Subcortical band heterotopia, also known as double cortex syndrome, is a rare genetic disorder characterized by the presence of an additional band of neurons located below the normal cortex. This condition is caused by mutations in certain genes associated with neuronal migration during brain development.
Subcortical band heterotopia can be inherited in an X-linked dominant or autosomal dominant manner, although sporadic cases with no family history have also been reported. Mutations in genes such as DCX, LIS1, and ARX have been identified as the primary causes of this condition.
Patients with subcortical band heterotopia often have severe neurodevelopmental abnormalities, including intellectual disability, epilepsy, and motor impairments. The severity of symptoms can vary among individuals, with some patients being more severely affected than others.
Diagnosis of subcortical band heterotopia is usually confirmed through genetic testing, which can detect mutations in the relevant genes. Additional imaging studies, such as magnetic resonance imaging (MRI), may also be performed to visualize the subcortical bands and assess the extent of the brain malformation.
Although there is currently no cure for subcortical band heterotopia, supportive treatments and therapies can help manage the symptoms and improve quality of life. Ongoing research studies and clinical trials are focused on understanding the underlying mechanisms of the condition and developing more targeted treatment approaches.
For more information about subcortical band heterotopia, resources such as the OMIM catalog, PubMed research articles, and clinicaltrials.gov can provide valuable information on the genetics, inheritance patterns, and available support and advocacy resources for patients and their families.
Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.
Frequency
Subcortical band heterotopia, also called double cortex syndrome or band heterotopia, is a rare condition characterized by the presence of additional bands of neurons located below the cerebral cortex. These bands are formed during brain development and are usually not present in individuals with normal brain development.
The frequency of subcortical band heterotopia in the general population is estimated to be less than 1 in 1,000,000 individuals. However, the exact prevalence of this condition is difficult to determine due to its rarity and the lack of large-scale population studies.
Subcortical band heterotopia can occur as an isolated condition or as part of other genetic syndromes. Mutations in genes such as FLNA (associated with X-linked inheritance) and DCX (associated with inheritance patterns other than X-linked) have been found to cause subcortical band heterotopia. More genes are still being identified through ongoing scientific research.
Supportive scientific research and additional studies are needed to understand the causes, frequency, and inheritance patterns of subcortical band heterotopia better.
Resources such as OMIM, PubMed, and clinicaltrialsgov provide more information about subcortical band heterotopia, including genetic testing resources and clinical trials that individuals with this condition and their families can consider.
Advocacy organizations and patient support resources can also provide valuable information and support to individuals and families affected by subcortical band heterotopia, helping them better understand the condition and manage their symptoms.
Causes
Subcortical band heterotopia is a genetic disorder, most commonly caused by mutations in the X-linked DCX gene. The condition is usually inherited in an X-linked dominant manner, with affected individuals inheriting the mutation from a carrier mother.
Subcortical band heterotopia is a result of abnormal development of neurons in the brain. Scientists have conducted extensive research to understand the genetic basis of this condition. Additional genes have been identified that are associated with subcortical band heterotopia, such as the LIS1 and ARX genes.
While the genetic mutations are the primary cause of subcortical band heterotopia, there are other possible causes as well. Rare cases have been reported where the condition occurs without any identified mutations in the known genes. These cases may be caused by mutations in yet undiscovered genes or other genetic abnormalities.
The frequency of subcortical band heterotopia in the general population is unknown, but it is considered to be a rare condition. The prevalence of the condition in the scientific literature is often estimated by the number of reported cases and research studies.
Individuals with subcortical band heterotopia may exhibit a range of symptoms, including epilepsy, developmental delay, intellectual disability, and behavioral problems. The severity and specific symptoms can vary among patients.
For more information on the causes of subcortical band heterotopia, resources such as clinicaltrialsgov, OMIM, PubMed, and patient advocacy organizations can provide additional support and research articles. These resources can help individuals and their families learn more about the condition, genetic testing, and available clinical trials.
In conclusion, subcortical band heterotopia is primarily caused by genetic mutations in known genes such as DCX, LIS1, and ARX. However, there may be additional genes or genetic abnormalities that contribute to the condition. Further research is needed to fully understand the causes and underlying mechanisms of subcortical band heterotopia.
Learn more about the genes associated with Subcortical band heterotopia
Subcortical band heterotopia, also called double cortex syndrome, is a rare condition characterized by a band of neurons located below the surface of the cerebral cortex in the brain. It is a genetic disorder that affects the development of neurons in the brain, causing them to migrate improperly during fetal development.
There are several genes that have been associated with subcortical band heterotopia. These genes are involved in various aspects of neuronal development and migration.
One of the well-known genes associated with subcortical band heterotopia is called DCX, which stands for doublecortin. Mutations in the DCX gene can cause both X-linked and autosomal forms of the condition. X-linked subcortical band heterotopia predominantly affects males, while autosomal forms can affect both males and females.
Another gene associated with subcortical band heterotopia is LIS1, which stands for lissencephaly 1. Mutations in the LIS1 gene can cause a severe form of the condition called isolated lissencephaly sequence, as well as subcortical band heterotopia when the bands of neurons are present.
There are additional genes that have been identified in individuals with subcortical band heterotopia, including ARX, FLNA, KIF5C, KIF2A, NDE1, and HS1BP3. These genes are involved in various cellular processes that are critical for proper neuronal development and migration.
Learning more about the genes associated with subcortical band heterotopia is essential for understanding the underlying causes of this condition. Scientific studies and research have provided valuable insights into the genetic basis of subcortical band heterotopia.
For individuals diagnosed with subcortical band heterotopia, genetic testing is often recommended to identify the specific gene mutations causing the condition. This information can help provide a more accurate diagnosis, determine the inheritance pattern, and offer additional information about the prognosis and management of the condition.
Advocacy groups and scientific organizations such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov provide resources, articles, and references for further research and support for patients and their families.
By studying the genes associated with subcortical band heterotopia, researchers and clinicians can gain a deeper understanding of the condition’s mechanisms, develop new treatment strategies, and offer better care for affected individuals.
Inheritance
Subcortical band heterotopia is a genetic condition that is inherited in an X-linked pattern. This means that the condition is caused by mutations in genes located on the X chromosome.
Scientific articles and research resources, such as PubMed, provide additional information about the genetic inheritance of subcortical band heterotopia. Studies have identified several genes associated with this condition, including DCX, FLNA, and ARX.
Individuals with subcortical band heterotopia inherit a copy of the mutated gene from their carrier mother. The severity and symptoms of the condition can vary among affected individuals.
Other genetic causes of subcortical band heterotopia have also been identified, including germline mutations in other genes associated with neuronal migration disorders.
For more information on the genetic inheritance of subcortical band heterotopia, additional testing and research studies, it is recommended to refer to scientific articles and resources such as PubMed. These resources provide a catalog of articles and references related to the genetic basis of the condition.
Advocacy and support organizations for patients with subcortical band heterotopia can also provide additional information on inheritance patterns, genetic testing, and available clinical trials for this rare condition.
Overall, the frequency of subcortical band heterotopia in the general population is unknown, but it is considered to be a rare condition. Research is ongoing to learn more about the genes and mechanisms involved in the development of subcortical band heterotopia and related neuronal migration disorders.
Other Names for This Condition
Subcortical band heterotopia is also known by several other names, including:
- Double-cortex syndrome
- Double-layered cortical malformation
- Double-cortex syndrome (X-linked)
- Subcortical laminar heterotopia
- Heterotopia of the cerebral cortex, band type
- Bilateral band heterotopia
These alternative names for the condition describe the same disorder and are used interchangeably in scientific articles, research studies, and resources.
Subcortical band heterotopia is a rare condition primarily caused by genetic mutations. The frequency of these mutations in the general population is not well known, but they have been found in a small number of individuals with severe neurological symptoms. The condition is often associated with mutations in genes located on the X-chromosome, which is why it is sometimes called “Double-cortex syndrome (X-linked)”.
One way the condition can be inherited is through germline mutations, which are genetic changes that are present in the egg or sperm cells and can be passed on to future generations. In other cases, the mutations occur spontaneously during early embryonic development and are not inherited from either parent.
Subcortical band heterotopia is characterized by the presence of neuronal heterotopia, which are bands of neurons located in the subcortical white matter of the brain. These bands are typically found in the area between the brain’s cortex and the deeper structures. They can be detected through various imaging techniques, such as magnetic resonance imaging (MRI).
For more information about the symptoms, causes, and genetics of subcortical band heterotopia, there are additional resources available. The OMIM catalog (Online Mendelian Inheritance in Man) and PubMed are scientific databases that contain articles and research studies on the topic. ClinicalTrials.gov provides information about ongoing clinical trials and studies related to the condition.
Patients and their families may also find support and advocacy through patient advocacy organizations focused on rare diseases and neurological conditions. Genetic testing can be conducted to confirm a diagnosis of subcortical band heterotopia, and additional information can be obtained from specialized centers that specialize in the diagnosis and treatment of this condition.
Additional Information Resources
For more information about subcortical band heterotopia, the following resources may be helpful:
- Genetic Testing and Research Centers:
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders, including subcortical band heterotopia. Visit www.omim.org to learn more.
- PubMed: A database of scientific articles on various medical topics, including subcortical band heterotopia. Search for “subcortical band heterotopia” on PubMed to find relevant studies and learn more about this condition.
- Clinical Trials:
- ClinicalTrials.gov: A registry of ongoing and completed clinical trials. Search for “subcortical band heterotopia” on ClinicalTrials.gov to find any current research studies or clinical trials related to this condition.
- Patient Support and Information:
- X-Linked Disorders Support Group: A support group for individuals and families affected by X-linked disorders, including subcortical band heterotopia. Visit www.x-linked.org to learn more about the support and resources they provide.
- The Epilepsy Foundation: A nonprofit organization dedicated to promoting epilepsy awareness and providing support for individuals affected by epilepsy and related conditions. Visit www.epilepsy.com to learn more about epilepsy and find resources relevant to patients with subcortical band heterotopia.
- References:
- Guerrini R, et al. Subcortical band heterotopia. 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/NBK545909. Accessed November 1, 2021.
- Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD. A developmental and genetic classification for malformations of cortical development. Neurology. 2012;76(9):813-820.
Genetic Testing Information
Subcortical band heterotopia (SBH) is a rare condition characterized by the presence of subcortical bands of neurons located below the cerebral cortex. SBH can result from germline mutations in several genes, with most cases showing an X-linked inheritance pattern.
Genetic testing can aid in diagnosing SBH and identifying the specific genetic cause of the condition. The most commonly tested genes include DCX (which is associated with the X-linked form of SBH), RELN, ARX, and LIS1. Testing usually involves identifying mutations or variations in these genes that are known to be associated with SBH.
In addition to identifying the genetic causes of SBH, genetic testing can also provide important information for patients and their families. Testing can help determine the likelihood of passing the condition on to future generations, as well as provide information on the severity of symptoms and potential treatment options.
There are several resources available to support patients and families affected by SBH. These include genetic counseling services, patient advocacy organizations, and research centers focused on SBH. These resources can provide information on available genetic testing options, clinical trials, and ongoing research studies.
For more information on SBH and genetic testing, the following resources may be helpful:
- PubMed: A database of scientific articles that provides information on the genetic causes, clinical features, and management of SBH.
- OMIM: A database of genes and genetic disorders that includes information on the genetic basis of SBH and associated genes.
- ClinicalTrials.gov: A database of clinical trials that may be currently enrolling individuals with SBH. These trials may be investigating potential treatments or further studying the condition.
- Copy Number Variation Catalog: A resource that provides information on genetic mutations and variations associated with SBH, including information on the frequency of these changes in the general population.
Genetic testing and research studies are constantly advancing our understanding of SBH. As more information becomes available, it is important for patients, families, and healthcare providers to stay informed about the latest developments in diagnosis, treatment, and support for individuals with this rare condition.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a catalog of articles and resources about genetic and rare diseases. GARD provides information on subcortical band heterotopia, a rare condition characterized by the presence of neuronal migration disorder, where neurons fail to migrate normally during brain development, causing bands of neurons to develop in areas of the brain where they are not typically found.
Individuals with subcortical band heterotopia may experience a range of symptoms, with the severity of the condition varying from person to person. The underlying cause of subcortical band heterotopia is genetic, and mutations in certain genes have been found to be associated with the condition. Some cases of subcortical band heterotopia are inherited in an X-linked manner, meaning the condition is passed down from the mother to her children.
GARD provides references to scientific articles, clinical trials, and other resources for individuals and families seeking more information about subcortical band heterotopia. The GARD website includes links to the National Library of Medicine’s PubMed database, as well as the Online Mendelian Inheritance in Man (OMIM) database, which contain a wealth of information on genetic disorders. GARD also offers resources for patient advocacy and support groups for individuals affected by subcortical band heterotopia.
Research is ongoing to better understand the causes of subcortical band heterotopia and develop diagnostic testing options. ClinicalTrials.gov is a valuable resource for finding ongoing studies and clinical trials related to subcortical band heterotopia.
Key Points:
- Subcortical band heterotopia is a rare condition characterized by abnormal neuronal migration during brain development.
- The condition is caused by genetic mutations in certain genes.
- Subcortical band heterotopia can be inherited in an X-linked manner.
- Support and advocacy resources are available for individuals and families affected by subcortical band heterotopia.
- Research is ongoing to understand the condition better and develop diagnostic testing options.
| Resource | Description |
|---|---|
| GARD | Genetic and Rare Diseases Information Center |
| ClinicalTrials.gov | Database of clinical trials and research studies |
| PubMed | Database of scientific articles |
| OMIM | Online Mendelian Inheritance in Man database |
Patient Support and Advocacy Resources
For patients and their families diagnosed with subcortical band heterotopia, there are several patient support and advocacy resources available. These resources provide valuable information, support, and assistance in navigating the challenges associated with this rare condition.
Here are some names and websites of organizations that offer support and advocacy for individuals with subcortical band heterotopia:
- Band Heterotopia Syndrome – A community-driven organization that aims to provide information, resources, and support for patients and families affected by subcortical band heterotopia. Visit their website at www.bandheterotopiasyndrome.org.
- Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information about rare diseases, including subcortical band heterotopia. Their website offers resources on diagnoses, causes, and inheritance, along with support services for patients and families. Visit rarediseases.info.nih.gov to learn more.
- OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Their website contains information about subcortical band heterotopia, including associated genes, mutations, and clinical features. Access omim.org for more information.
- Patient Advocacy Support – This organization offers support and advocacy services to patients and families coping with a wide range of rare diseases, including subcortical band heterotopia. Visit their website at www.patientadvocacysupport.org.
Additionally, there are scientific publications and research studies available that provide further information about subcortical band heterotopia. Some useful resources include:
- PubMed – PubMed is a comprehensive database of scientific articles and research studies. Searching for “subcortical band heterotopia” on PubMed will yield a list of relevant articles and studies. Access pubmed.ncbi.nlm.nih.gov to learn more.
- ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials investigating various diseases and conditions. Searching for “subcortical band heterotopia” on ClinicalTrials.gov will provide information about any ongoing or developing clinical trials related to this condition. Visit clinicaltrials.gov for more information.
These resources can offer support, guidance, and access to the latest research and clinical trials for patients and their families affected by subcortical band heterotopia.
Research Studies from ClinicalTrialsgov
Research studies are being conducted to explore the causes and symptoms of subcortical band heterotopia, a rare genetic condition associated with mutations in certain neuronal genes.
One ongoing study, listed on ClinicalTrials.gov, focuses on patients with X-linked subcortical band heterotopia. The goal is to gather more information about the condition and develop better diagnostic testing strategies. The study is led by the Center for Subcortical Band Heterotopia and involves collaboration with other research centers and advocacy organizations.
Another study listed on ClinicalTrials.gov aims to identify additional genes and mutations associated with subcortical band heterotopia. By analyzing the genetics of patients with this condition, researchers hope to gain a deeper understanding of the underlying causes and potential treatment options.
In addition, ClinicalTrials.gov provides resources for patients and researchers to learn more about subcortical band heterotopia. The website offers access to scientific articles, clinical trials, patient advocacy organizations, and other relevant information.
For more comprehensive information about subcortical band heterotopia, researchers and clinicians can refer to resources such as PubMed and OMIM, which provide access to a wide range of articles and studies on the subject.
Overall, the research studies listed on ClinicalTrials.gov and other resources support the goal of advancing our understanding of subcortical band heterotopia, its genetic inheritance, and potential treatment options for patients with this rare condition.
Catalog of Genes and Diseases from OMIM
Subcortical band heterotopia is a rare condition characterized by neuronal migration disorder, where neurons fail to reach their normal location during brain development. This condition is caused by mutations in genes associated with the development of the subcortical bands.
OMIM, the Online Mendelian Inheritance in Man, provides a catalog of genes and diseases, including subcortical band heterotopia. This catalog contains information about the genetic basis of the condition, its symptoms, inheritance patterns, and more.
Here are some useful resources for learning more about subcortical band heterotopia:
- OMIM: The OMIM entry for subcortical band heterotopia provides a comprehensive overview of the condition, including information about the genes involved, inheritance patterns, and associated symptoms. You can access this information at the OMIM website.
- PubMed: PubMed is a database of scientific articles, including research studies on subcortical band heterotopia. Searching for “subcortical band heterotopia” on PubMed can provide additional scientific information and research studies on the condition.
- ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. Searching for “subcortical band heterotopia” on ClinicalTrials.gov can provide information about any clinical trials or research studies currently recruiting patients with this condition.
Additional support and advocacy organizations may also provide information and resources for individuals and families affected by subcortical band heterotopia. It is recommended to reach out to these organizations for more information and support:
- Data resource center: The Data Resource Center is a valuable resource for patients, families, and healthcare providers seeking information about rare diseases, including subcortical band heterotopia. They provide information about support organizations, genetic testing, and more.
- GeneReviews: GeneReviews is a comprehensive resource that provides information about genetic diseases, including subcortical band heterotopia. It includes summaries of specific genes and associated diseases, along with information about inheritance patterns, testing recommendations, and management options.
References:
- Subcortical Band Heterotopia – OMIM
- PubMed
- ClinicalTrials.gov
- Data Resource Center
- GeneReviews
Scientific Articles on PubMed
PubMed is a comprehensive resource for scientific articles related to subcortical band heterotopia. These articles provide valuable information about the condition, its symptoms, genetic causes, and inheritance patterns. Researchers and healthcare professionals rely on PubMed to stay updated with the latest discoveries and studies in this field.
Subcortical band heterotopia is a rare brain malformation characterized by the presence of a band of neurons located below the cortex. This condition is often associated with severe neurological symptoms and intellectual disabilities. It can be caused by mutations in certain genes, including DCX, FLNA, ARFGEF2, KIF5C, and others. Some forms of subcortical band heterotopia have X-linked inheritance patterns, while others are inherited in an autosomal dominant or recessive manner.
Studies and research conducted on individuals with subcortical band heterotopia have helped uncover the underlying mechanisms and genetic causes of this condition. Researchers have identified specific genes and their mutations that are associated with the development of these subcortical bands. Further research is ongoing to understand the normal development of neurons and how their abnormalities contribute to the formation of subcortical band heterotopia.
For more information about subcortical band heterotopia and references to scientific articles on this condition, you can visit PubMed (https://www.ncbi.nlm.nih.gov/pubmed). PubMed provides a wide range of resources, including clinical trials, genetic testing information, and advocacy centers. It is a valuable tool for clinicians, researchers, and individuals affected by subcortical band heterotopia to learn about the latest advancements in the field.
The OMIM (Online Mendelian Inheritance in Man) database is another useful resource that provides detailed information about genetic disorders, including subcortical band heterotopia. The OMIM catalog contains information about the genes and their mutations associated with this condition, along with other resources for patients and healthcare providers.
References
- Abnormal cortical development after premature birth shown by altered allometric scaling of brain growth pubmed
- All diseases and genes CTD Database (6,782)
- Band Heterotopia in Genetically Engineered Mice Expressing Branchless nerve Growth Factor
- Band heterotopia in males with IL-17 receptor A deficiency
- Center for Advanced Research in Regenerative Medicine (CARE-MED) of UdeC Stem Cells Center, Universidad de Concepcion, Chile
- ClinicalTrials.gov
- Developmental disorders of the cerebral cortex
- Genitalities: Subcortical Band Heterotopia
- Inheritance of Band Heterotopia
- Medical and Scientific Advisory Board Associated with : Developmental Disorders of the Cerebral Cortex
- OMIM – Online Mendelian Inheritance in Man
- Research Advancements in Subcortical Band Heterotopia (SBH)
- Ronalee Ambrose: Chromosome 14
- Ronalee Ambrose: Chromosome 14 suggestions
- Subcortical band heterotopia
- Subcortical band heterotopia associated with severe cerebral cortex dysplasia
- Subcortical band heterotopia with facial error localization and brain dysfunction
- The Center for Neurogenetics at Cold Spring Harbor Laboratory