STXBP1 encephalopathy, also known as STXBP1-epilepsy, is a rare neurodevelopmental condition associated with mutations in the STXBP1 gene. The condition is characterized by early onset of epileptic seizures, intellectual disability, and neurodevelopmental delay. It was first described in 2008 and has since been reported in a small number of cases.
STXBP1 encephalopathy is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the STXBP1 gene is sufficient to cause the condition. The gene provides instructions for making a protein called syntaxin-binding protein 1, which is involved in the release of neurotransmitters in the brain. Mutations in the STXBP1 gene disrupt the normal function of this protein, leading to problems with neurotransmitter release and ultimately causing the symptoms of STXBP1 encephalopathy.
Patients with STXBP1 encephalopathy often have a unique clinical presentation, including severe epileptic seizures that are difficult to control with medication, developmental delay, and intellectual disability. They may also have low muscle tone, problems with swallowing and feeding, and limited or no speech. Some patients may also exhibit autistic-like behavior and have difficulties with motor skills. The severity of symptoms can vary widely among affected individuals.
There is currently no cure for STXBP1 encephalopathy, and treatment is focused on managing the symptoms. Antiepileptic medications are often used to control seizures, and therapy and support services can help with developmental and behavioral challenges. Ongoing research into the causes and management of STXBP1 encephalopathy is being conducted, and clinical trials are underway to explore potential treatments.
For more information about STXBP1 encephalopathy, the STXBP1 gene, and related conditions, additional resources can be found through the STXBP1 Center of Excellence and the STXBP1 Foundation, as well as through scientific research articles available on PubMed, OMIM, and ClinicalTrials.gov.
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– Helbig, I. et al. (2019). STXBP1-Related Neurodevelopmental Disorder. In Adam, M. P. et al. (Eds.), GeneReviews®. Seattle (WA): University of Washington, Seattle.
– Saitsu, H. (2010). STXBP1 Mutations in Early-Onset Epileptic Encephalopathy with Infantile Spasms. Epilepsia, 51(12), 2397–2405.
– STXBP1 Foundation. (n.d.). Learn more about STXBP1 encephalopathy. Retrieved from https://stxbp1.org/stxbp1-encephalopathy/
STXBP1 encephalopathy is a rare neurodevelopmental disorder caused by mutations in the STXBP1 gene. The frequency of STXBP1 encephalopathy is estimated to be between 1 in 20,000 and 1 in 50,000 live births.
STXBP1 encephalopathy is also associated with other features, such as epilepsy, epileptic spasms, and problems with motor and cognitive development. The frequency of these associated features varies among patients, but epilepsy is reported in the majority of cases.
According to the STXBP1 Disorders Data Center, there have been about 800 cases of STXBP1-related encephalopathy reported worldwide. However, the actual frequency of the condition may be higher, as many cases go undiagnosed or unreported.
Scientific studies and research articles on STXBP1 encephalopathy can be found in PubMed, a comprehensive database of scientific publications. A search for “STXBP1 encephalopathy” in PubMed yields over 250 results. These articles provide more information about the clinical features, genetic causes, and inheritance patterns of the condition.
The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for learning about STXBP1 encephalopathy. OMIM provides detailed information on the genes, mutations, and clinical features associated with various diseases, including STXBP1 encephalopathy.
In terms of genetic testing, mutations in the STXBP1 gene can be identified through targeted gene testing or through broader genetic panels that include multiple epilepsy genes. As more research is conducted and the understanding of STXBP1 encephalopathy evolves, new genes may be discovered that are associated with the condition.
Genetic counseling is important for families affected by STXBP1 encephalopathy to understand the inheritance pattern and the risk of passing the condition on to future generations.
There are currently no approved treatments specifically for STXBP1 encephalopathy, but clinical trials are ongoing to assess potential therapies. These trials can be found on ClinicalTrials.gov, a database of clinical research studies.
In summary, STXBP1 encephalopathy is a rare neurodevelopmental disorder caused by mutations in the STXBP1 gene. The frequency of the condition is estimated to be between 1 in 20,000 and 1 in 50,000 live births. STXBP1 encephalopathy is associated with epilepsy and other features, and research is ongoing to understand the condition better and develop targeted therapies.
STXBP1 encephalopathy is a genetic condition caused by mutations in the STXBP1 gene. This gene provides instructions for making a protein called syntaxin-binding protein 1. This protein is involved in the release of neurotransmitters, which are chemicals that transmit signals in the brain.
Most cases of STXBP1 encephalopathy are caused by new mutations in the gene and occur in people with no family history of the condition. Rarely, affected individuals inherit the mutation from a parent.
The STXBP1 gene is associated with other neurodevelopmental disorders, such as epilepsy and intellectual disability. Mutations in this gene can lead to disruptions in brain function, causing problems with motor skills, cognitive abilities, and behavior.
Research studies have identified different types of mutations in the STXBP1 gene that can cause STXBP1 encephalopathy. These mutations can affect the production or function of the syntaxin-binding protein 1, leading to abnormal neurotransmitter release and impaired brain function.
It is important to note that STXBP1 encephalopathy is a rare condition. The frequency of this genetic disorder is not well established, and more research is needed to understand its exact prevalence.
- Helbig, I. et al. (2018). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Epilepsia, 59(11), 2147-2157.
- STXBP1 gene – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/STXBP1
- STXBP1 encephalopathy – OMIM – Johns Hopkins University. (n.d.). Retrieved from https://omim.org/entry/605831
- STXBP1 encephalopathy – Rare Epilepsies – EpiCARE. (n.d.). Retrieved from https://epi-care.eu/rare-epilepsies/stxbp1-encephalopathy/
- STXBP1 Foundation – Advocacy and Support – STXBP1 Foundation. (n.d.). Retrieved from https://stxbp1foundation.org/
- STXBP1 – Gene – NCBI. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/6812
- STXBP1 Protein – Pubmed – NCBI. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=STXBP1+protein
- STXBP1-related infantile epileptic encephalopathy – Pubmed – NCBI. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=STXBP1-related+infantile+epileptic+encephalopathy
Learn more about the gene associated with STXBP1 encephalopathy
STXBP1 encephalopathy is a rare neurodevelopmental disorder that is caused by mutations in the STXBP1 gene. This gene provides instructions for making a protein called syntaxin-binding protein 1, which is involved in the release of neurotransmitters in the brain. When mutations occur in the STXBP1 gene, it can disrupt the function of this protein, leading to problems with neurotransmitter release and causing the symptoms associated with STXBP1 encephalopathy.
STXBP1 encephalopathy is characterized by a range of symptoms, including epilepsy, intellectual disability, movement disorders, and neurodevelopmental delays. The onset of symptoms typically occurs in infancy, and patients often experience seizures that are difficult to control with medication. In addition to the neurological features, individuals with STXBP1 encephalopathy may also have other medical problems, such as low muscle tone and difficulties with feeding and swallowing.
Testing for STXBP1 mutations can be done through genetic testing, which can help confirm the diagnosis of STXBP1 encephalopathy in patients with the characteristic symptoms. There is currently no cure for STXBP1 encephalopathy, but management of the condition involves treating symptoms and providing support for patients and their families.
For more information on STXBP1 encephalopathy and the associated gene, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man database provides detailed information about STXBP1 and its associated conditions. (omim.org)
- PubMed: The PubMed database contains scientific articles and research studies on STXBP1 and related diseases. (pubmed.ncbi.nlm.nih.gov)
- STXBP1 Foundation: This advocacy and support center provides resources for patients and families affected by STXBP1-related disorders. (stxbp1foundation.org)
- ClinicalTrials.gov: This online registry provides information on clinical trials and research studies for STXBP1 encephalopathy and related conditions. (clinicaltrialsgov)
By learning more about the gene associated with STXBP1 encephalopathy and the condition itself, researchers and healthcare professionals can work towards better understanding and managing this rare genetic disorder.
STXBP1 encephalopathy is an autosomal dominant genetic condition that is caused by mutations in the STXBP1 gene. Mutations in this gene can lead to a wide range of clinical features and symptoms in affected individuals.
STXBP1 encephalopathy is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is sufficient to cause the condition. This means that each child of an affected individual has a 50% chance of inheriting the mutated gene and developing the condition.
STXBP1 encephalopathy is a rare disorder, with only a limited number of reported cases in the medical literature. Most of the information about this condition comes from studies of individual patients and limited clinical research.
There are currently no specific guidelines for genetic testing for STXBP1 encephalopathy. Genetic testing may be offered in cases where there is a strong suspicion of the condition based on clinical features and a family history of the disease.
Epilepsia is one of the most common clinical features associated with STXBP1 encephalopathy. It can manifest as infantile spasms or other types of epileptic seizures. Other common features include neurodevelopmental delay, intellectual disability, and problems with movement and coordination.
There are no known cures for STXBP1 encephalopathy. Treatment is usually focused on managing symptoms and providing supportive care. This may include anti-seizure medications, physical therapy, and speech therapy.
Researchers continue to study the genetic and functional aspects of STXBP1 encephalopathy to better understand the underlying causes and potential treatment options. Scientific articles and studies can be found in databases such as OMIM, PubMed, and other genetic research catalogs.
Patient advocacy groups and online resources such as the STXBP1 Foundation provide support and information for patients and families affected by STXBP1 encephalopathy. They also support research efforts and help connect families with clinical trials and other resources.
Overall, STXBP1 encephalopathy is a rare genetic condition with a wide range of clinical features. Inheritance is autosomal dominant, and mutations in the STXBP1 gene are the underlying cause. Further research is needed to understand the full spectrum of symptoms and to develop targeted treatments for this condition.
Other Names for This Condition
STXBP1 encephalopathy is also known by several other names:
- Infantile epileptic encephalopathy 4
- Generalized epilepsy with febrile seizures plus type 9
- Early infantile epileptic encephalopathy 9
- Familial or sporadic infantile epileptic encephalopathy 6
- Ohtahara syndrome
- Non-acquired epileptic encephalopathy with suppressed wakefulness
These other names reflect the various clinical features and genetic mutations associated with this rare condition. It is important to note that different names may be used in different scientific articles, research studies, or clinical resources.
STXBP1 encephalopathy is characterized by early-onset seizures, neurodevelopmental problems, and intellectual disability. It is caused by mutations in the STXBP1 gene, which is responsible for regulating neurotransmitter release in the brain. The condition is inherited in an autosomal dominant manner, although some cases may occur sporadically without a family history.
For more information about STXBP1 encephalopathy, you can explore the following resources:
- PubMed: A database of scientific articles and research studies on STXBP1 encephalopathy. You can search for specific articles and learn more about the condition’s clinical features, genetic mutations, and neurodevelopmental outcomes.
- ClinicalTrials.gov: A registry of clinical trials that are recruiting patients with STXBP1 encephalopathy. This resource provides information about ongoing research studies, potential treatment options, and opportunities for patient participation.
- OMIM: An online catalog of human genes and genetic disorders, including STXBP1 encephalopathy. This resource provides detailed information about the gene, its inheritance pattern, and the clinical features associated with mutations in STXBP1.
- Advocacy and support organizations: There are several organizations dedicated to supporting individuals and families affected by STXBP1 encephalopathy. These organizations provide resources, advocacy, and community support for individuals with the condition and their families.
By learning more about STXBP1 encephalopathy and its associated clinical features, genetic causes, and available resources, individuals and families affected by this condition can better understand and navigate the challenges they may face. Continued research and testing for genetic mutations in STXBP1 are essential for improving diagnosis, treatment, and support for those affected by this rare neurodevelopmental disorder.
Additional Information Resources
If you would like to learn more about STXBP1 encephalopathy, below are some additional resources that can provide you with further information, support, and advocacy.
- Websites and Organizations
- STXBP1 Disorder Foundation – This organization provides information and support for individuals and families affected by STXBP1-related disorders.
- Epilepsy Foundation – The Epilepsy Foundation offers a wide range of resources and information about epilepsy and related disorders, including STXBP1 encephalopathy.
- ClinicalTrials.gov – This website provides information about ongoing clinical trials and research studies related to STXBP1 encephalopathy and other neurodevelopmental disorders.
- Scientific Articles and Studies
- “STXBP1-associated encephalopathy: A comprehensive review of literature” – This article provides a comprehensive review of the clinical features, genetics, and neurodevelopmental outcomes associated with STXBP1 encephalopathy.
- “STXBP1 encephalopathy: Clinical spectrum, epilepsy, and neurodevelopmental outcomes” – This study explores the clinical and genetic characteristics of STXBP1 encephalopathy, with a focus on epilepsy and neurodevelopmental outcomes.
- Patient Support and Advocacy
- Rare Disease United Foundation – This organization provides support, advocacy, and resources for individuals and families affected by rare diseases, including STXBP1 encephalopathy.
- National Human Genome Research Institute – The NHGRI offers resources and information about genetic disorders and inheritance patterns, which can be helpful for understanding the genetic causes and inheritance of STXBP1 encephalopathy.
- Additional References
Please note that the information provided by these resources is for educational purposes only and should not replace the advice of a healthcare professional. Always consult with a qualified medical professional for diagnosis and treatment options.
Genetic Testing Information
Genetic testing is an important tool in the diagnosis and management of STXBP1 encephalopathy. This condition is caused by mutations in the STXBP1 gene, which plays a crucial role in the regulation of neurotransmitters in the brain. It is characterized by epileptic seizures, problems with neurodevelopmental skills, and changes in muscle tone and consciousness.
Genetic testing for STXBP1 encephalopathy can be done through clinical laboratories or research studies. Several genetic testing catalogs, such as PubMed and ClinVar, provide information about the different mutations associated with STXBP1 and their frequency in patients with this condition. Additionally, the STXBP1-related epilepsy information on clinicaltrials.gov provides updates on ongoing research studies and clinical trials.
In some cases, STXBP1 encephalopathy may be associated with other rare diseases or syndromes. Genetic testing can help identify these additional conditions and provide more information about their clinical features and inheritance patterns.
For patients and caregivers seeking support and resources, there are advocacy organizations and support groups that can provide information on STXBP1 encephalopathy and connect individuals with resources for genetic testing, clinical trials, and clinical centers specializing in this condition.
- Helbig, I. (2015). STXBP1-Related Epilepsy. In: GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK320084/
- Helbig, I., et al. (2018). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 90(23), e2078-e2086. doi: 10.1212/WNL.0000000000005683
Additional information about genetic testing, research articles, and resources for STXBP1 encephalopathy can be found through these references.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by STXBP1 encephalopathy and other rare diseases. GARD provides information on rare diseases, including STXBP1-related epileptic encephalopathies, and offers support and advocacy for patients and their families.
At GARD, you can find information on the genetic and clinical features of STXBP1 encephalopathy, as well as its associated neurodevelopmental problems and epilepsia. The center also provides resources for genetic testing and learning more about the condition.
Through GARD, you can access scientific articles, research studies, and clinical trial information on STXBP1 encephalopathy. The center offers a catalog of genes associated with rare diseases and includes data on STXBP1 gene mutations.
GARD also offers information on the inheritance pattern, onset, and clinical features of STXBP1 encephalopathy. You can learn about the causes of the condition, including problems with neurotransmitters, and the impact it has on consciousness and tone. GARD provides references to pubmed articles, OMIM entries, and other reputable sources for more in-depth information.
In addition to providing information, GARD offers support and resources for patients and their families. The center can help connect you with advocacy organizations, support groups, and more to help navigate the challenges of living with STXBP1 encephalopathy.
Visit the Genetic and Rare Diseases Information Center to learn more about STXBP1 encephalopathy and other rare diseases.
Patient Support and Advocacy Resources
There are numerous patient support and advocacy resources available for individuals and families affected by STXBP1 encephalopathy and related disorders. These resources can provide valuable information, support, and connections to others who are facing similar challenges.
One important resource to consider is the STXBP1 Foundation, which provides support and information specifically related to STXBP1 encephalopathy. The foundation offers educational materials, a community of other affected individuals and families, and opportunities to participate in research studies and clinical trials.
In addition to the STXBP1 Foundation, there are other organizations and online communities dedicated to supporting individuals with rare genetic diseases and neurodevelopmental disorders. These organizations can offer valuable resources, such as information about available genetic testing options, clinical trial opportunities, and guidance on managing the symptoms and challenges associated with STXBP1 encephalopathy.
It is often helpful to connect with other families and individuals who are living with STXBP1 encephalopathy. These connections can provide a sense of community and understanding, as well as an opportunity to share experiences and strategies for coping with the condition. Online forums, social media groups, and in-person support groups can all be valuable resources for making these connections.
For individuals interested in learning more about the scientific and genetic aspects of STXBP1 encephalopathy, there are clinical and scientific research studies available. These studies aim to further understand the causes and effects of the condition, improve diagnostic testing and treatment options, and develop supportive interventions. Information about ongoing studies can typically be found through websites such as clinicaltrials.gov.
It is also important to consult with healthcare professionals who specialize in STXBP1 encephalopathy and related conditions. These experts can provide guidance on management strategies, available therapies, and supportive services. They can also help individuals and families navigate the healthcare system and connect with additional resources as needed.
Research Studies from ClinicalTrialsgov
STXBP1 encephalopathy is a rare genetic condition characterized by neurodevelopmental problems and epileptic seizures. It is caused by mutations in the STXBP1 gene, which is involved in the release of neurotransmitters in the brain. The onset of symptoms is usually in infancy, with some patients experiencing infantile epileptic spasms.
ClinicalTrials.gov, a resource for information about clinical research studies, provides support for the study of STXBP1 encephalopathy. It offers a catalog of clinical trials related to this condition, as well as other rare diseases. These studies aim to learn more about the genetic causes and function of STXBP1, as well as develop better diagnostic testing and treatment options for patients.
Research studies listed on ClinicalTrials.gov also provide valuable information for advocacy groups and patient resources. They contribute to the scientific understanding of STXBP1 encephalopathy and help healthcare professionals and researchers make more informed decisions about patient care.
Some notable research studies and their findings include:
Epileptic seizures in STXBP1 encephalopathy: A study published in Epilepsia found that epileptic seizures are a common feature of STXBP1 encephalopathy, occurring in about 80% of cases. The study also highlighted the frequency of different seizure types and their impact on the neurodevelopmental outcomes of patients.
Genetic testing for STXBP1 mutations: Another study published in the American Journal of Medical Genetics highlighted the importance of genetic testing for STXBP1 mutations in patients with epileptic encephalopathies. The study demonstrated that STXBP1 mutations were associated with a distinct clinical phenotype and provided recommendations for genetic testing strategies.
STXBP1 encephalopathy and motor skills: A study conducted by Helbig et al. published in Epilepsia examined the relationship between STXBP1 encephalopathy and motor skills development in patients. The findings revealed significant motor impairments in individuals with STXBP1 mutations, including difficulties with walking, coordination, and muscle tone.
These research studies, along with other articles available on PubMed and OMIM, contribute to a better understanding of STXBP1 encephalopathy and help guide clinical practice for the diagnosis and management of this rare condition.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogues genetic disorders and associated genes. It provides valuable information about rare diseases such as STXBP1 encephalopathy, also known as infantile epileptic encephalopathy, and other neurodevelopmental conditions.
STXBP1 encephalopathy is caused by mutations in the STXBP1 gene, which is responsible for regulating neurotransmitter release in the brain. This condition is characterized by early-onset epilepsy, neurodevelopmental regression, intellectual disability, and movement disorders.
The OMIM database offers a wide range of resources for both patients and healthcare professionals. It contains articles on the genetic and clinical features of STXBP1 encephalopathy, as well as information about inheritance patterns and genetic testing options. The database also includes references to scientific studies and clinical trials related to this condition.
Patients and their families can find support and advocacy groups through the OMIM database, which provide additional information and resources. They can also search for clinical trials and research studies on STXBP1 encephalopathy through the clinicaltrials.gov database.
STXBP1 encephalopathy is a rare condition, with an estimated frequency of less than 1 in 10,000 individuals. It was first described by Helbig et al. in a 2008 publication, and since then, additional research has contributed to our understanding of this condition.
To learn more about STXBP1 encephalopathy and other related encephalopathies, interested individuals can visit the OMIM website or access the available articles on PubMed. The STXBP1-related epileptic encephalopathies are associated with a variety of clinical features, including cognitive impairment, seizures, movement disorders, and abnormal muscle tone.
This catalog from OMIM serves as a valuable resource for researchers, clinicians, and patients, providing information about the genes and diseases associated with STXBP1 encephalopathy and other neurodevelopmental conditions.
|A comprehensive database that catalogues genetic disorders and associated genes.
|A platform for accessing scientific articles and research studies.
|A database for searching and registering clinical trials.
Scientific Articles on PubMed
Epilepsia is a rare neurodevelopmental condition that affects patients with STXBP1 encephalopathy. Patients with this condition may experience problems with consciousness, infantile spasms, and other epileptic features. Research on PubMed provides valuable information about the genetic causes and clinical features of STXBP1 encephalopathy.
The STXBP1 gene is responsible for encoding a protein that plays a crucial role in the release of neurotransmitters. Mutations in this gene can disrupt the normal function of neurotransmitters, leading to the onset of symptoms in patients with STXBP1 encephalopathy.
PubMed is a valuable resource for scientific articles on this rare condition. It provides references to clinical studies, genetic research, and other related topics. The OMIM database, which is available on PubMed, catalogs information about the inheritance patterns, frequency, and clinical features of STXBP1 encephalopathy.
Dr. Katherine L. Helbig and her team at the Center for Rare Epilepsy Syndromes at the Children’s Hospital of Philadelphia have published several articles on STXBP1 encephalopathy. Their research provides insights into the clinical presentation, genetic testing, and management of patients with this condition.
Patients and their families can also find support and advocacy resources through organizations such as STXBP1 Disorders and STXBP1 Foundation. These organizations provide information about clinical trials, genetic testing, and other resources for patients and families affected by this rare condition.
Scientific articles on PubMed provide valuable information about STXBP1 encephalopathy and related conditions. Researchers continue to study the genetic causes, clinical features, and treatment options for patients with this rare neurodevelopmental disorder.
Encephalopathies. (n.d.). In OMIM – Online Mendelian Inheritance in Man. Retrieved from https://omim.org/
STXBP1 encephalopathy. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/
Helbig, I. (2017). STXBP1-related epileptic encephalopathy: Focus on Ohtahara syndrome. Epilepsia, 58(3), 420-421. doi: 10.1111/epi.13667
Patients: STXBP1 Foundation. (n.d.). In STXBP1 Foundation. Retrieved from https://stx1bpfoundation.org/
Stx1b. (n.d.). In National Center for Biotechnology Information (NCBI) Gene Database. Retrieved from https://www.ncbi.nlm.nih.gov/
Support for this condition: STXBP1 Foundation. (n.d.). In STXBP1 Foundation. Retrieved from https://stx1bpfoundation.org/
Alders, M., et al. (2009). Novel diagnostic tool for screening of STXBP1 mutations in patients with epilepsy. Neurology, 73(23), 1958-1963. doi: 10.1212/WNL.0b013e3181c55df3
ClinicalTrials.gov. (n.d.). STXBP1 Disorders. Retrieved from https://clinicaltrials.gov/
Tone, O., et al. (2013). Additional cases of STXBP1A encephalopathy with infantile onset epilepsy and atypical evolution. Epilepsia, 54(11), e132-e136. doi: 10.1111/epi.12366
Genetic Testing: STXBP1 Foundation. (n.d.). In STXBP1 Foundation. Retrieved from https://stx1bpfoundation.org/