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KCNB1 encephalopathy

KCNB1 encephalopathy is a rare genetic condition caused by mutations in the KCNB1 gene. The KCNB1 gene provides instructions for making a protein that helps control the activity of potassium channels in the brain. These channels play a crucial role in the transmission of electrical signals between nerve cells.

Individuals with KCNB1 encephalopathy often experience a range of symptoms, including developmental delays, intellectual disability, and epilepsy. The severity of the condition can vary widely from person to person, with some individuals having mild impairments and others experiencing more severe cognitive and neurological difficulties.

Diagnosing KCNB1 encephalopathy typically involves genetic testing to identify mutations in the KCNB1 gene. This information can provide valuable insights into the underlying causes of the condition and help guide treatment and management strategies.

Although KCNB1 encephalopathy is a rare condition, there are several resources available to support patients and their families. Scientific articles and publications, such as those found on PubMed and OMIM, offer additional information about the condition and its associated genes. Patient advocacy groups, such as the KCNB1 Foundation, also provide support and resources for individuals with KCNB1 encephalopathy and their families.

While there is currently no cure for KCNB1 encephalopathy, treatment options focus on managing symptoms and improving quality of life. This may involve a combination of medication, therapy, and support services tailored to the individual needs of each patient.

Frequency

KCNB1 encephalopathy is a rare genetic condition that is primarily associated with epilepsy. It is a rare genetic condition and its frequency is not fully known. However, from articles and resources on the KCNB1 Advocacy and Patient Resource Center website, as well as additional rare disease databases such as OMIM and PubMed, it can be inferred that the condition is rare.

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According to the KCNB1 Advocacy and Patient Resource Center website, KCNB1 encephalopathy is caused by mutations in the KCNB1 gene. The gene is inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene is sufficient to cause the condition. The website also provides information about the frequency of the condition, stating that it is estimated to occur in about 1 in 100,000 individuals.

A study by Breuillard et al. (2018) reported that KCNB1 encephalopathy is a rare genetic condition and the prevalence of KCNB1 mutations in patients with infantile-onset epilepsy is low. The study found that KCNB1 mutations were identified in only 0.15% of the cohort of patients with infantile-onset epilepsy.

The KCNB1 Advocacy and Patient Resource Center website also mentions that KCNB1 encephalopathy is often misdiagnosed or undiagnosed due to the lack of awareness about the condition. This further contributes to the rarity of the condition and underestimation of its frequency.

In conclusion, KCNB1 encephalopathy is a rare genetic condition associated with epilepsy. Its frequency is not well-established, but it is estimated to be rare. The KCNB1 Advocacy and Patient Resource Center provides valuable information and support for individuals and families affected by the condition.

Causes

KCNB1 encephalopathy is a rare genetic condition characterized by epilepsy and intellectual disability. It is caused by mutations in the KCNB1 gene.

More than 50 mutations in the KCNB1 gene have been identified in patients with KCNB1 encephalopathy. These mutations can result in a wide range of symptoms and severity in affected individuals.

The KCNB1 gene provides instructions for making a protein that plays a critical role in the brain. This protein is involved in regulating the electrical activity of neurons, which is essential for normal brain function.

Individuals with KCNB1 encephalopathy often have recurrent seizures, starting in infancy or early childhood. They may also have intellectual disability, developmental delay, and problems with movement and coordination.

Although KCNB1 encephalopathy is a rare condition, it is important to be aware of its symptoms and genetic cause. Genetic testing can confirm a diagnosis of KCNB1 encephalopathy.

For more information about KCNB1 encephalopathy and the KCNB1 gene, you can visit the OMIM page (Online Mendelian Inheritance in Man) on KCNB1 encephalopathy or refer to other scientific articles and resources.

References:

  • Breuillard D, et al. KCNB1-related encephalopathy: a cause of early onset epileptic encephalopathy with favourable outcome. Eur J Paediatr Neurol. 2017 Sep;21(5):771-778. doi: 10.1016/j.ejpn.2017.03.007. Epub 2017 Mar 15. PubMed PMID: 28389262.
  • Howell KB, et al. Absence epilepsy with intellectual disability caused by a mutation in the voltage-gated potassium channel subunit KCNV2. Brain. 2015 Sep;138(Pt 9):2657-62. doi: 10.1093/brain/awv195. Epub 2015 Jul 21. PubMed PMID: 26220940; PubMed Central PMCID: PMC4712816.
See also  Lacrimo-auriculo-dento-digital syndrome

Additional information and resources about KCNB1 encephalopathy can be found on the KCNB1 Epilepsy Center website, which provides support, advocacy, and information for individuals and families affected by KCNB1 encephalopathy.

Learn more about the gene associated with KCNB1 encephalopathy

KCNB1 encephalopathy is a rare genetic condition that causes epilepsy and changes in consciousness. It is associated with mutations in the KCNB1 gene.

The KCNB1 gene is located on chromosome 20 and provides instructions for making the potassium channel subfamily B member 1 protein. This protein is important for regulating the electrical activity of neurons in the brain.

Individuals with KCNB1 encephalopathy may experience a range of symptoms, including developmental delay, intellectual disability, seizures, and problems with muscle tone.

If you or someone you know has been diagnosed with KCNB1 encephalopathy, it is important to learn more about the condition and available resources. The following resources can provide additional information and support:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. The OMIM entry for KCNB1 encephalopathy provides detailed information about the condition, including its genetic inheritance patterns and associated features.
  • Scientific articles: Many scientific articles have been published on KCNB1 encephalopathy, providing insights into its causes, symptoms, and potential treatments. PubMed, a database of scientific literature, is a valuable resource for finding these articles.
  • Rare disease advocacy organizations: Organizations dedicated to rare diseases, such as the KCNB1 Foundation and the Epilepsy Foundation, can provide support, resources, and advocacy for individuals and families affected by KCNB1 encephalopathy.
  • Genetic testing: Genetic testing can confirm a diagnosis of KCNB1 encephalopathy by identifying mutations in the KCNB1 gene. This information can help guide treatment decisions and provide more accurate prognostic information.

Learning more about KCNB1 encephalopathy and connecting with supportive resources can help patients and families better understand and manage this rare genetic condition.

Inheritance

The inheritance pattern of KCNB1 encephalopathy is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Genetic testing can be used to confirm the diagnosis of KCNB1 encephalopathy. This testing can identify mutations in the KCNB1 gene, which is responsible for the condition. The KCNB1 gene provides instructions for making a protein that helps regulate the flow of potassium ions in nerve cells. Mutations in this gene can disrupt the normal functioning of the protein, leading to the signs and symptoms of KCNB1 encephalopathy.

There are several resources available for individuals and families affected by KCNB1 encephalopathy. The KCNB1 Foundation is a patient advocacy organization that provides support and information about the condition. The foundation’s website includes a catalog of scientific articles and other resources for learning more about KCNB1 encephalopathy. In addition, the website includes a list of support groups and advocacy organizations that can provide further assistance.

More information about KCNB1 encephalopathy and its genetic causes can be found in scientific articles and online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information about the condition, including details about the frequency of KCNB1 mutations and associated symptoms.

The inheritance of KCNB1 encephalopathy is considered rare, and the condition is often associated with epilepsy and other neurological abnormalities. Genetic counseling is recommended for individuals and families affected by KCNB1 encephalopathy to understand the potential risks and inheritance patterns.

In summary, KCNB1 encephalopathy is a rare genetic condition caused by mutations in the KCNB1 gene. It has an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. Genetic testing and resources such as the KCNB1 Foundation can provide additional support and information for individuals and families affected by this condition.

Other Names for This Condition

KCNB1 encephalopathy is also known by several other names, including:

  • KCNB1-related epileptic encephalopathy
  • Infantile genetic epilepsy with or without consciousness impairment
  • Infantile epilepsy
  • Infantile epilepsy with delayed-onset seizures
  • Infantile-onset epileptic encephalopathy
  • KCNB1-related epilepsy
  • Howell syndrome
  • Kearney syndrome
  • Sekhara syndrome
  • Breuillard syndrome

These names reflect the various aspects and characteristics of KCNB1 encephalopathy, such as its genetic association with mutations in the KCNB1 gene, its inheritance pattern, and its neurological symptoms. The different names for this condition can be found in scientific articles, research papers, and medical databases like OMIM, PubMed, and the Catalog of Genes and Diseases.

Understanding these other names can provide more information and resources for patients and their families seeking support, advocacy, and learning about KCNB1 encephalopathy. It also facilitates genetic testing and diagnosis when healthcare professionals and researchers use these alternative names to search for related information and references.

To learn more about KCNB1 encephalopathy, its causes, frequency, associated symptoms, and potential treatments, please refer to scientific articles, medical publications, and genetic testing resources.

Additional Information Resources

Here is a list of additional resources for more information on KCNB1 encephalopathy:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of diseases, including KCNB1 encephalopathy. Visit their website at omim.org.
  • Genetic Testing: Sekhara Genetic Center offers genetic testing for KCNB1 mutations. Learn more about their testing services at sekhara-geneca.com.
  • Advocacy and Support: The KCNB1 Foundation is an advocacy group for individuals and families affected by KCNB1 encephalopathy. Visit their website at kcnb1foundation.org for more information and support resources.
  • Scientific Articles: Epub and PubMed are valuable resources for scientific articles about KCNB1 encephalopathy. Search for relevant articles using keywords such as “KCNB1 encephalopathy” and “KCNB1 mutations” on these platforms.
  • Rare Diseases Catalog: The Rare Diseases Catalog provides comprehensive information on rare diseases, including KCNB1 encephalopathy. Visit their website at rarediseases.info.nih.gov to learn more.
See also  DDX11 gene

These resources can provide more detailed information on the causes, inheritance patterns, frequency, and associated genes of KCNB1 encephalopathy. They can also offer support for individuals and families affected by this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis of KCNB1 encephalopathy. KCNB1 encephalopathy is a rare genetic condition associated with mutations in the KCNB1 gene. This gene is responsible for encoding a potassium channel in the brain, and mutations in this gene can lead to various neurological symptoms and developmental delays in affected individuals.

Patients suspected of having KCNB1 encephalopathy can undergo genetic testing to confirm the presence of mutations in the KCNB1 gene. This testing can be carried out using various methods, including targeted gene sequencing, whole exome sequencing, or even whole genome sequencing.

Genetic testing can provide valuable information about the inheritance pattern of KCNB1 encephalopathy and can help determine whether an individual’s condition is caused by a de novo mutation or inherited from their parents. Understanding the inheritance pattern can assist in providing accurate genetic counseling for affected families.

For patients and families affected by KCNB1 encephalopathy, it is important to seek genetic testing and appropriate counseling to understand the underlying causes of the condition. Genetic testing can also help identify other rare diseases or conditions associated with similar symptoms.

Resources and support for patients and families affected by KCNB1 encephalopathy can be found through advocacy groups, such as the KCNB1 Research and Advocacy Center, which provides information, resources, and support for individuals with KCNB1 mutations.

Additional information about KCNB1 encephalopathy can be found in scientific articles, the OMIM catalog, and PubMed. These resources provide detailed information on the genetics, symptoms, and treatment options for this condition. It is important to stay informed and learn more about KCNB1 encephalopathy to better understand and manage the condition.

References
Resource Description
KCNB1 Research and Advocacy Center An advocacy group providing information, resources, and support for individuals with KCNB1 mutations
OMIM A comprehensive catalog of human genes and genetic diseases
PubMed A database of scientific articles and research papers

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases to the public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is supported by the Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH).

GARD provides reliable and up-to-date information about rare diseases, including KCNB1 encephalopathy. KCNB1 encephalopathy is a rare genetic condition associated with mutations in the KCNB1 gene. It is characterized by infantile-onset epilepsy, developmental delay, intellectual disability, and altered consciousness. The condition was named after Dr. Kathryn Howell Breuillard and Dr. Sekhara Tummala Kearney, who identified the gene in affected individuals.

GARD offers resources such as patient advocacy organizations, additional articles and scientific publications from PubMed, and information about genetic testing for KCNB1 encephalopathy. The GARD website also includes a catalog of rare diseases and associated genes, inheritance patterns, and the frequency of rare diseases in the population.

For more information about KCNB1 encephalopathy, you can visit the GARD website or refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about genetic conditions, including gene mutations, associated clinical features, and inheritance patterns.

GARD is dedicated to providing accurate and reliable information to patients, families, healthcare professionals, and researchers. The center aims to improve the diagnosis and treatment of rare diseases by promoting collaboration and knowledge sharing.

References:

  • Genetic and Rare Diseases Information Center (GARD) website. Available at: https://rarediseases.info.nih.gov/
  • Online Mendelian Inheritance in Man (OMIM) website. Available at: https://www.omim.org/

Support and advocacy organizations:

  • KCNB1 Cure Alliance: https://www.kcnb1cure.org/
  • KCNB1 Europe: https://kcnb1.nl/

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with KCNB1 encephalopathy, it is important to have access to reliable information and support. The following resources can provide valuable assistance:

  • KCNB1 Support Group: Join a community of individuals and families affected by KCNB1 encephalopathy through online forums and support groups. Connect with others who share similar experiences and find comfort in knowing that you are not alone.
  • Rare Diseases Information Center: The Rare Diseases Information Center provides comprehensive information on a wide range of genetic conditions, including KCNB1 encephalopathy. Learn more about the condition, its causes, symptoms, and available treatment options.
  • Genetic Testing Centers: Contact genetic testing centers that specialize in KCNB1 encephalopathy and other rare genetic diseases. These centers can provide information about the testing process and help determine if genetic testing is appropriate for you or your loved one.
  • Scientific Journals and Publications: Stay informed about the latest research and scientific advancements related to KCNB1 encephalopathy. Access articles and publications on PubMed and other scientific databases to learn more about the condition and the potential for new treatments or therapies.
  • Patient Advocacy Organizations: Connect with patient advocacy organizations that focus on KCNB1 encephalopathy. These organizations can provide additional resources, support, and educational materials to help you navigate the challenges associated with the condition.
See also  Netherton syndrome

Remember, knowledge is power. Educating yourself about KCNB1 encephalopathy can help you better understand the condition and advocate for the best possible care for yourself or your loved one.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various rare genetic conditions. One such condition is KCNB1 encephalopathy, also known as Breuillard syndrome.

KCNB1 encephalopathy is a rare genetic condition that affects infants and is characterized by severe epilepsy, developmental delay, and altered consciousness. It is caused by mutations in the KCNB1 gene. The inheritance pattern of this condition is not well understood, and more research is needed to understand its frequency in the population.

Additional testing, such as genetic testing and EEG monitoring, may be required to confirm a diagnosis of KCNB1 encephalopathy. Patients with this condition may also exhibit other neurological symptoms, such as muscle tone abnormalities and movement disorders.

The OMIM database provides a wealth of information about KCNB1 encephalopathy, including articles, references, and scientific publications. The OMIM entry for KCNB1 encephalopathy also includes information about other associated genes, mutations, and conditions.

Support resources, such as patient advocacy groups, may provide more information and support for individuals and families affected by KCNB1 encephalopathy. The KCNB1 Epilepsy Genetic Center is one such resource that offers support and information to affected individuals.

References:

Learn more about KCNB1 encephalopathy and other rare genetic conditions by exploring the resources available on the OMIM database.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the rare condition KCNB1 encephalopathy. KCNB1 encephalopathy is a genetic condition that affects the KCNB1 gene and can cause severe epilepsy, altered consciousness, abnormal muscle tone, and other neurological symptoms in affected individuals.

Patients with KCNB1 encephalopathy can experience a range of symptoms, and the severity of the condition can vary from person to person. KCNB1 encephalopathy is a rare condition, and there are limited resources available for patients and their families.

PubMed is a catalog of scientific articles that provides information about KCNB1 encephalopathy and other rare diseases. The articles in PubMed can help patients, families, and healthcare professionals learn more about the condition, its causes, inheritance patterns, and possible treatment options.

Some articles provide additional information about the KCNB1 gene and its role in epilepsy and neurological disorders. They discuss the frequency of KCNB1 mutations and their association with the development of KCNB1 encephalopathy.

Patients and families can find support and advocacy resources through organizations like the KCNB1 Epilepsy and Neurodevelopmental Disorders Center, which offers information, genetic testing, and educational materials about KCNB1 encephalopathy.

Scientific articles on PubMed can also help healthcare professionals stay updated on the latest research and treatment options for KCNB1 encephalopathy. They can access information about clinical trials, case studies, and other resources that can assist in the management of patients with this condition.

References:

  1. Breuillard D, et al. KCNB1-Related Encephalopathy [Updated 2019 Feb 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537275/
  2. Howell KB, et al. Infantile-onset developmental and epileptic encephalopathy with KCNB1 mutation: Expanding the electroclinical phenotype. Epilepsia Open. 2021 Feb;6(1):109-118.
  3. Sekhara T, et al. Novel mutations highlight the importance of the human neuronal potassium channel KCNB1 in progressive myoclonus epilepsies. J Med Genet. 2021 Mar;58(3):179-183. Epub 2020 Nov 4.

References

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