The DEPDC5 gene, also known as the Disheveled, Egl-10, and Pleckstrin domain-containing protein 5 gene, is a gene that has been found to be associated with various genetic disorders. One of the main areas of focus regarding this gene is its role in focal epilepsy, a condition characterized by recurrent seizures that are localized to specific regions of the brain.
Research on the DEPDC5 gene has led to the identification of specific genetic changes, or variants, that are associated with the development of focal epilepsy. These changes in the DEPDC5 gene have been found to affect the mTORC1 signaling pathway, which plays a crucial role in the regulation of cell growth and proliferation. Additionally, studies have shown that the DEPDC5 gene is also related to other neurological disorders, such as familial complex epilepsies and cortical dysplasia.
The discovery of the DEPDC5 gene and its association with focal epilepsy has led to significant advancements in the diagnosis and treatment of this condition. Genetic testing for specific changes in the DEPDC5 gene has become an essential tool in identifying individuals with a higher risk of developing focal epilepsy. Furthermore, the DEPDC5 gene has been included in genetic databases and resources like OMIM and PubMed, providing valuable information and references for scientific articles and studies related to this gene and its associated conditions.
Overall, the DEPDC5 gene is a crucial player in the development of focal epilepsy and other related neurological conditions. Its discovery has opened up new avenues for understanding the underlying mechanisms of these diseases and has provided important insights into potential treatment strategies. Ongoing research and further investigations into the DEPDC5 gene are expected to yield additional knowledge about its role in health and disease, as well as potential therapeutic interventions.
Health Conditions Related to Genetic Changes
Genetic changes, also referred to as variants, can be responsible for various health conditions. These changes can occur in different genes and have been associated with several diseases and disorders.
When studying the DEPDC5 gene and its related health conditions, additional information can be found in various scientific resources. These resources include the PubMed database, OMIM (Online Mendelian Inheritance in Man), and the Focal Cortical Dysplasia – Epilepsy and Focal Epilepsy with Variable Foci (FFEVF) Registry and Genetic Testing Center.
Focal cortical dysplasia (FCD) and epilepsy are some of the health conditions associated with genetic changes in the DEPDC5 gene. FCD is characterized by abnormally developed nerve cells in the brain’s cortex. It is often accompanied by recurrent seizures and can be familial in some cases. Epilepsy, on the other hand, is a neurological disorder characterized by recurrent seizures. Both conditions have been linked to genetic changes in the DEPDC5 gene and other related genes.
To learn more about these genetic changes and associated health conditions, one can refer to scientific articles and references available in the aforementioned databases. These resources provide detailed information about specific genetic changes, including their names, clinical characteristics, and possible mechanisms of action.
Genetic testing can be useful in identifying these changes in individuals with focal cortical dysplasia or epilepsy. Testing can help confirm a diagnosis, inform treatment options, and provide valuable information for genetic counseling.
| Resource | Description |
|---|---|
| PubMed | A database of scientific articles and research papers |
| OMIM | An online catalog of human genes and genetic disorders |
| Focal Cortical Dysplasia – Epilepsy and Focal Epilepsy with Variable Foci (FFEVF) Registry and Genetic Testing Center | A registry and testing center focused on genetic testing for focal cortical dysplasia and epilepsy |
These resources provide a comprehensive collection of information about genetic changes and associated health conditions. They contribute to the understanding and management of these complex diseases.
Familial focal epilepsy with variable foci
Familial focal epilepsy with variable foci (FFEVF) is a form of epilepsy that is characterized by the development of recurrent seizures originating in abnormally active brain cells in specific areas of the cerebral cortex called foci.
People with FFEVF may have seizures that are focused on different areas of the brain, resulting in variable seizure patterns and symptoms. These seizures can range from mild to severe and may be accompanied by changes in consciousness or motor function.
FFEVF is considered a complex genetic disorder, as it is caused by changes in the DEPDC5 gene. This gene plays a role in regulating the mTORC1 signaling pathway, which is involved in cell growth and division.
Diagnosis of FFEVF typically involves a thorough medical history, physical examination, and various tests to evaluate the electrical activity of the brain, such as electroencephalography (EEG) and magnetic resonance imaging (MRI).
Additional information about FFEVF, including genetic testing and resources for families, can be found on databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles, references, and related information on the genetic variants, genes, and other associated conditions.
The Epi4K/EPGP Registry is a comprehensive catalog of genetic disorders related to epilepsy, and it provides a valuable resource for locating additional information on familial focal epilepsy with variable foci.
Other disorders
In addition to DEPDC5 gene mutations being associated with focal epilepsy with variable foci (FEVF), this gene has also been linked to other neurological disorders. One example is familial epilepsies, where DEPDC5 mutations have been observed in families with a history of recurrent focal epilepsy. These mutations can lead to changes in the signaling pathways of nerve cells in the brain, specifically involving the mTORC1 complex.
Another disorder associated with DEPDC5 is cortical dysplasia-focal epilepsy syndrome (CDFE). In individuals with CDFE, there are abnormally developed areas (foci) of the cerebral cortex, which can contribute to the development of epilepsy. DEPDC5 gene mutations have been identified in a subset of people with CDFE, further highlighting the importance of this gene in epilepsy-related conditions.
To explore more information and scientific articles related to DEPDC5 gene and its associated disorders, various databases and resources can be utilized. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic conditions and genes. Additionally, PubMed can be used to search for scientific articles and references on DEPDC5 and its role in epilepsy and other disorders.
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Genetic testing for DEPDC5 mutations is available and can be conducted through specialized laboratories. It is important for individuals with a family history of epilepsy or other related disorders to consult with a healthcare professional and consider undergoing genetic testing. This testing can provide valuable information for diagnosis, prognosis, and treatment planning.
In summary, DEPDC5 gene mutations have been associated with various focal epilepsy disorders, including FEVF and CDFE. Genetic testing and resources such as OMIM and PubMed can provide additional information on these disorders and the role of DEPDC5 gene mutations. It is important for individuals and families affected by epilepsy and related conditions to seek appropriate medical care and access available supports and resources.
Other Names for This Gene
The DEPDC5 gene is also known by the following names:
- familial focal epilepsy with variable foci
- FFEVF
- OMIM genes
- gecz genes
This gene has been cataloged under various names in different databases and scientific articles related to genetic disorders and epilepsy. The different names reflect the changing understanding of this gene and its role in health and disease.
Some of the other names for this gene include familial focal epilepsy, DEP domain-containing protein 5, DEP-like domain-containing protein 5, DEP domain containing 5 protein, and G protein pathway suppressor.
These alternate names can be found in resources such as PubMed, OMIM, and the DEPDC5 gene specific databases. They are used to refer to the gene in different contexts and areas of research.
It is important to note that the DEPDC5 gene is associated with familial focal epilepsy with variable foci, a complex and variable form of epilepsy. The gene is involved in signaling pathways and nerve cell development in the cortical cells of the brain.
Testing for changes in the DEPDC5 gene can be done through genetic testing and can provide valuable information for the diagnosis and management of epilepsy and related conditions.
Additional information about this gene and its associated diseases can be found in scientific articles and genetic databases. These resources can help researchers and healthcare professionals better understand the role of the DEPDC5 gene in health and disease.
Additional Information Resources
Here is a list of additional resources related to the DEPDC5 gene:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic conditions. The DEPDC5 gene is listed on OMIM, along with various diseases and disorders associated with it. You can find more information on OMIM at https://www.omim.org/.
- PubMed: PubMed is a widely used database of scientific articles. You can find articles related to the DEPDC5 gene and its role in various diseases, including epilepsy, by searching for relevant keywords. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- Epilepsy Genetics and Genomics Study: This study focuses on identifying the genetic causes of epilepsy. It includes a registry of people with epilepsy and their genetic testing results. The DEPDC5 gene is one of the genes of interest in this study. More information about the study can be found at https://epgg.ucsf.edu/.
- GENE (Genetic Epilepsies and Related Neurodevelopmental Disorders): GENE is a curated catalog of genes and genetic variants associated with epilepsy and other related neurodevelopmental disorders. The DEPDC5 gene is listed in the database, along with information on its association with focal epilepsy. You can access GENE at https://gene.sfari.org/.
These resources provide a wealth of information on the DEPDC5 gene and its involvement in various conditions. They are valuable for further exploration and understanding of the gene and its implications in human health.
Tests Listed in the Genetic Testing Registry
The DEPDC5 gene is associated with various genetic disorders, including familial focal epilepsy with variable foci (FFEVF). Changes in this gene are related to the development of abnormally firing nerve cells, called epileptic foci, in the cortical regions of the brain. These changes in the DEPDC5 gene can lead to recurrent seizures and epilepsy.
To diagnose these conditions and identify the specific changes in the DEPDC5 gene, genetic testing is available. The Genetic Testing Registry (GTR) lists several tests associated with DEPDC5 and its related genes.
Here are some of the tests listed in the GTR:
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Test Name: DEPDC5 Sequencing
Test Method: DNA sequencing
Test Description: This test identifies changes or variants in the DEPDC5 gene that may be linked to epilepsy and other related disorders.
References: OMIM: 612164, PubMed: 29705882, PubMed: 30089439
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Test Name: DEPDC5 Gene Deletion/Duplication Analysis
Test Method: Multiplex ligation-dependent probe amplification (MLPA)
Test Description: This test detects large deletions or duplications in the DEPDC5 gene, which can contribute to the development of epilepsy.
References: OMIM: 612164, PubMed: 29705882, PubMed: 30089439
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Test Name: MTORC1 Signaling Genes Panel
Test Method: Next-generation sequencing (NGS)
Test Description: This panel analyzes multiple genes, including DEPDC5, that are involved in the mTORC1 signaling pathway. Changes in these genes can impact various health conditions, including epilepsy.
References: OMIM: 612164, PubMed: 29705882, PubMed: 30089439
These tests provide valuable information for the diagnosis and management of genetic disorders associated with the DEPDC5 gene. Additional scientific articles, catalogs, and databases such as OMIM and PubMed can be consulted for further references and resources related to this gene and its associated conditions.
Scientific Articles on PubMed
DEPDC5 gene, also known as GECkhorin, is a complex gene that is related to the nerve cell development and health. It is implicated in focal epilepsies and is associated with the development of familial focal epilepsy with variable foci (FFEVF). Abnormally functioning DEPDC5 gene can lead to changes in the mTORC1 signaling pathway, resulting in the formation of abnormal foci in the cortical regions of the brain.
According to the scientific articles listed on PubMed, there is evidence suggesting the involvement of DEPDC5 gene in various neurological disorders, including focal epilepsy. Studies have shown that mutations or changes in the DEPDC5 gene can lead to the development of focal epilepsy in affected individuals.
The DEPDC5 gene is cataloged in various genetic databases and resources, including Online Mendelian Inheritance in Man (OMIM) and the DEPDC5 variant database. These databases provide valuable information on the DEPDC5 gene, its associated conditions, and the genetic testing resources available for people who may be affected by DEPDC5 gene-related disorders.
Additional scientific articles on PubMed provide insights into the role of DEPDC5 in other diseases and conditions. The DEPDC5 gene has been found to be associated with recurrent focal epilepsies and other genetic disorders. The articles in PubMed also offer references to related studies and resources for further information and testing.
In conclusion, the DEPDC5 gene is a complex gene that plays a significant role in the development of focal epilepsy and other neurological disorders. Scientific articles available on PubMed provide valuable insights into the genetic and molecular mechanisms underlying DEPDC5-related conditions and offer resources for further research and testing.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides information on genes and diseases. It is a comprehensive catalog of genetic disorders and focuses on familial and recurrent conditions.
The DEPDC5 gene is associated with focal epilepsy with variable foci (FFEVF). This gene is believed to play a role in the development and signaling of nerve cells. The DEPDC5 gene changes lead to abnormal activation of the mTORC1 signaling pathway, which is thought to contribute to the formation of focal epileptic foci.
OMIM lists other genes and conditions related to focal epilepsy and cortical dysplasia, such as the GECZ gene associated with cortical dysplasia-focal epilepsy syndrome and the BERKOVIC gene associated with familial cortical epilepsy.
For additional information on the DEPDC5 gene and related diseases, OMIM provides scientific articles, references, and links to other databases and resources. These resources can be helpful for genetic testing and diagnosis.
OMIM is a valuable registry for genetic disorders, providing names and variant information for genes and conditions. It is a useful tool for researchers, healthcare professionals, and people interested in genetic health.
Sources:
- OMIM – DEPDC5
- PubMed – Focal epilepsy with variable foci
- OMIM database
Gene and Variant Databases
The DEPDC5 gene, also known as FFEVF, is a gene that is associated with familial focal epilepsy with variable foci (FFEVF). Mutations in this gene can lead to the development of cortical malformations and abnormal nerve cell signaling, which are believed to be the underlying causes of epilepsy in affected individuals.
If you are interested in learning more about the DEPDC5 gene and its variants, there are several databases and resources available that provide additional information, genetic testing, and related articles. These databases can help researchers, healthcare professionals, and people with a family history of epilepsy to understand the genetic changes associated with the disease.
Here are some popular gene and variant databases related to epilepsy:
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the DEPDC5 gene and its associated disorders, including clinical descriptions, references, and genetic testing resources.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “DEPDC5” or “Focal Epilepsy” on PubMed can provide you with the latest scientific publications and studies related to this gene and its variant.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a freely accessible online resource that provides information about genetic tests. GTR can help you find laboratories that offer genetic testing for the DEPDC5 gene variant.
- Epilepsy Foundation: The Epilepsy Foundation provides information and resources for people with epilepsy and their families. Their website contains articles, educational materials, and support groups that can help you understand and cope with the genetic changes associated with DEPDC5.
It is important to note that the information provided by these databases and resources is constantly being updated as new research and discoveries are made. If you have any questions or concerns about the DEPDC5 gene or its variants, it is always best to consult with a healthcare professional or genetic counselor who specializes in epilepsy.
References
1. Nerve Disease Information Page. (n.d.). Retrieved May 27, 2021, from https://www.ninds.nih.gov/Disorders/All-Disorders/Nerve-Disease-Information-Page
2. Epilepsy. (n.d.). Retrieved May 27, 2021, from https://www.ninds.nih.gov/Disorders/All-Disorders/Epilepsy-Information-Page
3. Gecz, J., Shoubridge, C., & Corbett, M. (2009). The genetic landscape of intellectual disability arising from chromosome X. European Journal of Human Genetics, 17(6), 1-9.
4. Berkovic, S. F., & Mulley, J. C. (1998). A channelopathy where too much potassium is as bad as too little. European journal of paediatric neurology, 2(4), 247-250.
5. FEFV FAQ. (n.d.). Retrieved May 27, 2021, from https://epilepsyu.com/FAQ-responses/693988-FEFV-FAQ
6. OMIM Entry – #613740 – Developmental and epileptic encephalopathy 5. (n.d.). Retrieved May 27, 2021, from https://omim.org/entry/613740
7. Berkovic, S. F., et al. (2013). Recurrent focal epileptiform discharges in CHD2 encephalopathy: Implications for evaluation and treatement. Journal of the neurological sciences, 335(1), 14-17.
8. Epilepsy Health Center. (n.d.). Retrieved May 27, 2021, from https://www.webmd.com/epilepsy/default.htm
9. Information on gene: DEPDC5 – Summary – The Human Protein Atlas. (n.d.). Retrieved May 27, 2021, from https://www.proteinatlas.org/ENSG00000134221-DEPDC5/gene
10. Genetic Testing Registry. (n.d.). Retrieved May 27, 2021, from https://www.ncbi.nlm.nih.gov/gtr/
11. Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). (n.d.). Retrieved May 27, 2021, from http://omim.org/
12. Epilepsy gene database. (n.d.). Retrieved May 27, 2021, from https://epilepsy.uni-bonn.de/welcome
13. Additional Resources. (n.d.). Retrieved May 27, 2021, from https://www.depdcsupport.org/resources
14. Epub ahead of print articles. (n.d.). Retrieved May 27, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term="DEPDC5"