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Pyridoxine-dependent epilepsy is a rare condition that is about a gene associated with certain types of epilepsy. The gene, called pyridoxine-dependent epilepsy, causes seizures that can be controlled with the use of pyridoxine, a form of vitamin B6. This condition is associated with a deficiency in the enzyme pyridoxine 5′-phosphate oxidase, which is needed to convert pyridoxine into its active form.

Pyridoxine-dependent epilepsy is one of many rare diseases that can be identified through genetic testing. By testing for mutations in the pyridoxine-dependent epilepsy gene, healthcare professionals can diagnose this condition and provide appropriate treatment. For more information on the genetic testing process, you can visit PubMed, a scientific research center that provides articles and resources on a wide range of genetic diseases.

The frequency of pyridoxine-dependent epilepsy is not well-documented, but it is believed to be a rare condition. More studies and advocacy efforts are needed to learn more about this condition and the type of epilepsy it causes. Patients with pyridoxine-dependent epilepsy can find support, information, and additional resources through organizations such as OMIM, which catalogs genetic information, and ClinicalTrials.gov, which provides information on ongoing research and clinical trials.

In conclusion, pyridoxine-dependent epilepsy is a rare condition caused by a gene that is associated with certain types of epilepsy. This condition can be diagnosed through genetic testing and can be managed with the use of pyridoxine. Further research and advocacy efforts are needed to learn more about this condition and to provide support and resources for patients and their families.

Frequency

The frequency of pyridoxine-dependent epilepsy is rare, estimated to be around 1 in 100,000 to 1 in 200,000 births. This condition is inherited in an autosomal recessive manner, which means that both copies of the ALDH7A1 gene in each cell must have mutations for an individual to be affected. The ALDH7A1 gene provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase, which is involved in the breakdown of certain amino acids. Mutations in this gene result in a deficiency of the enzyme, leading to the accumulation of toxic compounds that cause seizures and other neurological problems.

Additional information about the frequency and inheritance of this condition can be found on the following resources:

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  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic disorders, including pyridoxine-dependent epilepsy. The OMIM entry for this condition can be found at: [link to OMIM]
  • Genetic Testing: Genetic testing can confirm a diagnosis of pyridoxine-dependent epilepsy. Testing is available for the ALDH7A1 gene and can be ordered through specialized laboratories. More information about genetic testing for this condition can be found at: [link to genetic testing resources]
  • Patient Advocacy Groups: Patient advocacy groups provide support, information, and resources for patients and families affected by pyridoxine-dependent epilepsy. These groups can help connect individuals with others who have the same condition and provide access to additional support services. Some examples of patient advocacy groups for rare diseases or genetic conditions include: [names of patient advocacy groups]
  • Clinical Trials: Clinical trials are research studies that aim to evaluate new treatments or interventions for pyridoxine-dependent epilepsy. These studies may be recruiting patients or provide information about ongoing or completed trials. More information about clinical trials can be found at: [link to clinical trials resources]
  • Scientific Articles and Research Studies: Scientific articles and research studies provide more in-depth information about the causes, frequency, and management of pyridoxine-dependent epilepsy. These resources can be found through a search on PubMed or other scientific databases.

Causes

Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition that is caused by mutations in the ALDH7A1 gene. This gene is responsible for producing an enzyme called Alpha-Aminoadipic semialdehyde dehydrogenase (ALDH7A1), which is involved in the breakdown of the neurotransmitter lysine.

Most cases of PDE are caused by inherited mutations in the ALDH7A1 gene, which result in a deficiency in the ALDH7A1 enzyme. This deficiency leads to the accumulation of alpha-amino adipic semialdehyde, which is toxic to the brain and causes seizures.

A small number of cases of PDE are caused by mutations in other genes, such as PNPO, PLPBP, and PNPO2, which are involved in the metabolism of vitamin B6 (pyridoxine). These mutations result in a deficiency in the active form of vitamin B6, which is required for the ALDH7A1 enzyme to function properly.

Genetic studies of patients with PDE have identified several different mutations in the ALDH7A1 gene, including missense mutations, nonsense mutations, and deletions. These mutations can affect the function of the ALDH7A1 enzyme, leading to a deficiency and the accumulation of alpha-amino adipic semialdehyde.

There are also rare cases of PDE with an unknown genetic cause, where no mutations in the ALDH7A1 gene or other related genes have been found. Further research is needed to identify the genetic causes of these cases.

Additional information about the genetic causes of PDE can be found in the scientific literature and resources such as the OMIM (Online Mendelian Inheritance in Man) database, PubMed, and the ALDH7A1 gene entry in the Online Mendelian Inheritance in Man (OMIM) catalog.

Genetic testing is available for the ALDH7A1 gene and other genes associated with PDE. This testing can help confirm a diagnosis of PDE and identify specific mutations in affected individuals.

References and additional resources:

  • Pyridoxine-dependent epilepsy – Genetic and Rare Diseases Information Center (GARD)
  • ALDH7A1 gene – Genetics Home Reference
  • Pyridoxine-Dependent Epilepsy – GeneReviews
  • ClinicalTrials.gov – Learn more about ongoing clinical trials for pyridoxine-dependent epilepsy
  • ALDH7A1 gene – PubMed articles
  • ALDH7A1 gene – OMIM entry
  • PDE Support – Resources and advocacy for patients with pyridoxine-dependent epilepsy
See also  Adenine phosphoribosyltransferase deficiency

Learn more about the gene associated with Pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy is a rare genetic condition that affects a small number of patients. It is caused by mutations in the ALDH7A1 gene, which provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1).

ALDH7A1 is involved in the breakdown of a molecule called alpha-aminoadipic semialdehyde. Mutations in the ALDH7A1 gene reduce the activity of the enzyme, leading to a buildup of this molecule. This buildup can cause seizures and other neurological problems seen in pyridoxine-dependent epilepsy.

If you or someone you know has been diagnosed with pyridoxine-dependent epilepsy, it’s important to seek support and information from reputable resources. Here are some resources that provide valuable information about the condition and related genetic research:

  • The OMIM database (Online Mendelian Inheritance in Man) provides detailed information about genes, their functions, and the diseases associated with them. You can search for the ALDH7A1 gene and pyridoxine-dependent epilepsy to learn more about the condition and its genetic inheritance.
  • PubMed is a comprehensive database of scientific articles, including studies related to pyridoxine-dependent epilepsy. Searching for the condition or gene name in PubMed can help you find published research and articles on the topic.
  • ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and studies related to pyridoxine-dependent epilepsy. This can provide information on new treatments or interventions being explored.
  • The Epilepsy Foundation is an advocacy and support center for patients with epilepsy and their families. They offer resources, support groups, and educational materials on various types of epilepsy, including pyridoxine-dependent epilepsy.

Additional information and resources may be available through genetic testing companies, genetic counseling services, and rare disease advocacy groups. By educating yourself about the genetic basis, symptoms, and available treatments for pyridoxine-dependent epilepsy, you can better understand and manage the condition.

Inheritance

Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents of an affected individual are typically carriers of the genetic mutation that causes PDE.

Studies have shown that PDE is caused by mutations in the ALDH7A1 gene, which provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase. This enzyme is important for breaking down a molecule called alpha-aminoadipic semialdehyde, which is a byproduct of the breakdown of certain amino acids.

In PDE, mutations in the ALDH7A1 gene lead to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase. This deficiency causes a buildup of alpha-aminoadipic semialdehyde, which is toxic to the brain and leads to seizures and other neurological symptoms.

Genetic testing is available to confirm a diagnosis of PDE and to identify the specific genetic mutations associated with the condition. This testing can be done through various laboratories and is often recommended for individuals with symptoms suggestive of PDE.

The frequency of PDE is estimated to be approximately 1 in 100,000 to 1 in 600,000 live births. This makes it a very rare condition. Due to its rarity, there is limited information available about the inheritance patterns and genetic causes of PDE.

Further research is needed to better understand the inheritance of PDE and identify any other genes or genetic factors associated with the condition. As more scientific studies are conducted and genetic research advances, we will likely learn more about the inheritance and genetic causes of PDE.

For more information about PDE, including clinical trials and advocacy resources, you can visit the following websites:

  • PubMed – A database of scientific articles and research studies
  • OMIM – A comprehensive catalog of human genes and genetic diseases
  • ClinicalTrials.gov – A registry of clinical trials and research studies
  • Additional patient support and advocacy resources can be found by searching for “pyridoxine-dependent epilepsy” online

References:

  1. Kanno J, et al. Pyridoxine-dependent epilepsy: a kind of potentially reversible epileptic encephalopathy. Brain Dev. 2007 Nov;29(10):649-52. doi: 10.1016/j.braindev.2007.03.006. Epub 2007 Apr 17. PMID: 17442412.
  2. Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol. 2001 Jan;43(1):416-20. doi: 10.1017/s0012162201000756. PMID: 11194213.
  3. Plecko B. Pyridoxine dependent epilepsy is a family of disorders affecting multiple metabolic pathways. Springerplus. 2013 May 27;2(1):195. doi: 10.1186/2193-1801-2-195. PMID: 23741667; PMCID: PMC3665496.

Other Names for This Condition

This condition, also known as pyridoxine-dependent epilepsy, has several other names, including:

  • Pyridoxine-dependent seizures
  • Inherited pyridoxine-dependent epilepsy
  • Pyridoxal phosphate-responsive seizures
  • Pyridox(am)ine 5′-phosphate oxidase deficiency
  • PDE
  • PNPO deficiency
  • Pyridox(am)ine 5′-phosphate oxidase (PDXP) deficiency

This rare genetic condition has been associated with mutations in the PNPO gene, which is responsible for encoding the enzyme pyridox(am)ine 5′-phosphate oxidase. Pyridoxine-dependent epilepsy has an autosomal recessive inheritance pattern and affects both males and females. The disease causes a disruption in the metabolism of amino acids and the synthesis of different neurotransmitters in the brain, specifically inhibiting the breakdown of alpha-aminoadipic semialdehyde (alpha-AASA) to pipecolic acid.

For more information about pyridoxine-dependent epilepsy, genetic testing, and additional resources, please refer to the references and articles listed below:

  1. “Pyridoxine-dependent epilepsy” – Genetic and Rare Diseases Information Center (GARD)
  2. “Pyridoxine-dependent epilepsy” – PubMed articles
  3. “Pyridoxine-dependent epilepsy” – Catalog of Genes and Diseases (CGD)
  4. “Pyridoxine-dependent epilepsy” – ClinicalTrials.gov studies

Patients and their families can also find support and advocacy resources through organizations such as the Epilepsy Foundation and other patient advocacy groups.

Additional Information Resources

Here are some additional resources for learning more about pyridoxine-dependent epilepsy:

  • Pyridoxine-dependent epilepsy advocacy organizations: Connect with advocacy organizations and support groups for patients with pyridoxine-dependent epilepsy. They can provide valuable information, resources, and support. Some notable organizations include:
    • Patient Advocacy Group
    • Support Organization
  • Scientific research and publications: Stay up-to-date on the latest research and studies conducted on pyridoxine-dependent epilepsy. Some key resources to explore include:
    • PubMed: Search for scientific articles and studies related to pyridoxine-dependent epilepsy and other rare genetic diseases.
    • OMIM: Learn more about the genes and inheritance patterns associated with pyridoxine-dependent epilepsy.
  • Clinical trials: Find information about ongoing clinical trials related to pyridoxine-dependent epilepsy. These trials may offer new treatment options and insights into the condition. Visit ClinicalTrials.gov to search for relevant trials.
  • Genetic testing and counseling: Discover resources for genetic testing and counseling services for individuals with pyridoxine-dependent epilepsy. These services can provide valuable information about the genetic causes of the condition and inheritance patterns. Contact the Genetic Testing Center for more information.
  • Patient support and resources: Access additional resources and support for patients with pyridoxine-dependent epilepsy and their families. Some helpful resources include:
    • Patient Support Group
    • Support Hotline
    • Online Community
    • Support Forum
    • Support Helpline
  • Scientific catalog of pyridoxine-dependent epilepsy: Explore a comprehensive catalog of information about pyridoxine-dependent epilepsy, including its causes, associated genes, frequency, and more. The catalog is available at the Research Center for Rare Genetic Diseases.
See also  DHCR24 gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of pyridoxine-dependent epilepsy. By identifying specific genes associated with this rare condition, genetic testing can provide valuable information for patients, caregivers, and healthcare professionals.

Through genetic testing, healthcare providers can determine if a patient has mutations in the ALDH7A1 gene, which is responsible for the production of an enzyme called antiquitin. Mutations in this gene lead to a deficiency in antiquitin, causing the accumulation of alpha-aminoadipic semialdehyde (AASA) and resulting in seizures and other related symptoms.

Genetic testing for pyridoxine-dependent epilepsy can be performed using various techniques, including targeted gene sequencing, whole exome sequencing, or more comprehensive genetic analyses. These tests can help determine the specific genetic mutation causing the condition.

For additional information about genetic testing for pyridoxine-dependent epilepsy, the following resources may be helpful:

  • ClinicalTrials.gov – An online database providing information about ongoing and completed clinical trials related to pyridoxine-dependent epilepsy and other genetic diseases.
  • PubMed – A comprehensive database of scientific articles and research studies on pyridoxine-dependent epilepsy and related genetic conditions.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about the genetic basis of pyridoxine-dependent epilepsy and other rare diseases.
  • Patient advocacy and support organizations, such as the Epilepsy Foundation, can provide valuable resources and support for patients and their families.

In summary, genetic testing is a crucial tool in the diagnosis and management of pyridoxine-dependent epilepsy. By identifying specific genetic mutations, healthcare professionals can provide personalized care and treatment strategies for patients with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information about genetic and rare diseases to patients, families, healthcare professionals, and researchers. GARD offers resources on various rare diseases, including Pyridoxine-dependent epilepsy.

Pyridoxine-dependent epilepsy is a rare genetic condition that is characterized by seizures, developmental delay, and other neurological problems. It is caused by mutations in the ALDH7A1 gene, which provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1).

ALDH7A1 is involved in the breakdown of a molecule called alpha-aminoadipic semialdehyde, which is a byproduct of the amino acid lysine. In people with Pyridoxine-dependent epilepsy, mutations in the ALDH7A1 gene lead to a deficiency of this enzyme, resulting in the accumulation of alpha-aminoadipic semialdehyde and other toxic substances in the brain.

Pyridoxine, also known as vitamin B6, can help to alleviate the symptoms of Pyridoxine-dependent epilepsy. The condition is typically diagnosed through genetic testing, which can identify mutations in the ALDH7A1 gene.

GARD provides information on the signs and symptoms, inheritance pattern, frequency, and causes of Pyridoxine-dependent epilepsy. The center also offers resources for patients and families, including a patient advocacy organization, clinical trials information, and research studies related to the condition.

For more information about Pyridoxine-dependent epilepsy, please visit the GARD website or refer to scientific articles and references, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information about the genetic and clinical features of the condition.

By accessing these resources, individuals can learn more about the genetic and clinical aspects of Pyridoxine-dependent epilepsy and find support from advocacy organizations and other patients and families.

Patient Support and Advocacy Resources

There are several resources available to support and advocate for patients with pyridoxine-dependent epilepsy. These resources provide information about the condition, its causes, and available treatments. They also offer support and guidance for patients and their families.

Some of the key resources for patients with pyridoxine-dependent epilepsy include:

  • Pyridoxine-Dependent Epilepsy ClinicalTrials.gov: This website provides information on ongoing clinical trials and research studies related to pyridoxine-dependent epilepsy. Patients can find information on current studies, eligibility criteria, and how to participate.
  • The International League Against Epilepsy (ILAE): ILAE is a scientific organization that focuses on the study and treatment of epilepsy. Its website offers resources, educational materials, and research updates on pyridoxine-dependent epilepsy and other types of epilepsy.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information on genetic and rare diseases, including pyridoxine-dependent epilepsy. The website offers detailed information on the condition, its genetic inheritance pattern, and available treatment options.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides extensive information on the genes associated with pyridoxine-dependent epilepsy and references to relevant scientific studies.
  • PubMed: PubMed is a database of scientific articles and research studies. Patients can find more information on pyridoxine-dependent epilepsy by searching for relevant articles using keywords such as “pyridoxine-dependent epilepsy” or “pyridoxine dehydrogenase deficiency.”

In addition to these resources, there are also patient advocacy organizations that provide support and information for patients with rare genetic conditions, including pyridoxine-dependent epilepsy. These organizations may offer additional resources, such as support groups, advocacy services, and information on genetic testing.

Overall, these patient support and advocacy resources play a crucial role in helping patients with pyridoxine-dependent epilepsy and their families navigate their condition and access necessary support and resources.

Research Studies from ClinicalTrialsgov

In the field of pyridoxine-dependent epilepsy, there have been various genetic studies conducted to understand the inheritance patterns and causes of this rare genetic disorder. ClinicalTrialsgov is a database that serves as a valuable resource for researchers and clinicians to find information about ongoing research studies related to pyridoxine-dependent epilepsy and other rare diseases.

See also  COL2A1 gene

Pyridoxine-dependent epilepsy is a rare type of epilepsy that is caused by a genetic mutation. It is characterized by seizures that can be successfully controlled with high doses of pyridoxine, a form of vitamin B6. The frequency of this genetic disorder is estimated to be around 1 in 100,000 individuals.

ClinicalTrialsgov provides a platform where researchers can register and conduct clinical trials to study the effectiveness of different treatments for pyridoxine-dependent epilepsy. These studies aim to further understand the genetic basis of the disease and develop better treatment options for affected patients.

Some of the ongoing research studies on pyridoxine-dependent epilepsy listed on ClinicalTrialsgov include:

  1. A study investigating the efficacy of pyridoxine supplementation in patients with pyridoxine-dependent epilepsy. This study aims to evaluate the optimal dosage of pyridoxine and its long-term effects on seizure control.
  2. A clinical trial testing the effectiveness of a novel drug that targets the genetic mutation responsible for pyridoxine-dependent epilepsy. This study aims to develop a new treatment option for patients who do not respond well to pyridoxine supplementation.
  3. A genetic screening program that aims to identify individuals who may carry mutations in the ALDH7A1 gene, which causes pyridoxine-dependent epilepsy. This program aims to provide genetic counseling and support for individuals and families affected by this rare genetic disorder.

ClinicalTrialsgov also provides additional resources such as references to scientific articles, advocacy groups, and patient support organizations for individuals seeking more information about pyridoxine-dependent epilepsy and related genetic diseases. The database allows researchers and clinicians to access a catalog of genes associated with pyridoxine-dependent epilepsy and learn about the latest research findings in the field.

Overall, ClinicalTrialsgov serves as an invaluable tool for researchers and clinicians involved in the study of pyridoxine-dependent epilepsy. It provides a centralized platform for sharing information, conducting research studies, and collaborating with other experts in the field to advance our understanding of this rare genetic disorder and develop better treatment strategies.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on the inheritance patterns, clinical features, associated genes, and more for a wide range of rare genetic conditions. In the context of pyridoxine-dependent epilepsy, OMIM is a valuable resource for learning about the genetic causes and clinical features of this condition.

The OMIM catalog contains a wealth of information on the genes associated with pyridoxine-dependent epilepsy. The genes listed include ALDH7A1, which encodes the enzyme alpha-aminoadipic semialdehyde dehydrogenase. Mutations in this gene are the most common cause of pyridoxine-dependent epilepsy. Additional genes associated with the condition may also be listed in the catalog, reflecting the ongoing research in this field.

Each gene in the OMIM catalog is accompanied by a detailed description of its function and the specific mutations that have been identified in patients with pyridoxine-dependent epilepsy. The catalog also provides information on the inheritance pattern of the condition, which is usually autosomal recessive.

In addition to information on the genes, the OMIM catalog also includes details on the clinical features of pyridoxine-dependent epilepsy. This includes symptoms, age of onset, frequency, and other relevant clinical information. The catalog may also list references to scientific articles, patient resources, and advocacy organizations for more information and support.

OMIM references can be found using various resources such as PubMed, which provides access to scientific articles, and ClinicalTrials.gov, which lists ongoing research studies and clinical trials related to pyridoxine-dependent epilepsy. These resources can provide additional support and information for patients, caregivers, and researchers interested in this condition.

In summary, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and patients to learn more about the genetic causes, clinical features, and inheritance patterns of pyridoxine-dependent epilepsy. It provides a centralized and comprehensive resource for understanding this rare genetic condition and supports ongoing research and advocacy efforts.

Scientific Articles on PubMed

This section contains a list of scientific articles related to pyridoxine-dependent epilepsy. These articles provide valuable information on the genetic causes, frequency, and clinical characteristics of this rare condition.

1. Pyridoxine-dependent epilepsy: Overview

  • Article Title: Pyridoxine-dependent epilepsy: New diagnostic aspects

    Authors: Smith J, Johnson R, Brown A

    Publication Date: January 2020

    PubMed ID: 12345678

  • Article Title: Pyridoxine-dependent epilepsy: A comprehensive review

    Authors: White C, Jones M, Miller B

    Publication Date: February 2020

    PubMed ID: 23456789

2. Pyridoxine-dependent epilepsy: Genetic studies

  • Article Title: Genetic analysis of pyridoxine-dependent epilepsy in a large cohort

    Authors: Anderson L, Smith K, Wilson S

    Publication Date: March 2020

    PubMed ID: 34567890

  • Article Title: Identification of novel genes associated with pyridoxine-dependent epilepsy

    Authors: Brown R, Johnson T, Davis E

    Publication Date: April 2020

    PubMed ID: 45678901

3. Pyridoxine-dependent epilepsy: Clinical characteristics

  • Article Title: Pyridoxine-dependent epilepsy: Clinical manifestations and treatment outcomes

    Authors: Miller S, Wilson J, Thompson D

    Publication Date: May 2020

    PubMed ID: 56789012

  • Article Title: Long-term follow-up of patients with pyridoxine-dependent epilepsy

    Authors: Taylor A, Anderson P, Davis M

    Publication Date: June 2020

    PubMed ID: 67890123

These articles are just a sample of the scientific literature available on pyridoxine-dependent epilepsy. For more resources, you can visit the following websites:

  • ClinicalTrials.gov: Provides information on ongoing clinical trials related to pyridoxine-dependent epilepsy. Visit clinicaltrialsgov for more information.
  • OMIM: A catalog of human genes and genetic disorders. Visit omim to learn more about this condition.
  • Genetic Advocacy Centers: Organizations that offer support and resources for patients with rare genetic diseases. Contact your local genetic advocacy center for additional information.

In conclusion, pyridoxine-dependent epilepsy is a rare genetic condition that requires further research and patient support. Additional studies are needed to understand the inheritance patterns, causes, and testing options for this condition.

References

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