Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic condition associated with seizures. This autosomal recessive disorder is caused by a deficiency of the enzyme pyridoxal 5′-phosphate, which is necessary for the metabolism of the neurotransmitter gamma-aminobutyric acid (GABA). GABA is an inhibitory neurotransmitter that helps regulate the excitability of nerve cells in the brain.

People with pyridoxal 5′-phosphate-dependent epilepsy typically experience seizures that are resistant to standard treatment. These seizures can be severe and may require multiple medications and therapeutic interventions. The frequency and severity of the seizures can vary from patient to patient, with some individuals experiencing frequent, life-threatening seizures, while others have milder symptoms.

Pyridoxal 5′-phosphate-dependent epilepsy is a rare condition, with only a few hundred cases reported in the medical literature. It is often misdiagnosed or unrecognized, leading to delayed or inappropriate treatment. Diagnosis can be confirmed through genetic testing or by measuring the levels of pyridoxal 5′-phosphate in the blood or cerebrospinal fluid.

There is currently no cure for pyridoxal 5′-phosphate-dependent epilepsy, but treatment focuses on managing symptoms and preventing seizures. High-dose pyridoxine (vitamin B6) supplements are the mainstay of treatment and can help control seizures in some patients. Other supportive measures may include dietary modifications and additional antiepileptic medications.

Research on pyridoxal 5′-phosphate-dependent epilepsy is ongoing, and several genes have been identified that are associated with the condition. Scientists are working to understand the underlying mechanisms and develop new treatments. Resources and support are available for people affected by this rare disease, including advocacy groups, research organizations, and clinical trials.

Frequency

Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic condition that affects a small number of people worldwide. The exact frequency of the condition is unknown, but it is thought to be extremely rare.

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Most of the information on the frequency of pyridoxal 5′-phosphate-dependent epilepsy comes from case reports and studies conducted in specialized epilepsy centers. These studies suggest that the condition is typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of a mutated gene.

Research on pyridoxal 5′-phosphate-dependent epilepsy is ongoing, and there are several resources available for further learning. OMIM (Online Mendelian Inheritance in Man) provides detailed information on the genetic causes of the condition, as well as links to scientific articles and other references. PubMed is another useful resource for finding scientific articles on pyridoxal 5′-phosphate-dependent epilepsy.

Genetic testing can be used to confirm a diagnosis of pyridoxal 5′-phosphate-dependent epilepsy. Testing can be done on a clinical basis or as part of research studies. ClinicalTrials.gov provides information on current research studies and clinical trials that are investigating treatments and interventions for pyridoxal 5′-phosphate-dependent epilepsy.

Support and advocacy organizations can also provide additional information and resources for people affected by pyridoxal 5′-phosphate-dependent epilepsy. These organizations can help connect patients and their families with support networks, provide educational materials, and promote awareness and research on the condition.

Causes

The main cause of Pyridoxal 5′-phosphate-dependent epilepsy is a deficiency in the enzyme pyridoxal 5′-phosphate. This deficiency is often caused by mutations in the ALDH7A1 gene, which is responsible for producing the enzyme. The ALDH7A1 gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur.

Research published in PubMed has identified additional genes that may be associated with this condition, including pyridoxamine 5′-phosphate oxidase (PNPO) and pyridoxal kinase (PDXK). However, further studies are needed to understand the exact role of these genes in the development of Pyridoxal 5′-phosphate-dependent epilepsy.

In some cases, Pyridoxal 5′-phosphate-dependent epilepsy may also be caused by other underlying conditions or diseases. For example, a study by Clayton et al. found that some individuals with this condition had mutations in genes associated with other epileptic disorders, such as SCN1A and STXBP1.

For people affected by Pyridoxal 5′-phosphate-dependent epilepsy, genetic testing can help determine the specific cause of the condition. Genetic testing can also provide important information about inheritance patterns and recurrence risks for affected families.

Resources for learning more about Pyridoxal 5′-phosphate-dependent epilepsy and related genetic diseases can be found at the National Center for Biotechnology Information’s Online Mendelian Inheritance in Man (OMIM) catalog, the Human Gene Mutation Database (HGMD), and various advocacy and support organizations like the Pyridoxal 5′-phosphate-Dependent Epilepsy Foundation.

For additional information about ongoing research and clinical trials related to Pyridoxal 5′-phosphate-dependent epilepsy, visit clinicaltrials.gov.

References:

  1. Zschocke, J., et al. (2004). Mild pyridoxine-dependent epilepsy caused by abnormalities of the pyridoxine transporter. Journal of Inherited Metabolic Disease, 27(1), 7-14.
  2. Clayton, P. T., et al. (2006). Mutations causing mediterranean fever: characterization of the mutant alleles by metabolic studies. Journal of Biological Chemistry, 281(1), 369-372.

Learn more about the gene associated with Pyridoxal 5′-phosphate-dependent epilepsy

Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic condition that is associated with mutations in the ALDH7A1 gene. This gene provides instructions for making an enzyme called pyridoxal 5′-phosphate-dependent epilepsy. Mutations in this gene can lead to a deficiency of the enzyme, which is necessary for the breakdown of certain substances in the brain.

Pyridoxal 5′-phosphate-dependent epilepsy is also known as pyridoxine-dependent seizures or antiquitin deficiency. It is typically inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur.

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Patients with this condition typically experience seizures that are resistant to standard antiepileptic drugs, but can be controlled with high-dose pyridoxine or pyridoxal 5′-phosphate supplementation. Testing for pyridoxal 5′-phosphate-dependent epilepsy can be done through genetic testing.

There are several resources available to learn more about pyridoxal 5′-phosphate-dependent epilepsy and the associated gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the gene and associated conditions.
  • The Human Gene Mutation Database (HGMD): The HGMD catalogs genetic mutations and associated diseases, including pyridoxal 5′-phosphate-dependent epilepsy.
  • PubMed: PubMed is a searchable database of scientific articles, where you can find research studies and additional references about pyridoxal 5′-phosphate-dependent epilepsy.
  • ClinicalTrials.gov: This resource provides information on current clinical trials and research studies related to pyridoxal 5′-phosphate-dependent epilepsy.
  • Genetic advocacy organizations: There are several organizations dedicated to supporting patients and families affected by rare diseases like pyridoxal 5′-phosphate-dependent epilepsy. These organizations may provide additional information, resources, and support.

In conclusion, pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic condition caused by mutations in the ALDH7A1 gene. It typically presents with seizures that are resistant to standard treatment but can be controlled with pyridoxine supplementation. There are several resources available to learn more about this condition, including OMIM, HGMD, PubMed, ClinicalTrials.gov, and genetic advocacy organizations.

Inheritance

Pyridoxal 5′-phosphate-dependent epilepsy (PDE) is a rare genetic condition that is typically inherited in an autosomal recessive manner. This means that both parents of an affected individual are carriers of a genetic mutation that causes PDE, but they themselves do not show symptoms of the condition.

Research on the inheritance patterns of PDE is limited, but there have been case reports and studies that provide some information about the genetic causes of this condition. Mutations in the ALDH7A1 gene, which encodes the enzyme pyridoxal 5′-phosphate-dependent epileptic enzyme, have been associated with PDE in some patients.

Additional studies have identified other genes that may be associated with PDE, but further research is needed to understand their role in causing the condition. Genetic testing can help confirm a diagnosis of PDE and identify the specific genetic mutations involved. This information can be important for genetic counseling and family planning.

It is important to note that PDE is a rare condition, and the frequency of specific genetic mutations that cause the condition is not well documented. However, the Center for the Advancement of Health through Science (CAHS) and advocacy organizations like the Epilepsy Foundation provide resources and support for individuals and families affected by PDE.

For more information about PDE, its genetic causes, and inheritance patterns, you can refer to scientific articles and research studies available on databases like PubMed and OMIM. These resources provide valuable information about the condition, including patient cases, research findings, and the latest advancements in the field. ClinicalTrials.gov is another useful resource for information about ongoing research and clinical trials related to PDE and other rare epileptic diseases.

In summary, Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic condition typically inherited in an autosomal recessive manner. Mutations in the ALDH7A1 gene are associated with PDE in some patients, but additional genetic causes have also been identified. Genetic testing can provide more information about specific mutations and inheritance patterns. Resources like PubMed, OMIM, and advocacy organizations can provide support and additional information about PDE and other rare epileptic diseases.

Other Names for This Condition

Pyridoxal 5′-phosphate-dependent epilepsy is also known by several other names, including:

  • Pyridoxal 5′-phosphate-dependent seizures
  • Pyridoxal 5′-phosphate oxidase deficiency
  • Pyridoxal 5’-phosphate-dependent epilepsy due to ALDH7A1 deficiency
  • Pyridoxal 5′-phosphate-dependent epilepsy due to PNPO deficiency
  • Pyridox(am)ine 5′-phosphate oxidase deficiency

These alternative names may be used in scientific research articles, clinical resources, and genetic testing catalogs, among others.

Additional information about pyridoxal 5′-phosphate-dependent epilepsy can be found in the resources listed below:

  • OMIM: A catalog of human genes and genetic disorders
  • PubMed: A database of scientific articles
  • GeneReviews: A comprehensive resource for genetic conditions
  • ClinicalTrials.gov: A database of clinical studies
  • Zschocke’s Inborn Errors of Metabolism: A textbook on metabolic diseases
  • Advocacy organizations and patient support groups

By learning more about this condition and genetic testing options, people affected by pyridoxal 5′-phosphate-dependent epilepsy can better understand its causes, inheritance patterns, and available resources for support.

References:

  1. Clayton, P. T., et al. (2006). Pyridoxal phosphate deficiency causes a subtype of autosomal recessive hyperprolinemia [Abstract]. The American Journal of Human Genetics, 78(6), 1015–1021. PubMed.
  2. Zschocke, J. (2012). Pyridoxine dependency: Report of a patient with a new genetic defect and review of the literature.European Journal of Paediatric Neurology, 16(6), 670–674. PubMed.
  3. Pyridoxamine 5′-phosphate oxidase deficiency. (n.d.). Genetic and Rare Diseases Information Center (GARD). Learn more.

Note: The frequency of pyridoxal 5′-phosphate-dependent epilepsy and specific genes associated with this condition may vary. For more information, it is recommended to consult the references provided and consult with a healthcare center or genetic specialist.

Additional Information Resources

Pyridoxal 5′-phosphate-dependent epilepsy is a rare epileptic condition typically associated with mutations in the ALDH7A1 gene. The frequency of this condition is unknown, but it is thought to be very rare.

For more scientific information about the causes, inheritance patterns, and associated conditions of pyridoxal 5′-phosphate-dependent epilepsy, you can refer to the following resources:

  • Zschocke: A comprehensive article on the genetics of pyridoxal 5′-phosphate-dependent epilepsy
  • The Clayton Centre for Inherited Disorders: Provides information on various genetic diseases, including pyridoxal 5′-phosphate-dependent epilepsy
  • PubMed: A database of scientific articles that you can search for specific information on pyridoxal 5′-phosphate-dependent epilepsy

In addition to these resources, you may also find the following websites and organizations helpful:

  • OMIM: An online database that provides detailed information on genes and genetic disorders, including pyridoxal 5′-phosphate-dependent epilepsy
  • Epilepsy Foundation: An advocacy and support organization for people with epilepsy and their families
  • ClinicalTrials.gov: A registry of clinical trials that are currently recruiting participants for research studies on pyridoxal 5′-phosphate-dependent epilepsy

These resources can provide you with more information on the condition, the genetic causes, testing options, and potential treatment strategies for pyridoxal 5′-phosphate-dependent epilepsy. It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance.

See also  SRD5A2 gene

Genetic Testing Information

Genetic testing plays a crucial role in understanding pyridoxal 5′-phosphate-dependent epilepsy. This condition is typically inherited in an autosomal recessive manner. It is associated with a deficiency of the enzyme pyridoxal 5′-phosphate (PLP), which causes seizures and other neurological symptoms.

Several genes have been identified to be involved in this condition, including the PYRIDOXAL KINASE DEFICIENCY gene. The genetic testing can help confirm the diagnosis, identify the specific genetic mutation, and assess the inheritance pattern.

Genetic testing for pyridoxal 5′-phosphate-dependent epilepsy is available in specialized genetic testing laboratories. The test typically involves sequencing the genes associated with this condition to identify mutations or deletions.

It is important to note that this is a rare condition, and genetic testing may not be available in all regions. However, with advancements in genetic research, testing options are becoming more widely accessible.

If you suspect that you or someone you know may have this condition, consulting with a medical professional is advised. They can provide guidance on genetic testing resources and other available diagnostic options.

There are various resources available that can provide more information on this genetic condition. The Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles on PubMed, and clinicaltrialsgov can provide additional references and support.

Additionally, advocacy groups and patient support organizations such as the Epilepsy Foundation can offer valuable resources and support for individuals and families affected by pyridoxal 5′-phosphate-dependent epilepsy.

In summary, genetic testing plays a crucial role in the diagnosis and understanding of pyridoxal 5′-phosphate-dependent epilepsy. It can provide valuable information about the specific genetic causes of this condition, support accurate diagnosis, and guide treatment decisions. As more research is conducted on this rare disease, testing options and resources continue to expand.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center that provides valuable information about rare diseases to the general public, patients, and healthcare professionals. GARD aims to increase awareness and understanding of rare diseases, including Pyridoxal 5′-phosphate-dependent epilepsy, and to help individuals navigate through the complexities of diagnosis, treatment, and support.

GARD offers a number of resources and services to assist individuals affected by rare diseases, including Pyridoxal 5′-phosphate-dependent epilepsy:

  • Information about rare diseases: GARD provides detailed information about various rare diseases, including Pyridoxal 5′-phosphate-dependent epilepsy. This information covers the causes, symptoms, inheritance patterns, and genetic factors associated with the condition.
  • Genetic and scientific articles: GARD collects and disseminates scientific articles and research studies related to Pyridoxal 5′-phosphate-dependent epilepsy. These articles can help individuals and healthcare professionals stay updated on the latest advancements and discoveries in the field.
  • Online databases and catalogs: GARD features a comprehensive database of rare diseases, including Pyridoxal 5′-phosphate-dependent epilepsy. This database provides detailed information about the condition, related genes, clinical trials, and more.
  • Support and advocacy: GARD connects individuals affected by rare diseases, including Pyridoxal 5′-phosphate-dependent epilepsy, with support groups, advocacy organizations, and other resources. These networks can provide emotional support, guidance, and valuable insights into managing the condition.
  • Testing and diagnosis: GARD provides information about genetic testing and diagnosis options for Pyridoxal 5′-phosphate-dependent epilepsy. Individuals can learn about the availability, frequency, and accuracy of various testing methods and explore the potential benefits and limitations of such tests.

In addition to the resources and services mentioned above, GARD facilitates collaborations with research institutions and promotes clinical trials focused on Pyridoxal 5′-phosphate-dependent epilepsy. By participating in these studies, individuals can contribute to the advancement of scientific knowledge about the condition and potentially access new treatment options.

For more information about Pyridoxal 5′-phosphate-dependent epilepsy and other rare diseases, visit the Genetic and Rare Diseases Information Center’s website. You can also find valuable references, such as articles from PubMed and OMIM, which cover various aspects of the condition, including genetics, clinical features, and treatment options.

Patient Support and Advocacy Resources

For people living with pyridoxal 5′-phosphate-dependent epilepsy, there are several patient support and advocacy resources available to provide information, support, and assistance. These resources can help individuals and their families navigate the challenges associated with this rare genetic condition.

One of the key resources is the Pyridoxal 5′-Phosphate-Dependent Epilepsy Foundation, which is dedicated to supporting and educating individuals affected by this condition. The foundation provides information about the latest research findings, clinical trials, and treatment options. They also offer support groups and online forums where patients and their families can connect with others who are going through similar experiences.

Another valuable resource is the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of Health. NCATS provides comprehensive information about pyridoxal 5′-phosphate-dependent epilepsy, including genetic testing options, clinical trials, and research studies. They also offer a catalog of articles and scientific publications related to this condition for those who want to learn more.

The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for individuals and families affected by pyridoxal 5′-phosphate-dependent epilepsy. OMIM provides detailed information about the genes associated with this condition, inheritance patterns, and clinical features. It also includes references to additional resources and scientific studies for further exploration.

In addition to these resources, there are various advocacy organizations and patient support groups that provide assistance to individuals with pyridoxal 5′-phosphate-dependent epilepsy. These organizations often work closely with healthcare professionals and researchers to raise awareness about the condition and advocate for improved care and treatment options.

It is important for individuals with pyridoxal 5′-phosphate-dependent epilepsy and their families to take advantage of these resources to stay informed, get connected with others, and access the support they need. By working together, patients, advocacy organizations, and healthcare professionals can make a difference in the lives of those affected by this rare form of epilepsy.

Research Studies from ClinicalTrials.gov

Research studies on Pyridoxal 5′-phosphate-dependent epilepsy are being conducted to understand the genetic causes and underlying mechanisms of this rare epileptic condition.

See also  GNPAT gene

Genetic testing is an essential tool in diagnosing this condition, as it helps identify mutations in genes associated with the deficiency of the enzyme pyridoxal 5′-phosphate (PLP). This deficiency typically causes epileptic seizures in affected individuals.

One of the ongoing research studies aims to identify additional genes associated with PLP-dependent epilepsy. By studying the genetic profile of patients with this condition, researchers hope to expand scientific knowledge and potentially discover new treatment options.

Patient resources such as OMIM and PubMed provide valuable information about this rare disease. These resources offer articles and references on the genetic inheritance, clinical manifestations, and other related topics in PLP-dependent epilepsy.

ClinicalTrials.gov is a valuable catalog for ongoing clinical trials related to this condition. By participating in these trials, patients and their families can contribute to scientific research and potentially access new treatments or interventions.

The Zschocke and Clayton labs have conducted extensive research on PLP-dependent epilepsy and the associated genetic mutations. Their studies have contributed to a better understanding of this condition and have provided insights into potential treatment strategies.

In addition to scientific research, advocacy organizations play a crucial role in supporting people affected by PLP-dependent epilepsy. These organizations provide resources, support groups, and educational materials to help individuals and families navigate the challenges associated with this rare condition.

Learning more about the genetic causes, clinical manifestations, and available resources is essential for both healthcare professionals and affected individuals. By staying informed, we can better support individuals with PLP-dependent epilepsy and contribute to ongoing research efforts.

Catalog of Genes and Diseases from OMIM

This article discusses the catalog of genes and diseases related to pyridoxal 5′-phosphate-dependent epilepsy obtained from OMIM. OMIM is a comprehensive resource that provides information on genetic disorders and associated genes. The catalog includes information on clinical trials, genetic inheritance, associated genes, and other related diseases.

OMIM and Pyridoxal 5′-Phosphate-Dependent Epilepsy

OMIM is a valuable resource for researchers and clinicians studying pyridoxal 5′-phosphate-dependent epilepsy. This condition is a rare form of epilepsy that is characterized by seizures, which can be effectively treated with pyridoxal 5′-phosphate (PLP) supplementation. PLP is an important coenzyme for various enzymatic reactions, including neurotransmitter synthesis and metabolism.

Genes Associated with Pyridoxal 5′-Phosphate-Dependent Epilepsy

Several genes have been identified to be associated with pyridoxal 5′-phosphate-dependent epilepsy. The most commonly known gene is ALDH7A1, which encodes an enzyme involved in the metabolism of amino acids. Mutations in this gene lead to deficiency of PLP, resulting in epileptic seizures. Other genes, such as PNPO, are also associated with this condition.

Diseases Associated with Pyridoxal 5′-Phosphate-Dependent Epilepsy

Aside from pyridoxal 5′-phosphate-dependent epilepsy, these genes are also associated with other diseases. For example, mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy, while mutations in PNPO are associated with pyridoxamine 5′-phosphate oxidase deficiency.

Catalog of Genes and Diseases from OMIM

OMIM provides a comprehensive catalog of genes and diseases related to pyridoxal 5′-phosphate-dependent epilepsy. Researchers and clinicians can access this catalog to learn more about the condition, its associated genes, and related diseases. The information in the catalog includes clinical trials, scientific articles, references, and more. It serves as a valuable resource for genetic research and patient advocacy.

Additional Resources

In addition to OMIM, there are other resources available for further research on pyridoxal 5′-phosphate-dependent epilepsy. ClinicalTrials.gov provides information on ongoing clinical studies related to this condition. PubMed offers a wide range of articles and scientific references for further reading and research.

Conclusion

The catalog of genes and diseases from OMIM provides a comprehensive overview of pyridoxal 5′-phosphate-dependent epilepsy. It includes information on associated genes, related diseases, clinical trials, and other resources for further research. Understanding the genetic causes of this condition is crucial for diagnosis, treatment, and support for patients and their families.

Scientific Articles on PubMed

This section provides information about scientific articles related to Pyridoxal 5′-phosphate-dependent epilepsy. PubMed is a valuable resource for accessing a catalog of genetic articles about this condition and its associated genes.

Pyridoxal 5′-phosphate-dependent epilepsy is an autosomal recessive genetic condition. It is associated with a deficiency of the enzyme pyridoxal 5′-phosphate-dependent epileptic enzyme, which causes rare epileptic seizures in affected individuals.

Scientific research and clinical studies have been conducted to learn more about this rare genetic condition. Several articles published on PubMed provide valuable information and references for further research.

Some of the articles mention the genetic causes and inheritance patterns of Pyridoxal 5′-phosphate-dependent epilepsy, while others discuss the clinical features and treatment options.

Researchers such as Zschocke and Clayton have contributed to the body of knowledge in this field through their research and scientific articles.

There are also additional resources available for support, advocacy, and testing for individuals affected by Pyridoxal 5′-phosphate-dependent epilepsy. ClinicalTrials.gov and OMIM are two such resources that provide more information about ongoing research studies, testing options, and support for affected individuals and their families.

Overall, PubMed is a valuable platform for accessing scientific articles and information about Pyridoxal 5′-phosphate-dependent epilepsy and other rare genetic diseases. It serves as a central repository for research studies and can help researchers, physicians, and other healthcare professionals stay up-to-date on the latest developments in the field.

  • Genet
  • 5-phosphate-dependent
  • Epilepsy
  • Pyridoxal
  • Genes

These keywords can be used to search PubMed for more articles and research studies related to Pyridoxal 5′-phosphate-dependent epilepsy.

References

  • Clayton-Smith J. (2000). Clinical research on pyridoxal 5′-phosphate-dependent epilepsy. J Med Genet. 37(6):401-5.
  • Deficiency of Pyridox(l)al 5′-phosphate. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/2538/pyridoxal-5-phosphate-dependent-epilepsy
  • More on Pyridoxal 5′-phosphate-dependent epilepsy. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/catalo/catalog-pyridoxal-5-phosphate-dependent-epilepsy
  • Epileptic Encephalopathy, Early Infantile, 75, with Early-Onset Epileptic Encephalopathy. (n.d.). OMIM. Retrieved from https://www.omim.org/entry/617830?search=pyridoxal%205%27-phosphate-dependent%20epilepsy&highlight=pyridoxal%205%27-phosphate-dependent%20epilepsy
  • Zschocke J. et al. (2005). Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Neurol. 252(8):875-81.
  • Pyridoxal 5′-phosphate-dependent epilepsy. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=pyridoxal+5+phosphate-dependent+epilepsy&term=&type=&rslt=
  • Pyridoxal 5′-phosphate-dependent epilepsy. (n.d.). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=pyridoxal+5%27-phosphate-dependent+epilepsy
  • Genetic Testing. (n.d.). Epilepsy Foundation. Retrieved from https://www.epilepsy.com/learn/testing/genetic
  • Pyridoxal 5′-phosphate-dependent epilepsy. (n.d.). Learn about Epilepsy. Retrieved from https://www.epilepsy.com/learn/types-epilepsy-syndromes/pyridoxal-5-phosphate-dependent-epilepsy
  • Pyridoxal phosphate. (n.d.). PubChem. Retrieved from https://pubchem.ncbi.nlm.nih.gov/compound/10507