Periventricular heterotopia is a rare genetic developmental disorder that affects the migration of neurons during brain development. It is characterized by the presence of nodular bands or clusters of gray matter near the ventricles of the brain.

This condition can be caused by mutations in various genes, including FLNA, ARFGEF2, and more. It can be inherited in an X-linked dominant or autosomal dominant manner, although many cases occur sporadically without a family history of the condition.

Periventricular heterotopia can cause a range of neurological problems, including seizures, intellectual disability, and difficulties with language and motor skills. The severity and symptoms of the condition can vary widely among affected individuals.

Research and genetic testing are important for diagnosing periventricular heterotopia and identifying the specific genetic cause. Additional resources and support can be found through patient advocacy organizations, scientific articles, and clinical trials.

For more information about periventricular heterotopia, its causes, and available treatments, you can visit resources such as OMIM, PubMed, and ClinicalTrials.gov.

Frequency

Periventricular heterotopia is a rare condition that affects the development of neurons in the brain. It is associated with a variety of other neurological problems, including epilepsy and intellectual disability.

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The exact frequency of periventricular heterotopia is unknown, but it is estimated to occur in approximately 1 in every 4,000 to 5,000 individuals. It is more common in females than in males, and has been found to have a higher prevalence in certain populations.

Periventricular heterotopia can be caused by mutations in a number of different genes. The most common form of the condition, known as X-linked periventricular heterotopia, is caused by mutations in the FLNA gene located on the X chromosome.

Other genetic causes of periventricular heterotopia have also been identified, including mutations in the ARFGEF2, NEDD4L, and DCHS1 genes. In addition, there may be other as-yet undiscovered genes involved.

Periventricular heterotopia is often diagnosed using MRI imaging of the brain, which can reveal the presence of heterotopic nodules around the lateral ventricles. However, genetic testing is necessary to confirm a diagnosis and identify the underlying genetic cause of the condition.

The Periventricular Heterotopia Gene Catalog is a resource that provides information on the genes associated with periventricular heterotopia, as well as links to additional scientific articles and clinical trials relating to the condition.

Currently, there is no cure for periventricular heterotopia. Treatment options focus on managing the symptoms and associated problems, such as epilepsy and intellectual disability. Supportive therapies such as physical and occupational therapy may also be beneficial.

It is important for individuals with periventricular heterotopia and their families to seek support and information from advocacy organizations, such as the Periventricular Heterotopia Foundation, to learn more about the condition and connect with other individuals affected by it.

For more information on periventricular heterotopia, genetic testing, and available clinical trials, visit resources such as OMIM, PubMed, and ClinicalTrials.gov.

Causes

The condition known as periventricular heterotopia has several causes, some of which are still not well understood. Periventricular heterotopia, also called nodular heterotopia, is a rare neurological disorder characterized by the presence of small nodules of neurons that failed to migrate properly during brain development. These nodules are located in the subcortical white matter near the ventricles of the brain.

The main cause of periventricular heterotopia is genetic mutations or alterations in specific genes that are involved in brain development. These genetic mutations can either be inherited from parents or occur spontaneously during early fetal development. Several genes have been linked to periventricular heterotopia, including FLNA, ARFGEF2, and filamin A gene (FLNA) mutations are the most common cause of the disorder, accounting for the majority of cases. Mutations in these genes can disrupt normal neuronal migration, leading to the formation of nodules in the white matter.

Inheritance patterns of periventricular heterotopia can vary depending on the specific gene involved. FLNA mutations are inherited in an X-linked dominant manner, which means that only one copy of the mutated gene is needed to cause the condition. ARFGEF2 mutations can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific mutation.

Additional causes of periventricular heterotopia can include chromosomal abnormalities, such as deletions or duplications in certain regions of the genome, as well as environmental factors and prenatal infections. These causes are relatively rare and may contribute to a small percentage of cases.

Research in genetics and developmental neurobiology has provided valuable insight into the causes of periventricular heterotopia. Understanding the genetic and molecular mechanisms underlying this condition is crucial for accurate diagnosis, counseling, and the development of potential treatment options.

For more information about the causes of periventricular heterotopia, you can refer to the following resources:

  • PubMed: A comprehensive catalog of scientific articles on periventricular heterotopia and related topics.
  • OMIM: An Online Mendelian Inheritance in Man (OMIM) database with information on genes, genetic disorders, and associated clinical features.
  • ClinicalTrials.gov: An online registry of clinical trials for periventricular heterotopia and other diseases. This resource can provide information on ongoing studies and potential treatment options.
  • Heterotopia.org: A website dedicated to providing support, advocacy, and information for individuals and families affected by periventricular heterotopia.

By obtaining a deeper understanding of the underlying causes of periventricular heterotopia, researchers and healthcare professionals can work towards improving diagnosis, treatment, and support for individuals with this condition.

Learn more about the genes and chromosome associated with Periventricular heterotopia

Periventricular heterotopia is a rare developmental condition where neurons do not migrate properly during brain development and end up in the wrong location, typically around the brain’s ventricles. This condition can cause a variety of symptoms, including seizures, intellectual disability, and developmental delays.

See also  Klippel-Feil syndrome

The cause of periventricular heterotopia can vary depending on the patient. In some cases, it is inherited in an X-linked dominant manner, meaning that the condition is caused by mutations in genes located on the X chromosome. In other cases, the cause is unknown.

To learn more about the genes and chromosome associated with periventricular heterotopia, there are several resources available:

  • ClinicalTrials.gov: This website provides information on ongoing clinical trials related to periventricular heterotopia. You can search for trials that are investigating the genes and chromosome associated with the condition.
  • PubMed: PubMed is a database of scientific articles. You can search for research studies that have investigated the genes and chromosome associated with periventricular heterotopia.
  • OMIM: OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and genetic disorders. You can search for specific genes or look up information on periventricular heterotopia to find genes associated with the condition.
  • Advocacy and support organizations: There are advocacy and support organizations for periventricular heterotopia that can provide information and resources related to the genes and chromosome associated with the condition. They may have free articles, genetic testing information, and more.
  • Research studies: Many research studies have investigated the genes and chromosome associated with periventricular heterotopia. You can search for specific studies or contact research centers to find out more information.

While the exact genes and chromosome associated with periventricular heterotopia may not be fully understood, research in this area continues to uncover new information. By learning more about the genes and chromosome associated with this condition, we can better understand its causes and develop targeted treatments.

Inheritance

The condition of periventricular heterotopia can be inherited in different ways. In some cases, it is caused by mutations in specific genes. This genetic form of the condition is known as “isolated familial periventricular heterotopia” or PFH. Mutations in the FILAMIN A (FLNA) gene are the most common cause of PFH. FLNA mutations account for around 70% of cases.

Other genes that have been associated with PFH include ADGRG1 (GPR56), where mutations are responsible for a rare, autosomal recessive form of the condition, and ARX, which is associated with a form of PFH that affects males and is inherited in an X-linked dominant manner.

In addition to these known genetic causes, there may be other genes that have not yet been discovered. Research is ongoing to learn more about the genetic basis of this condition. Genetic testing via clinical trials or testing centers can provide additional information about the specific genes involved in an individual patient.

It is important to note that not all cases of periventricular heterotopia have a genetic cause. The condition can also arise as a result of other causes, such as brain injuries or infections during development. These non-genetic causes are more rare.

For more information about the genetic causes and inheritance of periventricular heterotopia, the following resources may be useful:

In addition to genetic causes, there are also advocacy and support resources available for individuals and families affected by periventricular heterotopia. These resources can provide further information and support for individuals living with the condition. Some of these resources include the Periventricular Heterotopia (PH) Family Resource Center and the National Organization for Rare Disorders (NORD).

Other Names for This Condition

In scientific literature, Periventricular Heterotopia is also known by several other names:

  • Periventricular Nodular Heterotopia
  • Subcortical Band Heterotopia
  • X-Linked Lissencephaly with Abnormal Genitalia
  • Males-only Lissencephaly
  • Bilateral Periventricular Nodular Heterotopia
  • Periventricular Heterotopic Gray Matter Heterotopia

These names reflect the different aspects and characteristics of the condition as observed from various studies and research articles. The naming conventions may vary depending on the focus of the research and the specific findings.

Additional Resources:

  • Online Mendelian Inheritance in Man (OMIM) Catalog – Provides detailed information on the genes associated with Periventricular Heterotopia and related conditions.
  • ClinicalTrials.gov – Offers information on ongoing clinical trials and research studies related to Periventricular Heterotopia.
  • PubMed – A database of scientific literature where you can find articles and studies on Periventricular Heterotopia and its causes, genetics, and developmental problems.
  • Neuroscience Center – The Neuroscience Center provides free resources and support for patients, families, and advocacy groups dealing with Periventricular Heterotopia and other neurological diseases.

For more information about Periventricular Heterotopia and its associated genes, causes, and inheritance patterns, please refer to the sources mentioned above. It is important to consult with medical professionals and genetic counselors for accurate diagnosis and testing.

Additional Information Resources

  • Genetic Resources:
    • OMIM: A comprehensive catalog of human genes and genetic disorders. Search for “periventricular heterotopia” to learn more about the associated genes and inheritance patterns.
    • Gene Reviews: Provides detailed information about specific genetic diseases, including periventricular heterotopia. Check the gene reviews for the latest research and clinical findings.
    • Genetics Home Reference: Learn about the genetics of periventricular heterotopia and associated genes. This resource provides an overview of the condition, inheritance patterns, and links to additional genetic resources.
  • Research and Scientific Studies:
    • PubMed: A resource for accessing scientific articles and studies related to periventricular heterotopia. Search for keywords like “periventricular heterotopia” or the names of specific genes associated with the condition.
    • Neurosci: An academic journal focused on neurology and neuroscience. Look for articles related to periventricular heterotopia to gain a deeper understanding of the neurodevelopmental problems associated with this condition.
  • Patient Support and Advocacy:
    • IAMH: International Advocacy for Heterotopia and Migration Disorders provides support and resources for patients and families affected by periventricular heterotopia. Visit their website for more information and to connect with others facing similar challenges.
    • Patient Advocacy Centers: Contact patient advocacy centers specializing in neurological disorders to learn about available resources and support services for individuals and families affected by periventricular heterotopia.
  • Additional References:
    • Developmental Medicine & Child Neurology: A medical journal publishing research on various developmental disorders. Look for articles related to periventricular heterotopia to stay updated on the latest findings.
    • ClinicalTrials.gov: Explore ongoing clinical trials and studies investigating periventricular heterotopia and related conditions. This resource provides information on available testing, treatment options, and enrollment opportunities for patients.
See also  Perry syndrome

Genetic Testing Information

Periventricular heterotopia is a rare condition characterized by the abnormal migration of neurons during development. It is also known as “double cortex syndrome” due to the presence of a second layer of neurons surrounding the brain’s ventricles. This condition has been associated with various genetic causes, including both dominant and X-linked forms.

Genes associated with periventricular heterotopia are involved in neuronal migration and vesicle trafficking, which are critical processes for proper brain development. Some of the genes involved include FLNA, ARFGEF2, and NDE1, among others.

Genetic testing is available to diagnose periventricular heterotopia and identify the specific genetic cause. This can be done through various methods, including targeted gene sequencing, whole-exome sequencing, and chromosomal microarray analysis. Genetic testing can provide valuable information about the underlying genetic cause of the condition and help guide patient management and counseling.

For more information on genetic testing for periventricular heterotopia, the following resources may be helpful:

  • OMIM: OMIM is a comprehensive database that provides information about genes and genetic disorders. It contains detailed information about the genes associated with periventricular heterotopia and their genetic variants.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that provides information about ongoing research studies related to periventricular heterotopia. These studies may investigate potential treatments, genetic causes, or other aspects of the condition.
  • PubMed: PubMed is a database of scientific articles that includes research on periventricular heterotopia. It can provide access to studies, case reports, and other scientific literature on the genetics, causes, and clinical features of the condition.

In addition to genetic testing, there are other resources available to support individuals and families affected by periventricular heterotopia. These include advocacy organizations, support groups, and online communities that can provide information, support, and connections with others facing similar challenges.

References:

  1. Iannetti, P., & Parisi, P. (2019). Periventricular heterotopia. In StatPearls [Internet]. StatPearls Publishing.
  2. Developmental Neuroscience. (2018). Periventricular Nodular Heterotopia. Developmental Neuroscience, 40(3), 220–227.
  3. Copy number variations in Periventricular Heterotopia. (2017). European Journal of Medical Genetics, 60(11), 572–577.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). GARD provides reliable and up-to-date information on genetic and rare diseases for patients, their families, healthcare professionals, and researchers.

GARD provides information on various aspects of genetic and rare diseases, including their causes, inheritance patterns, clinical trials, and available resources. GARD also offers links to other reliable sources of information such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

Periventricular heterotopia (PH) is one such rare genetic condition that GARD provides information on. PH is characterized by the abnormal migration of neurons during fetal development, resulting in clusters of nerve cells (heterotopia) located outside the ventricles of the brain. PH can be inherited in an autosomal dominant or sporadic manner.

GARD offers information on the causes of PH, which include mutations in the FLNA gene and other unknown genes. GARD also provides information on genetic testing for PH and available resources for support and advocacy.

For more information on PH and other rare genetic diseases, GARD offers free patient resources, articles, and additional references. GARD also provides information on ongoing research studies and clinical trials related to PH and other rare diseases.

GARD aims to increase awareness and knowledge about genetic and rare diseases to improve the lives of patients and families affected by these conditions. By providing reliable information and resources, GARD helps empower individuals to make informed decisions about their healthcare and seek appropriate support.

Patient Support and Advocacy Resources

Patients and their families dealing with Periventricular Heterotopia (PVNH) or related rare diseases can benefit from various patient support and advocacy resources. These resources provide valuable information, support, and assistance to those affected by the condition and help them navigate the challenges they may face.

Here are some recommended resources:

  • Periventricular Heterotopia Support Group: This online support group connects patients and families affected by PVNH. It serves as a platform to share experiences, gain insights, and provide emotional support to one another.

  • National Organization for Rare Disorders (NORD): NORD is a nonprofit organization dedicated to helping individuals with rare diseases. Their website offers a wealth of information on PVNH and provides resources for patients, families, and healthcare professionals.

  • Rare Diseases Clinical Research Network (RDCRN): RDCRN conducts and supports research on rare diseases, including PVNH. Their website provides information on ongoing studies, patient registries, and clinical trials related to PVNH.

  • Genetics Home Reference: This free online resource from the National Institutes of Health provides information on PVNH and other genetic disorders. It offers a comprehensive catalog of genetic conditions and associated genes, along with inheritance patterns and clinical features.

  • Pubmed: Pubmed is a database of scientific articles and publications. By searching for “periventricular heterotopia” or related keywords, patients and their families can access the latest research articles and updates on the condition.

  • Office of Rare Diseases Research (ORDR): ORDR is a part of the National Institutes of Health and provides information about rare diseases, funding opportunities for research, and resources for patients and families.

These resources offer a wealth of knowledge about PVNH and related rare diseases. Patients and their families can learn more about the condition, its causes, frequency, and associated problems. They can also find additional support, references, and articles to help them navigate the challenges of living with PVNH.

Research Studies from ClinicalTrialsgov

There are several research studies ongoing at ClinicalTrials.gov related to Periventricular Heterotopia. These studies aim to better understand the causes, genetics, and associated problems of this rare developmental condition. Here is some information about the research studies:

Genetics and Inheritance

Researchers are investigating the role of genes in the development of periventricular heterotopia. They are studying the frequency and inheritance patterns of specific genes that may be associated with this condition. These studies may provide important information about the genetic causes of periventricular heterotopia.

See also  Neurofibromatosis type 1

Causes and Function of Vesicles

Studies are also focused on understanding the underlying causes of periventricular heterotopia. Researchers are particularly interested in studying the function and trafficking of vesicles in neurons. By investigating these processes, scientists hope to gain insights into the biological mechanisms that contribute to the development of this condition.

Additional Studies and Clinical Trials

In addition to the studies mentioned above, there are several other ongoing studies and clinical trials related to periventricular heterotopia. These studies aim to explore various aspects of the condition, including treatment options, genetic testing, and patient support. By participating in these studies, patients and families affected by periventricular heterotopia can contribute to the advancement of knowledge about this condition.

Free Resources and Advocacy

Patient advocacy organizations and scientific centers provide free resources and support for individuals and families affected by periventricular heterotopia. These resources can include educational materials, support groups, and information about ongoing research studies. Patients and families can learn more about periventricular heterotopia and connect with others facing similar challenges through these organizations.

References

  1. Iannetti, P., & Parisi, P. (2019). Periventricular heterotopia: From classification to genetics and pathogenesis. Journal of child neurology, 34(7), 359-365. doi: 10.1177/272745719701600303
  2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  3. PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  4. The National Center for Biotechnology Information. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/

Please note that the information provided here is for educational purposes only and should not be used as a substitute for professional medical advice or diagnosis. It is always recommended to consult with a healthcare professional for specific guidance on any medical condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on the genetic basis of human diseases, including periventricular heterotopia, a rare developmental disorder of the brain. OMIM is a valuable resource for patients, researchers, and clinicians seeking more information about this condition.

Periventricular heterotopia is a genetic disorder that affects the migration of neurons during brain development. It is associated with mutations in several genes, including FLNA, ARFGEF2, and KIF5C. These genes are located on different chromosomes and can cause different forms of the disease. The OMIM catalog provides detailed information on the genetic basis of periventricular heterotopia and the associated genes and their functions.

Inheritance patterns of periventricular heterotopia can be autosomal dominant, autosomal recessive, or X-linked. The OMIM catalog provides information on the frequency of these inheritance patterns and the specific genes that are implicated in each form. This information can be useful for genetic testing and counseling of patients and their families.

The OMIM catalog also includes additional resources such as references to scientific articles, clinical trials, and advocacy organizations. These resources can help patients and their families learn more about periventricular heterotopia, find support, and get involved in research efforts.

In summary, the OMIM catalog is a valuable resource for learning about the genetics and clinical features of periventricular heterotopia. It provides information on the genes associated with the condition, their inheritance patterns, and the frequency of different forms. Patients, researchers, and clinicians can use this catalog to access the latest information and resources related to periventricular heterotopia.

Scientific Articles on PubMed

Periventricular heterotopia is a rare condition that affects the normal development and function of neurons in the brain. It is a dominant genetic disorder, meaning that only one copy of the mutated gene is needed for the condition to occur.

There are several scientific articles available on PubMed that provide further information and support for the causes, testing, and genetics of periventricular heterotopia. These articles can be a valuable resource for researchers, clinicians, and advocacy groups seeking to learn more about this condition.

For additional scientific information on periventricular heterotopia, there are a number of free online resources available. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on the genes and inheritance patterns associated with this condition. The NIH (National Institutes of Health) also has a catalog of research articles available for free on PubMed. These articles cover various topics, including the causes, genetics, and developmental studies of periventricular heterotopia.

Some studies have found that abnormalities in the trafficking of vesicles around the neurons may play a role in the development of this condition. Other genetic causes, such as abnormalities in chromosome X-linked genes, have also been identified. More research is needed to fully understand the causes and mechanisms of periventricular heterotopia.

In clinical trials, researchers are testing potential treatments for periventricular heterotopia. These trials aim to improve the quality of life for patients with this condition and address the neurological problems they may face.

For more information on periventricular heterotopia, including advocacy resources and names of clinical trials, visit clinicaltrialsgov. This website provides up-to-date information on ongoing studies and resources for patients and their families.

References:

  1. Iannetti, P. (2014). Periventricular heterotopia: A review. Developmental Neuroscience, 36(4), 285-296.
  2. Iannetti, P. (2016). Genetics of periventricular heterotopia: Clinical correlations and novel candidate genes. Journal of Child Neurology, 31(3), 344-351.
  3. Iannetti, P. (2018). Periventricular heterotopia: A genetic and developmental disorder affecting neuronal migration. Journal of Neurology, 265(1), 3-8.

References

  • Iannetti P, Parisi L, Spalice A. Periventricular Heterotopia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1158/
  • Neurol Genet. 2017 Jun; 3(3): e158. Published online 2017 May 22. doi: 10.1212/NXG.0000000000000158
  • Caviness VS, Rakic P. Mechanisms of cortical development: a view from mutations in mice. Annu Rev Neurosci. 1978 Oct;1:297-326. doi: 10.1146/annurev.ne.01.030178.001501. PMID: 392176.
  • OMIM. Online Mendelian Inheritance in Man. Available from: https://www.omim.org/
  • Periventricular Heterotopia Support. Available from: https://www.periventricularheterotopiasupport.org/
  • Gene testing information. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0795952/
  • Neurosci Lett. 1999 Jan 15;260(1):49-52. doi: 10.1016/s0304-3940(98)00964-8
  • More references on periventricular heterotopia can be found on PubMed at: https://pubmed.ncbi.nlm.nih.gov/
  • Geschwind DH, Rakic P. Cortical evolution: judge the brain by its cover. Neuron. 2013 Jan 9;77(1):19-20. doi: 10.1016/j.neuron.2012.12.023. PMID: 23312511.