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Childhood absence epilepsy is a type of idiopathic generalized epilepsy that predominantly affects children between the ages of 4 and 8. It is characterized by recurrent episodes of brief loss of awareness, also known as absence seizures. These seizures are typically accompanied by a transient lapse in motor activity and are often mistaken for daydreaming or inattentiveness. Childhood absence epilepsy is one of the most common types of epilepsy in children, with a prevalence of about 10% of all pediatric epilepsy cases.

The cause of childhood absence epilepsy is not fully understood, but it is believed to have a genetic basis. Several genes have been identified as potential causes or risk factors for the condition. The GABAA receptor subunit genes are of particular interest, as they play a crucial role in regulating the balance of excitatory and inhibitory signals in the brain. Mutations in these genes can lead to abnormal neuronal firing and the development of seizures. There is also evidence to suggest that other genes, as well as environmental factors, may contribute to the development of childhood absence epilepsy.

Childhood absence epilepsy is associated with a good prognosis, as most children outgrow the condition by adolescence. However, if left untreated, it can have a significant impact on a child’s development and quality of life. The mainstay of treatment for childhood absence epilepsy is antiepileptic medications, such as ethosuximide or valproic acid. These medications help to control seizures and minimize their impact on cognitive function. In some cases, where medication is ineffective, surgical intervention may be considered.

Frequency

Childhood absence epilepsy is a relatively rare condition, accounting for about 10% of childhood epilepsy cases. It is characterized by frequent absence seizures, which can cause a temporary loss of consciousness. Absence seizures are generally brief, lasting only a few seconds, and are often mistaken for daydreaming or inattention.

Scientific studies have been conducted to determine the frequency of childhood absence epilepsy. Testing of genes and receptors associated with GABAA receptors in neurons has provided additional information about the causes of this condition. Inheritance patterns and genetic resources like OMIM have also been helpful in understanding the genetic basis of childhood absence epilepsy.

Several resources, such as PubMed, clinicaltrialsgov, and gene catalogs, offer support for research on childhood absence epilepsy. These resources provide access to articles, studies, and patient information about the condition. Advocacy organizations have also been established to provide resources and support for families affected by childhood absence epilepsy.

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Overall, childhood absence epilepsy is a rare form of epilepsy that affects children, causing frequent absence seizures and temporary loss of consciousness. Research and genetic studies have shed light on the genes and receptors associated with this condition, providing valuable information for diagnosis and treatment.

  • Childhood absence epilepsy is a rare condition characterized by frequent absence seizures.
  • Testing of genes and receptors associated with GABAA receptors in neurons has provided additional information about the causes of childhood absence epilepsy.
  • Inheritance patterns and genetic resources like OMIM have helped researchers understand the genetic basis of childhood absence epilepsy.
  • Resources such as PubMed, clinicaltrialsgov, and gene catalogs offer support for research on childhood absence epilepsy.
  • Advocacy organizations provide resources and support for families affected by childhood absence epilepsy.

Causes

Childhood absence epilepsy (CAE) is a genetic epilepsy that typically presents between the ages of 4 and 8. It is characterized by frequent absence seizures, which are brief episodes of staring and temporary loss of consciousness.

Several genes have been associated with the inheritance of childhood absence epilepsy. Genetic studies have identified mutations in the GABAA receptor gene as the main cause of CAE. The GABAA receptor is involved in the regulation of brain activity and plays a crucial role in maintaining consciousness.

Research has also found a strong association between childhood absence epilepsy and febrile seizures, which are seizures that occur in response to a high fever. Many patients with CAE have a history of febrile seizures in early childhood.

To learn more about the genetic causes of childhood absence epilepsy, you can refer to resources such as PubMed, OMIM, and other scientific catalogs. These resources provide information about genetic testing, clinical trials, and additional studies related to the genetic causes of CAE.

In addition to genetic causes, there are other environmental factors and triggers that can contribute to the development of childhood absence epilepsy. These include certain medications, head injuries, and exposure to toxins. However, these factors are less common and are not as well understood as the genetic causes of the condition.

If you or your child has been diagnosed with childhood absence epilepsy, it is important to seek support and information from advocacy groups and resources such as the Childhood Absence Epilepsy Foundation. These organizations provide resources and support for patients and their families, including information about the condition, treatment options, and ongoing research.

Learn more about the gene associated with Childhood absence epilepsy

Childhood absence epilepsy is a neurological condition characterized by frequent and brief periods of loss of consciousness. It is one of the most common forms of epilepsy in children, often beginning between the ages of 4 and 10. While the exact cause of childhood absence epilepsy is not fully understood, research has identified several genes that are associated with this condition.

One of the genes associated with childhood absence epilepsy is the GABAA receptor gene. GABAA receptors are a type of receptor found on neurons in the brain. They play a crucial role in regulating the electrical activity of neurons and maintaining the balance between excitation and inhibition in the brain. Mutations in the GABAA receptor gene can disrupt this balance, leading to abnormal brain activity and the onset of epilepsy.

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Testing for mutations in the GABAA receptor gene and other genes associated with childhood absence epilepsy is available for individuals who have been diagnosed with this condition. This testing can help confirm the genetic cause of the epilepsy and provide additional information for patient management and treatment decisions.

For more information about the GABAA receptor gene and childhood absence epilepsy, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed scientific articles and references about the gene, its associated diseases, and the genetic inheritance patterns. ClinicalTrials.gov lists ongoing research studies and clinical trials related to childhood absence epilepsy. Advocacy organizations and support groups also offer resources and support for individuals and families affected by this condition.

Learning more about the genes associated with childhood absence epilepsy can provide valuable insights into the underlying cause of the condition and may lead to the development of targeted treatments in the future. It is important for researchers, healthcare professionals, and families affected by childhood absence epilepsy to continue supporting and participating in genetic studies and research.

Inheritance

Childhood absence epilepsy (CAE) is a genetic condition characterized by frequent and brief episodes of impaired consciousness, also known as absence seizures. These seizures typically begin in childhood and may persist into adolescence or adulthood. CAE is primarily an idiopathic generalized epilepsy syndrome, meaning that the cause is unknown in most cases. However, research has identified several genes associated with the condition.

Genetic studies have shown that mutations in the GABAA receptor genes can cause childhood absence epilepsy. These genes code for proteins that play a crucial role in regulating the excitability of neurons in the brain. Mutations in these genes can disrupt the normal function of GABAA receptors, leading to abnormal electrical activity in the brain and the occurrence of absence seizures.

In addition to mutations in GABAA receptor genes, other genetic causes of childhood absence epilepsy have been identified. These include mutations in genes involved in the production of neurotransmitters and ion channels, as well as genes that regulate the development and function of the brain.

Genetic testing can be used to identify mutations in these genes and confirm a diagnosis of childhood absence epilepsy. This information can be valuable for patients and their families, as it can help them better understand the cause of the condition and explore treatment options. Genetic testing may also be helpful in providing additional support and resources for children with CAE, as it can identify any associated genetic diseases or conditions.

There are several resources available for learning more about the inheritance and genetic causes of childhood absence epilepsy. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on specific genes associated with the condition, as well as articles and resources for further research. ClinicalTrials.gov also lists ongoing studies and clinical trials related to childhood absence epilepsy.

Advocacy organizations and support groups for epilepsy, such as the Epilepsy Foundation, may also offer resources and information on the inheritance and genetic causes of childhood absence epilepsy. These organizations can provide support and connect families with other individuals affected by the condition.

In summary, childhood absence epilepsy is a genetic condition characterized by frequent absence seizures. Genetic studies have identified mutations in several genes, including GABAA receptor genes, that can cause this condition. Genetic testing can be used to confirm a diagnosis and provide valuable information for patients and their families. Additional support and resources are available through advocacy organizations and research catalogues like OMIM and ClinicalTrials.gov.

Other Names for This Condition

Childhood absence epilepsy is also known by several other names, including:

  • Idiopathic generalized epilepsy (IGE)
  • Petit mal epilepsy
  • Pediatric absence epilepsy
  • AMAEB
  • Atypical absences associated with generalized tonic-clonic seizures (GTC)

These names reflect the different aspects and characteristics of this condition. Childhood absence epilepsy is a type of idiopathic generalized epilepsy that is primarily characterized by absence seizures. These seizures are also referred to as petit mal seizures. Childhood absence epilepsy is most commonly diagnosed in children between the ages of 4 and 8 and is associated with a genetic predisposition.

Scientific research and genetic studies have identified several genes and genetic variants that are associated with childhood absence epilepsy. Some of these genes are involved in the regulation of GABA receptors, which play a crucial role in the communication between neurons in the brain. This knowledge has provided valuable insights into the causes and mechanisms of this condition.

For more information on childhood absence epilepsy, you may find the following resources helpful:

  1. The OMIM catalog, which provides detailed information on the genetic inheritance patterns and associated genes for childhood absence epilepsy.
  2. The PubMed database, which contains scientific articles and studies on various aspects of childhood absence epilepsy.
  3. The ClinicalTrials.gov website, which lists ongoing and completed clinical trials related to childhood absence epilepsy.

In addition to these resources, there are also advocacy and support groups that provide information, testing, and resources for individuals and families affected by childhood absence epilepsy. These organizations can provide support and help individuals learn more about the condition and available treatment options.

Additional Information Resources

For additional information about childhood absence epilepsy, you can refer to the following resources:

  • Advocacy Organizations: These organizations provide support and resources for patients and families affected by childhood absence epilepsy. They advocate for research and awareness of the condition.
  • Causes and Receptors: Learn more about the causes of childhood absence epilepsy and the receptors in the brain that are involved in the condition. Several studies and research have been conducted to understand the genetic and rare causes of this epilepsy.
  • Scientific Research: Stay updated with the latest scientific research and studies on childhood absence epilepsy. These resources provide insights into the genes and inheritance patterns associated with the condition.
  • Catalog of Genes: Find more information about the specific genes that have been implicated in childhood absence epilepsy. The Online Mendelian Inheritance in Man (OMIM) catalog provides details about these genes and their associated variant names.
  • Diagnostic Testing: Explore different diagnostic tests available for childhood absence epilepsy. Genetic testing can help identify specific gene mutations or variants that may be the cause of the condition.
  • Clinical Trials: Get information about ongoing clinical trials related to childhood absence epilepsy. Participation in these trials can contribute to better understanding and development of treatment options.
  • Resources for Other Diseases: Childhood absence epilepsy is often associated with other epileptic syndromes and conditions. These resources provide information about similar diseases and their characteristics.
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For more detailed information and references, you can visit the following websites:

  1. PubMed: A comprehensive database of scientific articles and publications related to childhood absence epilepsy and other neurological conditions.
  2. ClinicalTrials.gov: This website provides information about ongoing and completed clinical trials for childhood absence epilepsy. It includes details about the purpose, eligibility criteria, and outcomes of these trials.

Genetic Testing Information

Childhood absence epilepsy is a genetic condition characterized by seizures that cause a brief loss of consciousness. This type of epilepsy is often associated with other forms of epilepsy, such as febrile seizures or generalized tonic-clonic seizures.

Genetic testing is an important tool in diagnosing childhood absence epilepsy and understanding its genetic inheritance. It involves analyzing the patient’s DNA to identify any changes or mutations in genes that may be associated with the condition. This information can help doctors determine the cause of the epilepsy and tailor treatment plans to individual patients.

Several genes have been identified in association with childhood absence epilepsy. These genes are involved in the regulation of brain activity and the function of GABA receptors in neurons. GABA receptors are responsible for inhibiting the firing of neurons, and disruptions in their function can lead to seizures.

Scientists continue to conduct research and studies to discover more genes and genetic factors related to childhood absence epilepsy. Genetic testing can provide valuable information about the specific gene mutations an individual may have and help guide treatment decisions.

Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional information and references for genetic testing and related research. These resources offer articles, clinical trials, and catalog information about the genes and their associated names in a searchable database.

Advocacy and support organizations for children with epilepsy also have resources and information about genetic testing. These organizations can help families learn more about the testing process, find appropriate testing centers, and connect with other families and researchers in the field.

In conclusion, genetic testing is a valuable tool in understanding childhood absence epilepsy and its genetic basis. By identifying specific gene mutations and understanding their impact on brain function, healthcare providers can provide personalized treatment plans for affected children.

Patient Support and Advocacy Resources

For patients and families dealing with childhood absence epilepsy, there are several patient support and advocacy resources available that can provide valuable information and support. These resources can help individuals better understand the condition, connect with others who have similar experiences, and access the latest research and treatment options. Here are some resources that you may find helpful:

  • Epilepsy Foundation – The Epilepsy Foundation offers a wealth of information about childhood absence epilepsy and other types of epilepsy. They provide resources for education, support, advocacy, and research.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information about rare diseases, including childhood absence epilepsy. They offer resources for patients and families, including information on genetics, inheritance patterns, and research updates.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes of childhood absence epilepsy and associated genes. It includes references to scientific articles, studies, and genetic testing resources.
  • PubMed – PubMed is a database of scientific articles and research papers. Searching for “childhood absence epilepsy” on PubMed can provide access to the latest studies and findings on the condition and its causes, diagnosis, and treatment.
  • ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of clinical trials. It can provide information about ongoing or upcoming research studies related to childhood absence epilepsy, including opportunities for patient participation.
  • GeneCards – GeneCards is a database that provides comprehensive information about genes, including those associated with childhood absence epilepsy. It offers information about gene function, expression patterns, and potential links to other diseases or conditions.

These patient support and advocacy resources can be valuable sources of information and support for individuals and families affected by childhood absence epilepsy. They can help individuals learn more about the condition, connect with others who have similar experiences, find resources for clinical testing and treatment options, and stay up to date with the latest research and advancements.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov have provided valuable insights into childhood absence epilepsy, a condition characterized by brief disruptions of consciousness in children. These studies have focused on various aspects of the condition, including its genetic inheritance, associated genes, and testing methods.

Genetic studies have identified several genes that may be associated with childhood absence epilepsy. These genes include GABAA receptor genes, which play a role in the communication between neurons and are involved in the regulation of consciousness. Other genes, not directly related to GABAA receptors, have also been found to contribute to the condition.

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Research articles from PubMed and other scientific resources have provided further information on the genetic factors and other causes of childhood absence epilepsy. These resources have also supported the testing and identification of genes that may cause the condition.

OMIM, a comprehensive catalog of human genes and genetic disorders, has been a valuable resource for researchers studying childhood absence epilepsy. It provides references and information on the genes associated with the condition, as well as their frequency in the population.

Research studies have also focused on febrile seizures and their association with childhood absence epilepsy. Febrile seizures are seizures that occur in children with a high fever, and they have been found to have a genetic basis. Genetic testing has shown that some genes associated with childhood absence epilepsy may also be involved in febrile seizures.

Advocacy organizations and patient support groups have played an important role in raising awareness about childhood absence epilepsy and providing resources for affected children and their families. These organizations provide information about the condition, genetic testing, and other related resources.

Overall, research studies from ClinicalTrialsgov and other sources have significantly contributed to our understanding of childhood absence epilepsy. They have helped identify genes associated with the condition, provided resources for genetic testing, and shed light on other causes and characteristics of the condition. Continued research in this field will further advance our knowledge and improve diagnosis and treatment options for children with childhood absence epilepsy.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic diseases and genes, many of which are rare. It provides comprehensive information on the clinical and genetic features of these diseases, including inheritance patterns, associated genes, and additional resources.

Childhood absence epilepsy is one of the conditions listed in OMIM. It is a type of epilepsy characterized by brief episodes of impaired consciousness, often accompanied by staring spells. The exact cause of childhood absence epilepsy is unknown, but several genes have been associated with the condition.

OMIM provides detailed information on the genetic basis of childhood absence epilepsy, including the frequency of genetic mutations in specific genes. This information can be useful for genetic testing and counseling for individuals and families affected by the condition.

OMIM also provides links to other resources, such as scientific articles and studies, patient advocacy groups, and clinical trials on childhood absence epilepsy. These resources can provide additional support and information for individuals and families affected by the condition.

Some of the genes associated with childhood absence epilepsy are GABRA1 and GABRG2, which code for GABA-A receptors in neurons. Mutations in these genes can affect the function of GABA-A receptors and contribute to the development of childhood absence epilepsy.

To learn more about childhood absence epilepsy and the genetic basis of the condition, OMIM provides references to scientific articles published in PubMed. These articles can provide more scientific research and information on the topic.

Genes Diseases
GABRA1 Childhood absence epilepsy
GABRG2 Childhood absence epilepsy

The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals and families affected by childhood absence epilepsy. It provides comprehensive and up-to-date information on the genetic basis of the condition, supporting genetic testing, research, and advocacy efforts.

Scientific Articles on PubMed

Childhood absence epilepsy is a condition characterized by frequent absence seizures that typically appear in children between the ages of 4 and 8 years. These seizures are brief (around 10 seconds), and during the seizure, the child may appear to be staring into space, unaware of their surroundings. The exact cause of childhood absence epilepsy is not fully understood, but genetic factors are believed to play a role.

Several genes have been associated with childhood absence epilepsy, including GABAA receptors and others. These genes encode proteins that control the activity of neurons in the brain. It is thought that mutations in these genes can disrupt the normal functioning of these neurons and lead to the development of childhood absence epilepsy.

Research on childhood absence epilepsy is ongoing, and many scientific articles related to this condition can be found on PubMed. PubMed is a comprehensive catalog of scientific articles and provides valuable information about the genetics, causes, and clinical characteristics of childhood absence epilepsy.

Some of the articles available on PubMed discuss the genetic basis of childhood absence epilepsy, highlighting specific genes and their potential role in the condition. Others focus on the inheritance patterns of childhood absence epilepsy and how the condition may be passed down through generations.

In addition to scientific articles, PubMed also provides access to other resources related to childhood absence epilepsy, such as clinical trials, advocacy groups, and genetic testing information. These resources can be valuable for patients and their families who are looking for more information about childhood absence epilepsy and additional support.

It is important to note that childhood absence epilepsy is a rare condition, and studies on this topic are limited. However, the scientific articles available on PubMed provide valuable insights into the condition and support ongoing research efforts.

References:

  • OMIM – Childhood Absence Epilepsy
  • PubMed – Childhood Absence Epilepsy
  • ClinicalTrials.gov – Childhood Absence Epilepsy

These resources can help individuals learn more about childhood absence epilepsy, its causes, and potential treatment options.

References

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