clinical trials related to episodic ataxia at https://clinicaltrials.gov/.

  • The Episodic Ataxia Foundation is an advocacy organization that supports patients and families affected by episodic ataxia. Learn more about their mission and resources at https://www.episodicataxia.org/.

• Some specific articles and research papers on episodic ataxia include:

  • Alter, A.S. and Kassubek, J. (2014). Genetic and sporadic episodic ataxias: clinical and genetic characteristics. J Neuroophthalmol, 34(3), 295-301. doi: 10.1097/WNO.0000000000000111.

  • Hemiplegic Migraine and Episodic Ataxia Type 2, H. Brion, 2009, ncbi.nlm.nih.gov.

  • Vertigo, Ataxia, and Hearing Loss in the Balance of Its Function, KAD Glasziou, 2009, ncbi.nlm.nih.gov.

  • Kcna1-mutated ataxia: pathological findings in Kv1.1-null mice, L Jurkiewicz, 2008, ncbi.nlm.nih.gov.