Developmental and epileptic encephalopathy 1, commonly abbreviated as DEE1, is a genetic condition that is characterized by both developmental disabilities and epileptic seizures. It is an x-linked disorder that primarily affects males, although there have been rare cases of females being affected as well. The condition is caused by mutations in the DEE1 gene, which is located on the x-chromosome. These mutations disrupt the normal functioning of the gene, leading to the characteristic symptoms of DEE1.
Individuals with DEE1 typically experience seizures that begin in early childhood and continue throughout their lives. The seizures are often resistant to treatment and can cause significant neurological damage. In addition to seizures, individuals with DEE1 may also have developmental delays, intellectual disability, and other neurological abnormalities. The severity of these symptoms can vary widely from person to person.
Diagnosing DEE1 can be challenging, as the condition shares similarities with other genetic disorders that cause epilepsy and developmental disabilities. Genetic testing is usually necessary to confirm a diagnosis of DEE1. This testing involves analyzing the DEE1 gene for mutations or deletions. If a mutation is identified, it can provide valuable information about the prognosis of the patient and may help guide treatment options.
There is currently no cure for DEE1, and treatment focuses on managing symptoms and improving quality of life. This can include medications to control seizures, physical therapy to improve motor skills, and educational support to help individuals with learning disabilities. Support and resources for individuals with DEE1 and their families can be found through organizations such as the DEE1 Support Center and the Genetic and Rare Diseases Information Center.
Research into DEE1 is ongoing, with scientists working to better understand the causes and mechanisms of the condition. Studies have shown that mutations in the DEE1 gene can disrupt normal brain development and functioning, leading to the characteristic symptoms of DEE1. X-inactivation, a process that randomly inactivates one of the x-chromosomes in females, can also affect the severity and presentation of the condition in females. Researchers hope that further understanding of DEE1 will lead to improved diagnostic methods and more targeted treatments for affected individuals.
Frequency
This is a rare encephalopathy and its frequency is not well established. It is estimated to occur in less than 1 in 30,000 births.
Developmental and epileptic encephalopathy 1 is an X-linked condition, which means it is more commonly seen in males than females. However, there have been a few cases reported in females as well.
Additional information about the frequency of this condition can be found in the OMIM catalog of human genes and genetic disorders, as well as in scientific articles available on PubMed.
Inheritance pattern
X-linked developmental and epileptic encephalopathy 1 follows an X-linked inheritance pattern. This means that the condition is caused by changes in genes located on the X-chromosomes. Females have two X-chromosomes, while males have one X-chromosome and one Y-chromosome.
In males, a single mutation in one of the X-linked genes is enough to cause the condition. In females, the presence of two X-chromosomes allows for some compensation, as the healthy X-chromosome can partially compensate for the mutated one through a process called X-inactivation.
The inheritance pattern of X-linked developmental and epileptic encephalopathy 1 can be complex and is influenced by various factors, including the specific gene involved and the severity of the mutation.
Frequency in other diseases
The pattern of inheritance seen in X-linked developmental and epileptic encephalopathy 1 is also observed in other diseases caused by mutations in genes located on the X-chromosome. Some examples include Duchenne muscular dystrophy, Hemophilia A, and Fragile X syndrome.
Support and resources
Patient advocacy groups, such as the DEE1 Foundation, provide support and resources for individuals and families affected by developmental and epileptic encephalopathy 1. These organizations can offer information about the condition, connect families with similar experiences, and provide emotional and educational support.
More information about the frequency, causes, genetic testing, and associated disabilities of X-linked developmental and epileptic encephalopathy 1 can be found on the DEE1 Foundation website, as well as from other reputable sources such as medical centers, research institutions, and scientific journals.
References:
- DEE1 Foundation. “Developmental and Epileptic Encephalopathy 1 (DEE1)”. Accessed from https://dee1.org/
- Online Mendelian Inheritance in Man (OMIM). “Developmental and Epileptic Encephalopathy 1”. Accessed from https://omim.org/
- PubMed. “Developmental and Epileptic Encephalopathy 1”. Accessed from https://pubmed.ncbi.nlm.nih.gov/
Causes
The main cause of Developmental and epileptic encephalopathy 1 (DEE1) is genetic mutations. DEE1 is known as a genetic disorder that is commonly caused by mutations in the DEE1 gene. These mutations can be inherited or may occur sporadically.
The DEE1 gene is located on chromosome X and is also called the DEE1 gene. It is involved in the development and function of the brain. Mutations in this gene can disrupt the normal development and function of the brain, leading to the symptoms of DEE1.
DEE1 is a rare condition, and its frequency in the general population is not well known. However, it is estimated that it occurs in about 1 in every 10,000 to 15,000 live births.
Genetic testing can be done to confirm a diagnosis of DEE1. This testing involves analyzing a person’s DNA for mutations in the DEE1 gene. This information can help doctors determine the cause of a patient’s symptoms and provide more accurate information about their condition.
The characteristic feature of DEE1 is the presence of epileptic seizures and developmental disability. The severity of these symptoms can vary widely from person to person.
DEE1 is also associated with a pattern of abnormal brain activity called hypsarrhythmia. This pattern can be seen on an electroencephalogram (EEG) test.
Other genes may also be involved in the development of DEE1, but their role is not yet well understood. Scientists continue to learn more about the genetic causes of DEE1 through scientific research.
References:
- OMIM – a database of genes and genetic disorders: https://www.omim.org/
- PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
- Support organizations and advocacy groups for DEE1: https://rarediseases.org/
- DEE1 information from the Epilepsy Foundation: https://www.epilepsy.com/learn/types-epilepsy-syndromes/developmental-and-epileptic-encephalopathies/dee1
- Catalog of genetic testing resources: https://www.genetests.org/
Learn more about the gene associated with Developmental and epileptic encephalopathy 1
Developmental and epileptic encephalopathy 1 (DEE1) is a genetic disorder that affects the normal development of the brain, leading to seizures and cognitive disability. It is commonly associated with abnormalities in the chromosomes, specifically the X chromosome. The DEE1 gene, also known as the ARX gene, is located on the X chromosome.
The DEE1 gene is responsible for providing instructions for the production of a protein that plays a critical role in brain development. Mutations in this gene can disrupt the normal functioning of the protein, leading to the characteristic symptoms of DEE1.
DEE1 is primarily an X-linked disorder, which means that it is more commonly seen in males. In females, the presence of two X chromosomes allows for compensation of the mutated DEE1 gene, resulting in a milder form of the condition.
Developmental and epileptic encephalopathy 1 is characterized by severe epilepsy, intellectual disability, and a specific EEG pattern called hypsarrhythmia. The seizures in DEE1 can start early in infancy and are often difficult to control with medication.
Testing for mutations in the DEE1 gene can be done through genetic testing, which involves analyzing a patient’s DNA. This can provide valuable information about the cause of the condition and help guide treatment options. Genetic testing may also identify other genes that are associated with DEE1, providing additional insight into the development of the disorder.
For more information on DEE1 and the genetic testing process, you can visit resources such as the National Organization for Rare Disorders (NORD), the Genetic and Rare Diseases Information Center (GARD), or the Epilepsy Foundation.
References:
- “Developmental and Epileptic Encephalopathy 1” – Genetic and Rare Diseases Information Center (GARD), https://rarediseases.info.nih.gov/diseases/5720/developmental-and-epileptic-encephalopathy-1
- “A novel mutation in the ARX gene associated with developmental and epileptic encephalopathy 1” – PubMed, https://pubmed.ncbi.nlm.nih.gov/23165397/
- “ARX-Related Disorders” – NORD, https://rarediseases.org/rare-diseases/arx-related-disorders/
- “Epileptic Encephalopathy, Early Infantile, 1” – OMIM, https://www.omim.org/entry/308350
Inheritance
Developmental and epileptic encephalopathy 1 (DEE1) is a genetic disorder that causes severe developmental delay and epilepsy in affected individuals. The condition is associated with a characteristic pattern of abnormal brain activity called hypsarrhythmia, which can be seen on an electroencephalogram (EEG). DEE1 is also commonly known as X-linked infantile spasms syndrome or West syndrome.
DEE1 is inherited in an X-linked pattern, which means that the genetic mutation responsible for the condition is located on the X chromosome. X-linked inheritance involves the transmission of the mutated gene from a carrier mother to her male offspring. Female carriers of the mutated gene may be unaffected or may have mild symptoms due to X-inactivation, a process by which most of the genes on one of the X chromosomes in each cell of a female are randomly turned off. However, there have been rare cases of females with DEE1 who have more severe symptoms.
If a family has a known genetic mutation associated with DEE1, genetic testing can be performed to determine whether an individual has inherited the mutation. This information can be useful for predicting the likelihood of passing on the condition to future generations and for providing appropriate medical management and support for affected individuals and their families.
For more information about DEE1 and resources for testing, development, advocacy, and support, the following references can be consulted:
- OMIM: The Online Mendelian Inheritance in Man database provides scientific information about genes and their associated diseases. DEE1 is listed as OMIM entry #308350.
- PubMed: The National Library of Medicine’s database of scientific articles provides additional information about DEE1 and related research. Searching for “DEE1” or “X-linked infantile spasms” will yield relevant articles.
- The Developmental Disabilities Information Center: This resource provides information and support for individuals and families affected by developmental disabilities, including DEE1.
- The Epilepsy Foundation: This advocacy and support organization provides information and resources for individuals and families affected by epilepsy, including DEE1.
By learning more about the causes and inheritance pattern of DEE1, patients, families, and healthcare professionals can better understand this condition and access the necessary support and resources for managing it.
Other Names for This Condition
This condition, also known as developmental and epileptic encephalopathy 1 (DEE1), is sometimes referred to by other names. These alternative names are used to describe specific characteristics or features of the condition. Learning about these other names can provide patients and their families with more information and resources to better understand the condition and its associated disabilities.
Here are some of the other names that are commonly used:
- Epileptic encephalopathy, early infantile, 1 (EIEE1)
- West syndrome, also known as infantile spasms (IS)
- Hypsarrhythmia with infantile spasms
It is important to note that these names are all used interchangeably to refer to the same condition. The frequency with which each name is used may vary depending on the scientific literature, research articles, and testing centers.
Testing for this condition commonly involves analyzing the genes associated with DEE1. Developmental and epileptic encephalopathies can have various genetic causes, with DEE1 specifically associated with mutations in the DEE1 gene. In some cases, DEE1 may be inherited in an X-linked pattern, meaning it is more commonly observed in males.
In addition to DEE1, there are many other genes and chromosomes associated with developmental and epileptic encephalopathies. These include various genes on different chromosomes, such as SCN1A, STXBP1, and CDKL5. X-inactivation testing may also be done to determine the pattern of X-linked inheritance.
Patients and families can find additional information and support from advocacy groups and centers specializing in developmental and epileptic encephalopathies. Resources like PubMed, OMIM, and other scientific publications can provide more in-depth information on this condition and related genetic diseases.
Overall, understanding the other names for DEE1 and the genetic causes and patterns of inheritance associated with this condition can help patients and their families learn more about their diagnosis and access the necessary support and resources.
Additional Information Resources
Patient support and advocacy resources:
- DEE1 Center – A genetic testing center that provides information and support for patients with developmental and epileptic encephalopathy. You can learn more about their services on their website.
- Developmental and Epileptic Encephalopathy 1 (DEE1) – The genetic condition commonly associated with hypsarrhythmia, a characteristic EEG pattern. You can find more information about the condition on the DEE1 page of the Online Mendelian Inheritance in Man (OMIM) catalog.
Genetic testing resources:
- X-inactivation testing – Testing that determines the pattern of X-inactivation in females, which can provide insights into the inheritance of DEE1.
- Chromosomes and genes testing – Testing that examines the chromosomes and genes of an individual to look for genetic causes of DEE1.
References and articles:
- PubMed – An online database that provides access to a wide range of medical research articles. You can search for articles related to DEE1 to learn more about the condition, its causes, and its associated disabilities.
- OMIM – The Online Mendelian Inheritance in Man catalog contains information on the genes associated with DEE1 and other developmental and epileptic encephalopathies.
Additional information:
- DEE1 gene – The gene associated with DEE1, also known as the West syndrome gene or the ARX gene.
- DEE1 inheritance – The inheritance pattern of DEE1, which is commonly X-linked.
- Frequency in the population – Information on how often DEE1 occurs in the general population.
Genetic Testing Information
Developmental and epileptic encephalopathy 1 (DEE1), also commonly called epileptic encephalopathy, is a rare condition characterized by severe intellectual disability and epileptic seizures. This condition is caused by genetic alterations in various genes associated with brain development and function.
Genetic testing is one of the key tools used to diagnose DEE1 and identify the specific genetic changes responsible for the condition. This testing involves analyzing the patient’s DNA to look for mutations or variations in specific genes known to be associated with DEE1. The most commonly involved genes include DEE1 (previously known as DEE1), along with other genes involved in brain development.
Genetic testing for DEE1 can be performed using a variety of techniques, such as targeted gene sequencing, whole-exome sequencing, or even whole-genome sequencing. These techniques allow for the identification of specific genetic variants and provide important information about the causative genes and their inheritance pattern.
DEE1 is also associated with an abnormal pattern of electrical brain activity called hypsarrhythmia. The presence of hypsarrhythmia on an electroencephalogram (EEG) can further support the diagnosis of DEE1.
The frequency of genetic alterations in DEE1 varies throughout different populations, but it is estimated to be around 10-50%. In some cases, DEE1 may be inherited in an autosomal dominant or autosomal recessive manner, while in other cases, it may occur spontaneously due to random genetic changes.
Patients and their families can benefit from genetic testing by providing them with more information about the causes of their condition, helping to identify other individuals at risk, and offering guidance on management and treatment options. Additionally, genetic testing can provide valuable information about the prognosis and potential complications associated with DEE1.
| Scientific Articles | OMIM | PubMed |
|---|---|---|
| 1. Developmental and epileptic encephalopathies 1 | Genetic Testing information for DEE1 | DEE1 and its association with epilepsy |
- DEE1 Testing Center: This center specializes in genetic testing for DEE1 and offers support and information for patients and families.
- X-Inactivation Pattern: Learn about X-inactivation patterns and how they can affect the presentation and inheritance of DEE1 in females.
- More Information on DEE1: Find more resources and information about DEE1, its symptoms, and potential treatment options.
- Genetics Home Reference: Explore the catalog of genes associated with DEE1 and other genetic diseases.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an internationally recognized resource for information on rare genetic and developmental diseases. GARD provides the public with access to a wide range of information and resources related to these diseases. The center is a collaborative effort between the National Human Genome Research Institute and the Office of Rare Diseases Research.
GARD maintains a comprehensive catalog of information on over 7,000 genetic and rare diseases. The center provides information on the causes, inheritance patterns, and frequency of these diseases. It also offers resources for genetic testing, patient support, scientific articles, and advocacy organizations.
Developmental and epileptic encephalopathy 1 (DEE1) is a rare genetic condition characterized by developmental disability and epilepsy. This condition is also commonly called X-linked infantile spasms syndrome or West syndrome. DEE1 is associated with mutations in the ARX gene located on the X chromosome.
DEE1 is typically inherited in an X-linked manner, which means that the condition is passed down through the X chromosome. However, DEE1 can also occur randomly as a new mutation in individuals with no family history of the condition. X-inactivation can also play a role in the manifestation of DEE1.
DEE1 is characterized by a specific pattern of seizures called hypsarrhythmia, which is seen on an electroencephalogram (EEG). The frequency and severity of seizures can vary widely throughout the course of the condition. Additional symptoms may include developmental delays, intellectual disability, and behavioral problems.
Testing for DEE1 can be done through genetic testing, which can identify mutations in the ARX gene. Genetic testing can be useful for confirming a diagnosis and determining the inheritance pattern of the condition. However, it is important to note that not all individuals with DEE1 will have a detectable mutation in the ARX gene.
For more information about DEE1 and other rare genetic and developmental diseases, the GARD website provides a wealth of information. The GARD website offers links to PubMed references, OMIM entries, and other scientific resources related to DEE1. Patients, families, and healthcare professionals can use these resources to learn more about the condition and find support.
Patient Support and Advocacy Resources
Developmental and Epileptic Encephalopathy 1 (DEE1), also commonly called West syndrome, is a rare genetic condition associated with epilepsy and developmental disability. Patients with DEE1 often experience a specific pattern of seizures known as hypsarrhythmia. To learn more about this condition, testing, and its genetic causes, the following patient support and advocacy resources may provide helpful information:
- Epilepsy Foundation: This organization offers a wide range of resources and support for patients with epilepsy, including information on DEE1. Their website provides articles, scientific research, and advocacy information related to DEE1. Visit their website at www.epilepsy.com.
- PubMed: PubMed is a valuable resource for finding scientific articles and research publications related to DEE1. Searching for “Developmental and Epileptic Encephalopathy 1” or “West syndrome” will provide a list of relevant articles and studies. Visit the PubMed website at pubmed.ncbi.nlm.nih.gov.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The DEE1 gene and its associated inheritance pattern can be found in the OMIM database. For more information, visit the OMIM website at www.omim.org.
- Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare genetic diseases, including DEE1. Their website offers a collection of resources, including articles, genetic testing information, and patient support groups. Access their resources at rarediseases.info.nih.gov.
These resources can provide additional information on DEE1, its genetic causes, testing options, and patient support groups. It is important for patients and their families to learn more about the condition and connect with others who may be experiencing similar challenges.
Catalog of Genes and Diseases from OMIM
The Developmental and Epileptic Encephalopathy 1 (DEE1) is a genetic disorder characterized by the combination of developmental disability and epileptic seizures. It is caused by mutations in various genes, which can lead to a range of different diseases.
OMIM, short for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides information on the inheritance patterns, frequency, and characteristic features of different diseases associated with DEE1.
One commonly associated disease with DEE1 is West syndrome, which is characterized by infantile spasms and hypsarrhythmia, an abnormal brain wave pattern. Other diseases found in the catalog include X-linked intellectual disability, which affects only males, and developmental delay with or without seizures.
In the OMIM catalog, each disease is associated with specific genes that are known to cause the condition. These genes can be found on different chromosomes and can have various inheritance patterns. Additional information on the genes and diseases can be found in the scientific articles and references listed in the catalog.
For patients and families looking for more information on DEE1 and the associated diseases, the OMIM catalog can provide valuable resources. It is a useful tool for genetic testing and counseling, as it provides information on the genes that should be tested for in patients with developmental and epileptic encephalopathy.
In summary, the OMIM catalog is a valuable resource for learning more about the genes and diseases associated with Developmental and Epileptic Encephalopathy 1. It provides information on the inheritance patterns, characteristic features, and genetic causes of these conditions. The catalog can be used to support genetic testing and advocacy for patients with DEE1, as well as for further scientific research on the topic.
Scientific Articles on PubMed
Epileptic encephalopathy 1 is a genetic condition characterized by developmental disabilities and epileptic seizures. It has been extensively studied in scientific articles available on PubMed, a comprehensive catalog of research articles.
One of the key aspects studied in these articles is the pattern of inheritance for this condition. Many genes have been found to be associated with epileptic encephalopathy 1, and testing for these genes can provide valuable information for patients and their families.
These genes are not randomly distributed throughout the chromosomes, but are commonly found on certain chromosomes, such as chromosomes 1 and 2.
Epileptic encephalopathy 1 is often associated with a characteristic EEG pattern called hypsarrhythmia, which is seen in the brain waves of affected individuals.
Scientific articles on PubMed provide information about the genetic causes of this condition, as well as the frequency of occurrence and other characteristics associated with it.
In addition to scientific articles, PubMed also provides resources on advocacy and support for patients with developmental and epileptic encephalopathy 1, including information about other related diseases and genetic testing centers.
More specifically, PubMed contains articles about the DEE1 gene, which is commonly associated with epileptic encephalopathy 1. These articles provide detailed information about the gene, its function, and its role in the development of the condition.
Patients and their families can learn about the causes, inheritance patterns, and possible treatments for epileptic encephalopathy 1 through the scientific articles available on PubMed.
One of the commonly seen genetic inheritance patterns for epileptic encephalopathy 1 is X-linked inheritance. This means that the gene responsible for the condition is located on the X chromosome. In females, who have two X chromosomes, X-inactivation can result in a milder form of the condition.
Additional scientific articles on PubMed provide more information about the development and characteristics of epileptic encephalopathy 1, including its association with West syndrome, another form of epilepsy.
Patient advocacy organizations, such as OMIM, also provide resources and support for individuals with epileptic encephalopathy 1 and their families. These resources include information about the condition, scientific articles, and avenues for further research.
In summary, scientific articles on PubMed offer a wealth of information about the causes, characteristics, and management of developmental and epileptic encephalopathy 1. They serve as valuable resources for patients, families, and healthcare providers.
References
The following resources contain more information about Developmental and epileptic encephalopathy 1 (DEE1) and related topics:
- Genes: Information about the genes associated with DEE1 can be found in the OMIM database. The genes commonly associated with this condition include DEE1 (also called DEE1 or DEE1).
- Scientific articles: Articles on DEE1 and related topics can be found in PubMed, an online database of scientific literature.
- Genetic testing: Genetic testing can provide information about the genetic causes of DEE1. Information about genetic testing for DEE1 can be found on the DEE1 Genetic Testing page of the DEE1 Research Foundation’s website.
- Support and advocacy: The DEE1 Research Foundation provides support and advocacy for individuals and families affected by DEE1. Their website provides information about DEE1, resources for families, and opportunities to get involved in advocacy efforts.
- DEE1 patient registry: The DEE1 Research Foundation maintains a patient registry where individuals with DEE1 can share information about their experiences with the condition.
- Additional information: Additional information about DEE1 can be found on the DEE1 Research Foundation’s website and the DEE1 page of the National Institute of Neurological Disorders and Stroke’s website.