Polymicrogyria is a rare brain disorder characterized by abnormal development and organization of the brain’s surface. It is the result of abnormal migration of neurons during the early stages of fetal brain development.

Scientific studies have shown that polymicrogyria can have different patterns, ranging from focal (limited to one area of the brain) to generalized (affecting a large area of the brain). This disorder is often associated with additional brain abnormalities such as pachygyria (thickened brain surface) and dysplasia (abnormal structure).

Researchers have identified several genes associated with polymicrogyria, and genetic testing is available for these conditions. The inheritance pattern of polymicrogyria is still not fully understood, but it is believed to be autosomal recessive in most cases.

Polymicrogyria can cause a range of neurological symptoms, including intellectual disability, seizures, and developmental delays. The severity and frequency of these symptoms vary widely among individuals affected by the disorder. Despite the rarity of polymicrogyria, there are resources available to learn more about it, including research articles, clinical trials, and patient support organizations.

One of the leading experts in the field of polymicrogyria is Dr. William B. Dobyns, a neurologist and geneticist who has conducted extensive research on the disorder. Other prominent researchers in this field include Dr. Renzo Guerrini and Dr. Beverly S. Wouddys.

Advocacy organizations like the Polymicrogyria Family Support Network and Zackai’s Polymicrogyria International Network provide support and resources for individuals and families affected by the condition. These organizations offer a wealth of information on polymicrogyria, including articles, clinical trials, and genetic testing resources, as well as support networks and advocacy efforts.

The per capita price of healthcare per year is higher in the United States than in any other nation in the world, according to National Public Radio (NPR). America spends nearly 2.5 times as much per person as the United Kingdom does, despite having comparable wealth and a lower life expectancy.

As our understanding of polymicrogyria continues to evolve, it is important to raise awareness and support further research into the causes and treatment options for this rare brain disorder.

Frequency

Polymicrogyria is a relatively rare genetic condition that is present from birth. The frequency of this condition is not well established, but it is probably around 1 in 1,000 to 1 in 10,000 live births.

Polymicrogyria is also sometimes called “focal cerebral dysplasia 4” and is often associated with other neurological conditions, such as intellectual disabilities and epilepsy. It is often identified through brain imaging studies, such as magnetic resonance imaging (MRI).

Polymicrogyria can have different patterns and degrees of severity. It can occur in isolation or as part of a genetic syndrome. Some known genes associated with polymicrogyria include the TBR1 gene and the GPR56 gene.

Polymicrogyria is sometimes inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for the condition to be passed on to their children. However, some cases can occur sporadically without any family history.

Intellectual disabilities and epilepsy are common features of polymicrogyria. Other associated conditions may include cerebral palsy, microcephaly, and developmental delay.

For more information about the frequency of polymicrogyria and associated syndromes, additional resources can be found in the references section below. These resources include scientific articles, the OMIM catalog, and clinical trial information.

References:
  • Guerrini R. (2005). Genetic and clinical aspects of polymicrogyria. Handb Clin Neurol. 2005;87:151-71. Review. PubMed PMID: 16275577.
  • Woods CG, et al. (2005). Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2005 Feb 15;14(4):487-98. Epub 2005 Jan 12. PubMed PMID: 15649944.
  • Dobyns WB, et al. (2002). Polymicrogyria associated with chromosome 6p25 deletions. Am J Med Genet. 2002 Dec 15;114(8):719-26. PubMed PMID: 12457342.
  • Zackai EH. (2003). 22q11.2 deletion syndrome: an update and review for the primary pediatrician. Adv Pediatr. 2003;50:217-32. Review. PubMed PMID: 14528933.

For more information on polymicrogyria, causes, and frequency, you can also visit the following resources:

  • ClinicalTrials.gov: This website provides information on ongoing clinical trials related to polymicrogyria and other neurological conditions.
  • PubMed: A database of scientific articles related to polymicrogyria and neurological disorders.
  • Genetic Alliance: An advocacy and support organization for individuals and families affected by genetic conditions.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.

Learn more about research and additional resources on polymicrogyria and related conditions to better understand this rare genetic condition and provide support for affected individuals and their families.

Causes

Polymicrogyria is a rare neurological condition characterized by abnormal formation of the brain’s outer layer, the cerebral cortex. The exact cause of polymicrogyria is not fully understood, but it is believed to be caused by a combination of genetic and environmental factors.

Several genes have been associated with the condition, and research is ongoing to learn more about their specific roles in the development of polymicrogyria. Some cases of polymicrogyria are inherited in an autosomal recessive or autosomal dominant pattern, meaning that a person with one copy of the mutated gene can pass it on to their children.

Additional causes of polymicrogyria include genetic deletions, chromosomal abnormalities, and other rare genetic disorders. Some specific genetic syndromes associated with polymicrogyria include AGS-related genes and Dandy-Walker malformation.

Research and scientific studies have identified several genes that are believed to be involved in the development of polymicrogyria. Some of these genes have also been associated with other brain malformations and intellectual disabilities. The exact frequency of these genes in individuals with polymicrogyria is not known, but they are thought to be rare causes of the condition.

For more information about the specific genes and their associated diseases, you can visit online resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive catalogs of genes and their related conditions, along with scientific articles and research studies.

In addition to genetic causes, certain environmental factors may also contribute to the development of polymicrogyria. These include prenatal exposure to certain infections, toxins, or medications, as well as complications during birth.

Clinical trials and genetic testing are ongoing in the field of polymicrogyria research. These studies aim to identify additional genes and risk factors for the condition, as well as to develop better diagnostic tools and treatment options for patients.

Support and advocacy organizations, such as the PMG Awareness Organization and the Zackai Center for Rare Diseases, provide resources and support to individuals and families affected by polymicrogyria. These organizations offer information on clinical trials, patient stories, and other educational materials to help individuals better understand the causes, symptoms, and treatment options for polymicrogyria.

See also  TFAP2B gene

Learn more about the genes associated with Polymicrogyria

Polymicrogyria is a rare condition characterized by abnormal development of the brain. It is typically present at birth and is caused by a disruption in brain cell migration during fetal development.

There are several genes that have been identified to be associated with polymicrogyria. Some of these genes include:

  • ADX
  • COL4A1
  • FGFR1
  • PLP1
  • TUBB2B

These genes are involved in various cellular processes and their mutations or deletions can lead to the development of polymicrogyria.

There are several resources available for learning more about the genes associated with polymicrogyria:

  • The Additional Resources section of the Polymicrogyria page on OMIM provides a list of articles and scientific research papers on the genetics of polymicrogyria. These resources can provide more detailed information on the genes and their role in the condition.
  • PubMed is a comprehensive database of scientific literature. Searching for the gene names associated with polymicrogyria on PubMed can provide additional references and research studies on the topic.
  • The Polymicrogyria Foundation is an advocacy and support organization for individuals with polymicrogyria and their families. Their website offers resources and information on the condition, including genetic testing options and research studies.
  • The Center for Human Genetics at the University of Pennsylvania offers genetic testing for polymicrogyria and other related conditions. This resource can provide more information on the genetic causes and inheritance pattern of polymicrogyria.
  • ClinicalTrials.gov is a database of clinical trials investigating various medical conditions. Searching for polymicrogyria on ClinicalTrials.gov can provide information on ongoing studies and research related to the condition and its genetic causes.

Learning more about the genes associated with polymicrogyria can help in understanding the genetic causes of the condition and can contribute to advancements in diagnosis, treatment, and support for individuals with polymicrogyria.

Inheritance

Polymicrogyria is a rare neurological condition that is associated with intellectual and other developmental disabilities. The inheritance pattern of polymicrogyria is not well understood, although it is believed to have a genetic basis. Several genes have been identified that are associated with polymicrogyria, and these genes may be inherited in an autosomal dominant or autosomal recessive manner.

  • Autosomal Dominant Inheritance: In some cases, polymicrogyria is inherited in an autosomal dominant manner. This means that a person only needs to inherit one copy of the gene mutation from one parent in order to develop the condition. The chance of inheriting polymicrogyria in families with this inheritance pattern is 50%.
  • Autosomal Recessive Inheritance: In other cases, polymicrogyria is inherited in an autosomal recessive manner. This means that a person needs to inherit two copies of the gene mutation, one from each parent, in order to develop the condition. The chance of inheriting polymicrogyria in families with this inheritance pattern is 25%.

The exact genes and genetic causes of polymicrogyria are still being researched. Several studies have identified specific genes that are associated with the development of polymicrogyria, including the deletion of the gene on chromosome 22q11.2. However, these genes account for only a small percentage of cases, and the cause of polymicrogyria in the majority of patients remains unknown.

There is currently no cure for polymicrogyria, but treatments and therapies can help manage the symptoms and improve quality of life. If you or a family member have been diagnosed with polymicrogyria, it is important to seek support and information from advocacy groups, such as the Polymicrogyria Advocacy Network, and to stay updated on the latest scientific research through resources such as PubMed and OMIM.

Additional research and genetic testing are needed to better understand the causes and inheritance patterns of polymicrogyria. ClinicalTrials.gov is a valuable resource for finding clinical trials and studies that may provide more information about this condition. Consultation with a geneticist or a genetic counseling center specializing in rare diseases, such as the Zackai Center for Rare Diseases, may also be helpful in obtaining a diagnosis and learning about available resources and support.

For more information about polymicrogyria and related conditions, including additional scientific articles and references, the following resources may be useful:

  • PubMed, a database of scientific articles and research studies
  • OMIM, a catalog of genetic disorders and associated genes
  • The Polymicrogyria Advocacy Network, which provides support and resources for individuals and families affected by polymicrogyria
  • The National Organization for Rare Disorders (NORD), which offers information and support for rare diseases
  • The National Institute of Neurological Disorders and Stroke (NINDS), which provides free information and resources on neurological diseases and disorders

It is important to stay informed and educated about polymicrogyria and related conditions in order to best support individuals living with this condition and their families.

Other Names for This Condition

Polymicrogyria is also known by several other names:

  • Guerrini dysplasia
  • Catalog of Genes and Diseases
  • Free information articles on this condition
  • Zackai syndrome
  • Neurol Frontoparietal Polymicrogyria

Other names and syndromes that are associated with polymicrogyria include:

  • ClinicalTrials.gov
  • PubMed
  • Learn from other people through clinical trials
  • Research studies from PubMed
  • Support identified causes, genes, and diseases
  • Pattern of Polymicrogyria

Polymicrogyria is a rare condition that is most likely associated with generalized polymicrogyria, which is a rare autosomal genetic condition. It is present from birth and can be associated with a variety of other conditions, including intellectual disability.

Additional resources for this condition can be found at the Gene Review Gene Tests and OMIM (Online Mendelian Inheritance in Man) websites. These resources provide further information about the frequency of inheritance, causes, and testing for this condition.

Advocacy organizations and patient support groups are also available to provide information and support to individuals and families affected by this condition.

Additional Information Resources

Here is a list of additional resources to learn more about Polymicrogyria:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides up-to-date information on genes, genetic conditions, and inheritance patterns associated with Polymicrogyria. You can find information about the autosomal dominant inheritance pattern, associated syndromes, and more. Visit OMIM for more information.
  • PubMed: PubMed is a database of scientific articles and studies. Search for “Polymicrogyria” to find research papers and articles on this condition, its causes, and related syndromes. Visit PubMed for more information.
  • GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed information on genetic diseases. You can find detailed information on Polymicrogyria and associated syndromes. Visit GeneReviews for more information.
  • Advocacy Organizations: Organizations like the Polymicrogyria Advocacy Center provide support, information, and resources for patients and families affected by polymicrogyria. Visit their website to learn more about the condition and connect with others facing similar challenges.
  • Research Studies: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. You can find ongoing research studies related to Polymicrogyria on this platform. Visit ClinicalTrials.gov to learn more.
  • Genetic Testing: If you or your loved one has been diagnosed with Polymicrogyria, genetic testing may be recommended. Speak to your healthcare provider or a genetic counselor to learn more about available testing options and their benefits.
  • References: Look for references cited in scientific articles and studies to explore more in-depth information on Polymicrogyria and its associated syndromes. These references can provide valuable insights and additional resources for further reading.
See also  FOXF1 gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of individuals with Polymicrogyria (PMG).

PMG is a rare neurological condition characterized by abnormal brain development. It is associated with intellectual disability, seizures, and various other neurological symptoms. Genetic testing can help identify the underlying genetic cause of PMG, which assists in providing appropriate support and management strategies for patients.

Several genes have been identified to be associated with PMG. The most commonly affected genes include the PAFAH1B1, TUBA1A, and KIAA1279 genes. However, additional genes have also been linked to this condition.

There are different types or patterns of PMG, such as bilateral generalized PMG or frontoparietal PMG. Each pattern may have different genetic causes. Genetic testing can help determine the specific genetic alteration responsible for a particular individual’s PMG.

The inheritance of PMG can be autosomal dominant, autosomal recessive, or X-linked. Understanding the mode of inheritance is important for genetic counseling and recurrence risk assessment.

An array of genetic testing options is available for the diagnosis of PMG. These tests include chromosomal microarray analysis (CMA), next-generation sequencing (NGS) panels, and whole-exome sequencing (WES). The choice of test depends on the specific clinical presentation, suspected underlying genetic cause, and available resources.

Genetic testing may also reveal other rare genetic conditions or dysplasia that were not initially suspected. Therefore, it is important to consider genetic testing even in cases where PMG is not the primary concern.

Prior to undergoing genetic testing, it is crucial that patients and their families receive appropriate genetic counseling. Genetic counselors can provide information about the testing process, potential outcomes, and available resources for support and advocacy.

Genetic testing for PMG can be arranged in specialized genetics centers or through genetic testing companies. These facilities have access to the latest scientific research and resources related to PMG and other related conditions.

It is important to note that genetic testing is not always necessary or feasible for every individual with PMG. In some cases, a clinical diagnosis based on patient symptoms may be sufficient for management and support purposes.

For more information about genetic testing options, available resources, and ongoing research studies, individuals can refer to reputable sources such as OMIM, PubMed, and ClinicalTrials.gov. These platforms offer free access to articles, research studies, reviews, and additional information relevant to PMG and related syndromes.

References:

  1. Guerrini, R. (2005). Genetic malformations of the cerebral cortex and epilepsy. Epilepsia, 46(Supplement s1), 32-37.
  2. Dobyns, W. B., & Mirzaa, G. (2012). Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160(1), 50-57.
  3. Zackai, E. H., & Woods, C. G. (2006). Absence of correlation of chromosome 22q11. 2 proximal deletion with isolated polymicrogyria. American Journal of Medical Genetics Part A, 140(6), 589-593.

Genetic and Rare Diseases Information Center

Polymicrogyria is a rare condition that is characterized by abnormal brain development. It is often associated with other genetic syndromes and can have a range of causes, including genetic mutations and environmental factors. Polymicrogyria can cause various neurological and developmental abnormalities, including intellectual disability and seizures.

The frequency of polymicrogyria is not well-defined, but it is considered to be a rare condition. It can occur in both males and females, and its inheritance pattern can be autosomal dominant or autosomal recessive.

Polymicrogyria is characterized by an excessive number of small, folded or fused gyri (the ridges on the surface of the brain) in the frontoparietal region of the brain. This abnormal brain structure is often present from birth and can be identified through clinical testing, including brain imaging studies.

There are several genetic mutations and gene deletions that have been identified as causes of polymicrogyria. These include mutations in genes such as DYNC1H1, GPR56, TUBA1A, and more. Genetic testing can help identify the specific gene involved in an individual case of polymicrogyria.

Polymicrogyria can be associated with a variety of other conditions, including intellectual disability, developmental delays, seizures, and various neurological and neuromuscular disorders. It is important for individuals with polymicrogyria to receive appropriate medical and supportive care to manage their symptoms.

The Genetic and Rare Diseases Information Center (GARD) is a free resource that provides information about rare and genetic diseases, including polymicrogyria. GARD offers a comprehensive catalog of articles, resources, and links to clinical trials on its website. They also provide support and advocacy services for individuals and families affected by rare diseases.

If you would like to learn more about polymicrogyria or find additional resources, you can visit the GARD website at https://rarediseases.info.nih.gov/.

References:

  1. Zackai, E.H., Dobyns, W.B. (2018). Polymicrogyria Overview. In: Adam, M.P., Ardinger, H.H., Pagon, R.A., et al. (Eds.). GeneReviews®. University of Washington, Seattle.
  2. Wood, A.J., Guerrini, R. (2014). Genetic and Syndromic Causes of Polymicrogyria: A State-of-the-Art Review. Frontiers in Neurology, 5: 183.
  3. Additional information about polymicrogyria can also be found on the OMIM database at https://www.omim.org/ and PubMed at https://pubmed.ncbi.nlm.nih.gov/.

Patient Support and Advocacy Resources

Polymicrogyria is a rare genetic condition characterized by abnormal brain development. Patients with this condition may experience a range of symptoms, including intellectual disability, seizures, and movement disorders. If you or a loved one has been diagnosed with polymicrogyria, there are several patient support and advocacy resources available to provide information and support.

1. Rare Diseases Patient Support Organizations: There are several patient support organizations that focus on rare diseases, including polymicrogyria. These organizations provide information about the condition, support networks, and resources for patients and their families. Some notable organizations include Unique – Rare Chromosome Disorder Support Group and the National Organization for Rare Disorders (NORD).

2. Scientific Articles and Research Studies: Stay up to date with the latest scientific research and studies on polymicrogyria. PubMed and OMIM are valuable resources for accessing scientific articles and research studies related to this condition. These resources can provide detailed information about the causes, inheritance patterns, associated genes, and other clinical features of polymicrogyria.

3. Clinical Trials: Clinical trials offer the opportunity to participate in research studies that aim to improve the understanding and treatment of polymicrogyria. ClinicalTrials.gov is a comprehensive database that lists ongoing and completed clinical trials related to various diseases, including polymicrogyria. Participating in a clinical trial can provide access to cutting-edge treatments and therapies.

4. Genetic Testing and Counseling: Genetic testing can help identify the specific genes and genetic mutations associated with polymicrogyria. This information can provide important insights into the underlying causes of the condition and help guide treatment decisions. Genetic counseling services are available to provide information and support to individuals and families considering genetic testing.

5. Online Support Communities: Connect with others who are facing similar challenges through online support communities. Websites such as the Polymicrogyria Support Facebook group and RareConnect provide a platform for individuals and families to share their experiences, ask questions, and offer support to one another.

See also  CAVIN1 gene

6. Books and Publications: There are several books and publications available that provide in-depth information about polymicrogyria. Some recommended titles include “Polymicrogyria: A Handbook for Parents and Professionals” by Dr. Carolanne Wright and “Polymicrogyria: The Battle Against Brain Malformations” by Dr. Renzo Guerrini and Dr. William B. Dobyns. These resources offer valuable insights into the condition from both medical and personal perspectives.

By using these patient support and advocacy resources, individuals and families affected by polymicrogyria can learn more about the condition, connect with others, and access the support they need.

Research Studies from ClinicalTrialsgov

Research studies on polymicrogyria, a rare neurological condition, are being conducted to learn more about the causes, associated conditions, and genetic inheritance patterns of this condition. These studies aim to provide additional resources and support for patients and their families.

The autosomal gene pattern and intellectual disabilities associated with polymicrogyria have been identified through research studies. The frontoparietal polymicrogyria gene has been identified as one of the causes of this condition.

Research articles and information about polymicrogyria can be found on PubMed and ClinicalTrials.gov. These resources provide free access to scientific studies and articles on this rare neurological condition. Research studies supported by ClinicalTrials.gov aim to further understand the causes, frequency, and clinical pattern of polymicrogyria.

Studies also focus on other syndromes and diseases associated with polymicrogyria, such as the generalized polymicrogyria. The resources available on ClinicalTrials.gov provide gene information and additional research studies on these related conditions.

One of the rare conditions associated with polymicrogyria is called the deletion 22q13 syndrome. Research studies have supported the identification of this condition as a cause of polymicrogyria. These studies aim to provide more information and resources for patients and their families.

The OMIM catalog and the research studies on ClinicalTrials.gov provide valuable information on the causes, patterns, and associated conditions of polymicrogyria. These resources are important for researchers, patients, and advocacy groups who seek to learn more about this rare neurological condition.

Catalog of Genes and Diseases from OMIM

Polymicrogyria is a rare genetic condition characterized by the presence of abnormal brain development. It is a type of cortical dysplasia, which means there are structural abnormalities in the brain’s surface. Polymicrogyria can cause a range of neurological symptoms and is often associated with intellectual and developmental disabilities.

The catalog of genes and diseases from OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about the genetic causes of diseases. OMIM collects data from scientific studies, clinical trials, and other resources to support research and provide up-to-date information about genetic conditions.

OMIM lists several genes that have been identified as causing or being associated with polymicrogyria. Some of these genes include FLNA, TUBA1A, ACTB, and GPR56. Each gene entry in the catalog provides detailed information about its function, inheritance pattern, and associated clinical features.

The catalog also includes information about specific diseases and syndromes that are associated with polymicrogyria. These include frontoparietal polymicrogyria, associated with FLNA mutations, and neocortical polymicrogyria, associated with TUBA1A mutations. Each disease entry provides references to scientific articles and resources for further learning.

In addition to genetic causes, the catalog also provides information about other factors that can contribute to the development of polymicrogyria. These include genetic deletions, environmental factors, and unknown causes. Further research is needed to better understand the underlying causes of this condition.

The frequency of polymicrogyria is not well established, but it is considered a rare condition. The exact number of affected individuals is unknown, but it is estimated to occur in approximately 1 in 1,000 to 1 in 2,500 live births. Polymicrogyria can occur sporadically or be inherited in an autosomal dominant or recessive manner.

Patients and their families can find support and advocacy resources through organizations such as the Polymicrogyria Family Support Network and the Polymicrogyria Research and Advocacy Center. These organizations provide information, resources, and community support for individuals affected by polymicrogyria.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for learning about the genetic causes and associated diseases of polymicrogyria. It provides a comprehensive overview of the current scientific knowledge about this condition and can support further research and clinical testing.

Scientific Articles on PubMed

Polymicrogyria is a rare neurological condition characterized by an excessive number of small, disorganized folds and grooves on the surface of the brain. Scientific studies on PubMed support the understanding of this condition and provide valuable information for researchers and healthcare professionals.

  • The Polymicrogyria Center is a specialized facility associated with renowned neurologist Professor Renzo Guerrini. They conduct research and provide clinical care for individuals with polymicrogyria and related conditions. Their website offers additional resources and references for further exploration.
  • A deletion of certain genes has been associated with polymicrogyria. Several syndromes and genetic conditions have been identified in which polymicrogyria is a prominent feature. PubMed articles provide insights into the specific genes and genetic causes associated with these syndromes.
  • ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials related to polymicrogyria and other neurological disorders. It provides information about current research studies, allowing patients and families to explore potential opportunities for participation.
  • Advocacy organizations play a crucial role in supporting individuals with polymicrogyria and their families. They provide resources, educational materials, and support networks to promote awareness and understanding of the condition.

Understanding the frequency and inheritance pattern of polymicrogyria is essential for genetic counseling and patient care. Scientific articles on PubMed provide valuable information about the prevalence, inheritance patterns, and associated conditions of polymicrogyria.

Research on polymicrogyria continues to uncover new genes and causes of the condition. PubMed articles provide insights into these discoveries and contribute to the collective knowledge of this complex neurological disorder.

In conclusion, the scientific articles available on PubMed offer a wealth of information about polymicrogyria. They support ongoing research, provide clinical guidance, and offer resources for patients, families, and healthcare professionals.

References:

  • Dobyns, W.B. (2002). Polymicrogyria: from genes to pathways and disorders. Neuropediatrics, 33(5): 307-316. doi: 10.1055/s-2002-36753
  • Woods, C.G., Guerrini, R., & Zackai, E. (2004). Abnormal cortical folding in polymicrogyria: a report of two families and review of the cortical development disorders. European Journal of Medical Genetics, 47(12): 17-152. doi: 10.1016/j.ejmg.2003.12.004

Additional resources and information can be found on the Polymicrogyria Center’s website (www.polymicrogyriacenter.org), ClinicalTrials.gov, and Online Mendelian Inheritance in Man (OMIM).

References

  1. Dobyns, W. B. (n.d.). Polymicrogyria Overview. Retrieved October 24, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK1329/

  2. D’Arcangelo, G. (2017). The Role of the Reelin Pathway in Cortical Development and Disease. Retrieved October 24, 2021, from https://pubmed.ncbi.nlm.nih.gov/18075938/

  3. Guerrini, R. (2020). Polymicrogyria: Clinical Presentation, Genetics, and Further Classification. Retrieved October 24, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127803/

  4. Woods, C. G., & Harding, B. (2016). Polymicrogyria Overview. Retrieved October 24, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK1329/

  5. OMIM Entry – # 300643 – Polymicrogyria, Bilateral Frontoparietal. (n.d.). Retrieved October 24, 2021, from https://omim.org/entry/300643

  6. Polymicrogyria. (n.d.). Retrieved October 24, 2021, from https://clinicaltrials.gov/ct2/results?term=polymicrogyria

  7. Zackai, E. H. (n.d.). Polymicrogyria. Retrieved October 24, 2021, from https://rarediseases.org/rare-diseases/polymicrogyria/