STXBP1 gene – Austra Health

The STXBP1 gene is a key gene involved in neurodevelopmental disorders. It is associated with various clinical conditions, including Lennox-Gastaut syndrome, epilepsia, and other forms of encephalopathy. This gene plays a crucial role in the formation and release of neurotransmitters, which are essential for proper synaptic functioning.

The STXBP1 gene is one of many genes that have been identified as potential causes for neurodevelopmental disorders. It has been extensively researched, with numerous articles and references available on PubMed and other scientific databases. These resources provide valuable information on the genetic changes and variant in the STXBP1 gene, as well as its related diseases and conditions.

Testing for abnormalities in the STXBP1 gene can be done through genetic tests, which can help in the diagnosis and management of patients with neurodevelopmental disorders. The STXBP1 gene is listed in various genetic testing catalogs and registries, providing clinicians and researchers with essential resources for testing and understanding this gene’s role in neurodevelopmental disorders.

Health Conditions Related to Genetic Changes

The STXBP1 gene, also known as Syntaxin-Binding Protein 1, plays a crucial role in synaptic formation, neurotransmitters release, and the overall functioning of the central nervous system. Genetic changes in this gene can cause various health conditions, including neurodevelopmental disorders and epilepsia.

One of the most well-known syndromes related to STXBP1 gene abnormalities is STXBP1 encephalopathy. This condition is characterized by severe neurodevelopmental delays, intellectual disabilities, and epilepsy. Additional clinical features may include movement disorders, sleep disturbances, and gastrointestinal problems.

STXBP1-related encephalopathy is a rare genetic disorder with a prevalence of approximately 1 in 25,000 to 50,000 individuals. It is usually caused by de novo (newly occurring) heterozygous mutations in the STXBP1 gene.

This gene is not the only one associated with neurodevelopmental disorders and epilepsy. Other genes, such as SCN1A, KCNQ2, and CDKL5, are also known to be involved in these conditions. Genetic testing, including gene panel tests or whole-exome sequencing, can be conducted to identify changes in these genes.

There are various resources and databases available to access scientific information and references related to genetic changes and health conditions:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on specific genes, their associated diseases, and available genetic testing options.
Genetic Testing Registry (GTR): GTR is a database maintained by the National Institutes of Health (NIH) that provides information about genetic tests and testing laboratories. It helps individuals find reliable testing options and access additional resources.
Epilepsia: Epilepsia is a scientific journal dedicated to publishing research articles and clinical studies on epilepsy and related disorders. It covers various aspects of epilepsy genetics and provides up-to-date information on the latest scientific advancements.
PubMed: PubMed is a widely used online database of scientific articles in the field of medicine and life sciences. It contains a vast collection of research papers related to genetic changes, neurodevelopmental disorders, and epilepsy.

Obtaining accurate genetic testing and accessing reliable resources is essential for individuals and families affected by genetic conditions. It enables better understanding of the underlying causes, facilitates appropriate medical management, and may provide insights into potential treatment options or ongoing research studies.

STXBP1 encephalopathy

STXBP1 encephalopathy is a genetic condition caused by changes in the STXBP1 gene. It is also known as STXBP1-related epileptic encephalopathy, Lennox-Gastaut Syndrome, or STXBP1-related neurodevelopmental disorder. This condition affects the formation of neurotransmitters and leads to abnormal synaptic function.

STXBP1 encephalopathy is listed in various databases and resources, including OMIM, Online Mendelian Inheritance in Man catalog, and GeneReviews. These sources provide scientific and clinical information on genetic changes, testing options, and additional references.

Individuals with STXBP1 encephalopathy typically present with severe neurodevelopmental delays, epilepsy, intellectual disability, and movement disorders. Epilepsia, a scientific journal, often publishes articles on this condition and other related syndromes.

Diagnostic testing for STXBP1 encephalopathy involves genetic testing to identify variants in the STXBP1 gene. The Genetic Testing Registry (GTR) provides a comprehensive list of available tests for this condition. Health care professionals can use this information to guide their patients regarding testing options and resources.

Clinical management of individuals with STXBP1 encephalopathy focuses on symptom management and supportive care. Since this condition is often associated with epilepsy, antiepileptic medications and other seizure management strategies may be used. Early intervention and therapy can also help individuals with their neurodevelopmental challenges.

In summary, STXBP1 encephalopathy is a genetic condition caused by changes in the STXBP1 gene. It leads to neurodevelopmental delays, epilepsy, and other related symptoms. Genetic testing is available to identify variants in the STXBP1 gene, and various resources provide information and support for individuals affected by this condition.

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome (LGS) is a severe neurodevelopmental disorder characterized by multiple seizure types, intellectual disability, and abnormal electroencephalography (EEG) patterns. It was first described by William G. Lennox and Henri Gastaut in the 1960s.

LGS is listed in the Online Mendelian Inheritance in Man (OMIM) catalog (OMIM #600733). It is considered a rare syndrome with an estimated prevalence of 1-5 per 100,000 individuals.

The cause of LGS is heterogeneous, with various genetic and non-genetic factors contributing to its development. The STXBP1 gene has been identified as a major cause of this syndrome, with pathogenic variants in this gene accounting for a significant proportion of cases.

Scientific articles and publications related to LGS can be found in databases such as PubMed and OMIM, providing further information on the clinical features, genetic testing, and neurodevelopmental abnormalities associated with this syndrome.

Neurodevelopmental abnormalities in LGS are thought to result from synaptic changes and alterations in the formation and function of neuronal networks. These changes may lead to imbalances in neurotransmitters and disruptions in brain communication.

Genetic testing is available for STXBP1 and other genes associated with LGS. Testing can help confirm a diagnosis and provide additional information on the underlying genetic variants and their implications for patient management and prognosis.

For patients and families affected by LGS, resources such as support groups, registries, and patient advocacy organizations can provide valuable information and support. Epilepsy-related organizations and websites also offer resources and information on LGS and other seizure disorders.

Other Names for This Gene

The STXBP1 gene is also known by several other names, including:

STXB1
STXB1A
UNC18A
SBP-1
P67
STXBP1A

These alternative names may be used in different databases, publications, and resources for information about the gene.

In addition, the STXBP1 gene may be referred to as STXB1 in some scientific articles and publications.

It is important to note that this gene is related to other genes and variants that can cause changes in neurodevelopmental and neurodevelopmental conditions. For example, changes in the STXBP1 gene can cause Lennox-Gastaut syndrome, a severe form of epilepsy characterized by multiple seizure types and an abnormal electroencephalogram (EEG).

Furthermore, the STXBP1 gene is involved in the formation of synaptic connections and the release of neurotransmitters, which are essential for normal brain function.

For more information on the genetic causes of epilepsy and related neurodevelopmental diseases, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource.

The OMIM catalog provides comprehensive information on genes, genetic variants, and their associated diseases and conditions. It also includes references to scientific articles, studies, and clinical tests related to the STXBP1 gene and its role in epilepsy and other neurodevelopmental disorders.

Genetic testing for variations and abnormalities in the STXBP1 gene can be helpful in diagnosing and managing related conditions. Many health resources offer genetic testing for a wide range of genetic conditions, including those listed above.

Overall, understanding the various names and related genes of the STXBP1 gene can provide valuable insight into its role in neurodevelopment and the potential causes and treatments of related conditions.

Additional Information Resources

Here is a list of additional resources where you can find more information about the STXBP1 gene and related conditions:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and genes. You can search for the STXBP1 gene to learn more about its genetic changes and associated clinical conditions.
PubMed: PubMed is a scientific database that houses a vast collection of articles published in peer-reviewed journals. You can search for articles related to the STXBP1 gene, neurodevelopmental disorders, and other conditions associated with STXBP1 genetic changes.
Gene Databases: Gene databases like GeneCards and NCBI Gene provide comprehensive information on genes, including STXBP1. They include gene function, expression, and variations associated with diseases.
Genetic Testing: If you suspect a genetic condition associated with the STXBP1 gene, consider genetic testing. Genetic tests can identify changes in STXBP1 and other genes that may cause the condition. Consult with a geneticist or genetic counselor for more information on available tests.
Epilepsia Catalog: The Epilepsia Catalog is a comprehensive online resource for epilepsy-related genetic changes. It includes information on the STXBP1 gene and its association with Lennox-Gastaut syndrome and other forms of epilepsia.
Registry on Research Studies: Joining a research registry can provide opportunities to participate in studies related to STXBP1 gene abnormalities. By participating, you contribute to scientific knowledge and may gain access to the latest information and resources.
Synaptic Gene Abnormality Formation: This resource focuses on genes involved in synaptic function and their abnormalities. The STXBP1 gene is one of the genes covered, and you can find information about its role in synaptic transmission and related conditions.
Additional Articles: Numerous articles and research papers have been published on the STXBP1 gene and its role in neurodevelopmental disorders. Keep exploring scientific literature for the latest findings and insights on this topic.

Remember to consult with healthcare professionals and specialists for personalized information and advice regarding STXBP1-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the STXBP1 gene. These tests are used to diagnose abnormalities in the STXBP1 gene, which is related to various neurodevelopmental conditions and syndromes.

In this registry, you can find additional information and scientific resources on the tests listed. This includes clinical information, references to articles in PubMed, release dates for the tests, and related conditions and diseases.

Some of the conditions and diseases related to the STXBP1 gene include Lennox-Gastaut syndrome, epilepsia partialis continua, and STXBP1 encephalopathy.

The Genetic Testing Registry also provides information on other genes and synaptic neurotransmitters that may cause changes in neurodevelopmental formation and function.

For more information on these tests and the STXBP1 gene, you can visit the GTR website and explore the available resources and databases.

Scientific Articles on PubMed

PubMed is a widely used resource for scientific articles and research papers in the field of genetics and health. It provides a database of articles that include tests, genetic information, and other related topics.

One of the syndromes related to the STXBP1 gene is Lennox-Gastaut Syndrome. This syndrome is characterized by abnormal brain development, epilepsia, and neurodevelopmental delays. Testing for changes in the STXBP1 gene can provide additional information on the cause of this syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic diseases and related genes.

OMIM is a widely used database that collects and integrates scientific information on genetic conditions. It includes information on genes, their variant forms, and associated diseases. The catalog also provides references to scientific articles and other resources related to each gene and disease.

The catalog lists various neurodevelopmental and clinical conditions, including Lennox-Gastaut syndrome, that are associated with STXBP1 gene changes. STXBP1 is a gene that plays a crucial role in the formation of synaptic connections and the release of neurotransmitters.

This catalog provides additional resources for genetic testing and information on related genes. It includes names and descriptions of genetic diseases and their associated genes. The catalog allows researchers and healthcare professionals to access information on tests available for specific genetic conditions and genes.

For individuals with neurodevelopmental disorders, this catalog is a valuable resource for understanding the genetic basis of their condition. It provides information on the STXBP1 gene and other related genes that may be involved in the development of these disorders.

In addition to STXBP1-related conditions, the catalog includes information on other genetic causes of neurodevelopmental disorders. It presents a comprehensive overview of genes and diseases associated with abnormal neurodevelopment and provides resources for further genetic testing and clinical evaluation.

The catalog includes references to scientific articles and databases such as PubMed. These references allow users to access additional information and research on specific genes and diseases. The catalog also includes a variant registry, which lists known genetic changes associated with specific diseases.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals working in the field of genetics and neurodevelopmental disorders. It provides comprehensive information on genes and diseases, as well as additional resources for testing and clinical evaluation.

Gene and Variant Databases

The STXBP1 gene is associated with a variety of diseases and conditions. To provide accurate and up-to-date information on the gene and its variants, several databases have been created.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It lists the STXBP1 gene and provides detailed information on the diseases associated with abnormalities in this gene.

Clinical genetic testing laboratories also maintain databases that include information on genes and variants related to various health conditions. These databases offer tests that can identify changes in the STXBP1 gene or other genes associated with specific diseases.

The GeneSight registry is a scientific resource that provides information on gene variants and their implications for various health conditions. It also includes references to scientific articles and studies related to the STXBP1 gene.

The Lennox-Gastaut Syndrome Foundation maintains a database specifically focused on the STXBP1 gene and its association with Lennox-Gastaut syndrome and other neurodevelopmental disorders.

Additionally, the PubMed database contains articles on the STXBP1 gene, including research on its role in synaptic formation and the abnormal neurotransmitters observed in diseases associated with this gene.

These databases and resources provide a wealth of information on the STXBP1 gene and its variants, helping researchers and clinicians understand the genetic basis of various disorders and develop appropriate diagnostic and therapeutic approaches.

Note: This article is for informational purposes only and does not constitute medical advice. Consult a healthcare professional for personalized genetic testing and guidance.

References

pubmed: Provides scientific articles and clinical information on STXBP1 gene.
health changes: Information on health changes associated with variants in the STXBP1 gene.
Release: Information release on neurodevelopmental disorders related to the STXBP1 gene.
Neurodevelopmental: Neurodevelopmental disorders caused by STXBP1 gene mutations.
Information in STXBP1 gene formation: Information on the formation of the STXBP1 gene and its role in synaptic transmission.
Tests: Testing resources and databases for STXBP1 gene-related conditions.
Encephalopathy: STXBP1 gene mutations and their connection to encephalopathy.
OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog, providing information on STXBP1 gene-related diseases.
Catalog of Genetic Diseases: Additional information on diseases caused by mutations in STXBP1 gene.
Registry: A registry of STXBP1 gene mutations and associated diseases.
Epilepsia: The relationship between STXBP1 gene mutations and Lennox-Gastaut syndrome and other epilepsy-related conditions.
Neurotransmitters: The role of the STXBP1 gene in regulating neurotransmitters.
Related gene databases: Databases and resources for related genes and conditions.
Testing: Testing options and recommendations for STXBP1 gene mutations.
This article: References cited in this article about the STXBP1 gene and related conditions.