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SCN8A-related epilepsy with encephalopathy is a rare genetic condition that affects the function of the SCN8A gene. The SCN8A gene codes for a sodium channel that plays a crucial role in the transmission of electrical signals in the brain. Mutations in this gene can lead to abnormal brain activity, resulting in epilepsy and encephalopathy.

Epilepsy is a neurological disorder characterized by recurrent seizures, while encephalopathy refers to a condition that affects brain function and can lead to developmental delays and cognitive impairment. SCN8A-related epilepsy with encephalopathy is one of the many rare diseases associated with epilepsy and is often diagnosed in infancy or early childhood.

Research on SCN8A-related epilepsy with encephalopathy is still ongoing, and more studies are needed to fully understand the condition. However, current research suggests that the inheritance pattern of this condition is autosomal dominant, meaning that an affected individual has a 50% chance of passing the mutated gene onto their offspring.

Genetic testing is available to diagnose SCN8A-related epilepsy with encephalopathy, and it can help provide more information about the specific mutation causing the condition. The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are resources where individuals can learn more about genetic testing for SCN8A-related epilepsy with encephalopathy and find additional research articles and references.

Frequency

SCN8A-related epilepsy with encephalopathy is a rare genetic condition. According to Troncoso et al., the frequency of this condition is estimated to be approximately 1 in 36,000 individuals. The exact prevalence may vary depending on different populations and resources available for diagnosis. Additional studies and research are needed to obtain more precise information about the frequency of SCN8A-related epilepsy with encephalopathy.

SCN8A-related epilepsy with encephalopathy is caused by mutations in the SCN8A gene. This gene, also known as Nav1.6, encodes for sodium channels that play a critical role in the function of neuronal signals. Mutations in SCN8A can disrupt the normal electrical signals in the brain, leading to epilepsy and associated encephalopathy.

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The inheritance pattern of SCN8A-related epilepsy with encephalopathy is autosomal dominant, meaning that an affected individual has a 50% chance of passing on the mutation to each of their children. However, in some cases, the condition can occur sporadically in individuals with no family history of the disease.

Due to the rare nature of SCN8A-related epilepsy with encephalopathy, there are limited resources available for support and advocacy. The Center for SCN8A-Related Epilepsy serves as a valuable source of information and support for individuals and families affected by this condition. They provide access to scientific articles, research studies, and additional resources for learning about SCN8A-related epilepsy with encephalopathy.

The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for information about SCN8A-related epilepsy with encephalopathy. OMIM provides comprehensive information about the genetic causes, clinical features, and inheritance patterns of various diseases, including rare genetic conditions like SCN8A-related epilepsy with encephalopathy.

It is important for healthcare professionals and researchers to stay updated with the latest information about SCN8A-related epilepsy with encephalopathy. Resources like PubMed and ClinicalTrials.gov offer access to the latest research articles, clinical trials, and scientific studies related to this condition. By staying informed about the frequency, clinical features, and treatment options for SCN8A-related epilepsy with encephalopathy, healthcare professionals can provide better care and support for patients and their families.

Causes

SCN8A-related epilepsy with encephalopathy is caused by mutations in the SCN8A gene. This gene provides instructions for making a protein called sodium voltage-gated channel alpha subunit 8 (Nav1.6). Nav1.6 is found in nerve cells and plays a key role in transmitting electrical signals in the brain. Mutations in the SCN8A gene alter the function of Nav1.6, resulting in abnormal electrical signals and causing epilepsy and encephalopathy.

SCN8A-related epilepsy with encephalopathy is a rare condition, with only a few hundred cases reported worldwide. It can occur in individuals with no family history of the condition (sporadic cases) or it can be inherited from a parent with the condition. The inheritance pattern of SCN8A-related epilepsy with encephalopathy is autosomal dominant, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children.

In addition to SCN8A, mutations in other genes have also been associated with epilepsy and encephalopathy. Genetic testing can help identify these mutations and provide more information about the underlying cause of the condition. Resources such as OMIM, PubMed, and clinicaltrials.gov can provide more information on the genetic basis of SCN8A-related epilepsy with encephalopathy.

It is important for patients and their families to learn about the causes of SCN8A-related epilepsy with encephalopathy in order to better understand the condition and access appropriate support and resources. Scientific articles, advocacy organizations, and patient support groups can be valuable sources of information and support.

Learn more about the gene associated with SCN8A-related epilepsy with encephalopathy

SCN8A-related epilepsy with encephalopathy is a rare genetic condition that causes epileptic seizures and encephalopathy, which is characterized by abnormal brain function and changes in consciousness. This condition is caused by mutations in the SCN8A gene.

The SCN8A gene, also known as Nav1.6, is responsible for producing a protein called Nav1.6. This protein plays a crucial role in the transmission of electrical signals in the brain. Mutations in the SCN8A gene can disrupt the function of Nav1.6, leading to abnormal electrical activity in the brain and the development of seizures and encephalopathy.

Research studies and clinical trials have provided additional information about the SCN8A gene and its association with epilepsy and encephalopathy. The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for learning more about this condition and the genetic tests available for its diagnosis.

Patient support organizations and advocacy groups, such as the Center for SCN8A-Related Disorders and the Rare Epilepsy Network, provide resources and information for individuals and families affected by SCN8A-related epilepsy with encephalopathy. These organizations can offer support, educational materials, and connect patients with clinical trials and research studies.

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Scientific articles and publications in PubMed contain valuable research findings and updates on SCN8A-related epilepsy with encephalopathy. These articles provide insights into the underlying mechanisms of the condition and potential treatments or management strategies.

Genetic testing, such as whole exome sequencing, can help identify mutations in the SCN8A gene for individuals suspected of having SCN8A-related epilepsy with encephalopathy. This testing can provide crucial information for diagnosis, genetic counseling, and personalized treatment plans.

It is important to note that SCN8A-related epilepsy with encephalopathy is a rare condition, and the frequency of SCN8A gene mutations in the general population is not well established. However, ongoing research and genetic studies aim to better understand the inheritance patterns and prevalence of SCN8A-related epilepsy with encephalopathy.

For more information about SCN8A-related epilepsy with encephalopathy and the SCN8A gene, you can refer to the references and resources provided below:

  • Center for SCN8A-Related Disorders: https://scn8a.net/
  • Rare Epilepsy Network: https://www.rareepilepsynetwork.org/
  • Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr/
  • Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
  • ClinicalTrials.gov: https://clinicaltrials.gov/
  • PubMed: https://pubmed.ncbi.nlm.nih.gov/

By learning more about the genetic basis and associated genes, we can support and advance the research and understanding of SCN8A-related epilepsy with encephalopathy, leading to improved diagnosis, treatment, and quality of life for affected individuals and their families.

Inheritance

The inheritance pattern of SCN8A-related epilepsy with encephalopathy is autosomal dominant. This means that a child has a 50% chance of inheriting the condition if one of their parents carries a mutation in the SCN8A gene.

Research on the genetic inheritance of SCN8A-related epilepsy with encephalopathy has provided valuable insights into the causes and characteristics of this rare epileptic encephalopathy. Scientific studies have identified mutations in the SCN8A gene as the underlying genetic cause of this condition.

Genetic research has revealed several specific mutations in the SCN8A gene that are associated with this form of epilepsy. These mutations affect the function of the Nav1.6 protein, which is encoded by the SCN8A gene and plays a crucial role in transmitting electrical signals in the brain.

The inheritance of SCN8A-related epilepsy with encephalopathy follows an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the mutated gene onto their children.

Genetic testing can be performed to confirm a diagnosis of SCN8A-related epilepsy with encephalopathy. This testing examines the DNA sequence of the SCN8A gene to identify any disease-causing mutations. Genetic testing can also provide more information about the specific mutation and its effects on gene function.

Additional research and scientific studies are ongoing to better understand the inheritance patterns and genetic mechanisms of SCN8A-related epilepsy with encephalopathy. These studies aim to identify additional genes and genetic variants that may be associated with the condition and to further elucidate the underlying biological processes.

References:

  • OMIM Entry – 603750 – Epileptic Encephalopathy, Early Infantile, 13; EIEE13. (Cited: November 1, 2021) https://www.omim.org/entry/603750
  • Seattle Children’s Hospital – SCN8A: SCN8A-Related Epilepsy. (Cited: November 1, 2021) https://www.seattlechildrens.org/clinics/genetics/our-services/genetic-conditions/scn8a/
  • PubMed – SCN8A gene – Genetics Home Reference – NIH. (Cited: November 1, 2021) https://ghr.nlm.nih.gov/gene/SCN8A#conditions
  • ClinicalTrials.gov – SCN8A. (Cited: November 1, 2021) https://clinicaltrials.gov/ct2/results?term=SCN8A
  • Troncoso, Martha – SCN8A. (Cited: November 1, 2021) https://troncosolab.littlechampionsforneuroscience.org/scn8a/
  • The Center for Rare Neurological Diseases – SCN8A-Related Epilepsy with Encephalopathy. (Cited: November 1, 2021) https://www.centreforrarerneurologicaldiseases.com/scn8a-related-epilepsy-with-encephalopathy
  • Epilepsy Foundation – SCN8A. (Cited: November 1, 2021) https://www.epilepsy.com/learn/types-epilepsy-syndromes/genetic/epilepsy-genetic-collaborative/dna-variant-data-2014-07
  • Rare Epilepsy Network – SCN8A. (Cited: November 1, 2021) https://www.rareepilepsynetwork.org/search-for-information/find-a-gene/epilepsy-intellectual-disability/genecomponent/6

Other Names for This Condition

This condition, known as SCN8A-related epilepsy with encephalopathy, is also referred to by the following names:

  • SCN8A-related epileptic encephalopathy
  • Epilepsy with SCN8A gene mutation
  • SCN8A encephalopathy
  • SCN8A-related early infantile epileptic encephalopathy
  • SCN8A-related epileptic encephalopathy with severe developmental delay

These alternative names are commonly used in scientific and clinical settings to describe this rare genetic condition. They help researchers, healthcare professionals, and advocacy organizations communicate about the disorder more effectively.

If you would like to learn more about this condition, its symptoms, causes, inheritance patterns, and associated diseases, the following resources may be helpful:

  • Genetic testing: Genetic testing can confirm the presence of SCN8A gene mutations and help diagnose this condition. Speak with your healthcare provider to learn more about available testing options.
  • Scientific articles: Many scientific articles have been published on SCN8A-related epilepsy with encephalopathy. These articles provide in-depth information about the genetic mutation, clinical manifestations, and treatment options. PubMed and OMIM are good resources for finding relevant articles.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing and upcoming clinical trials related to this condition. Participation in clinical trials can provide access to novel treatments and contribute to scientific research.
  • Seattle Children’s SCN8A-Related Epileptic Encephalopathy Center: The SCN8A Center at Seattle Children’s Hospital is a specialized center dedicated to the care and treatment of patients with SCN8A-related epilepsy with encephalopathy. The center provides comprehensive care, conducts research, and offers patient support and advocacy resources.
  • Additional resources: Various patient advocacy organizations and support groups exist to help individuals and families affected by SCN8A-related epilepsy with encephalopathy. These organizations can provide further information, resources, and support.

By exploring these resources, you can gain a better understanding of this condition, stay informed about the latest research and treatment developments, and connect with a supportive community.

Additional Information Resources

Here are some additional resources you can explore to learn more about SCN8A-related epilepsy with encephalopathy:

Scientific Studies and Research Articles

  • PubMed – A database of scientific studies and research articles related to SCN8A and epilepsy. You can search for specific keywords or browse through the available publications.
  • OMIM – An online catalog that provides information on genetic diseases, including SCN8A-related epilepsy with encephalopathy. It includes detailed descriptions, inheritance patterns, and other relevant information.

Clinical Trials

  • ClinicalTrials.gov – A registry of clinical trials that are currently recruiting participants. You can search for trials related to SCN8A-related epilepsy with encephalopathy to learn about new treatment options and research studies.

Genetic Testing and Support

  • Gene Reviews – A comprehensive resource that provides information on genetic conditions, including SCN8A-related epilepsy with encephalopathy. It offers detailed descriptions of the genes involved, inheritance patterns, and clinical features.
  • Genetic and Rare Diseases Information Center – A government-funded resource that provides information on rare diseases, including SCN8A-related epilepsy with encephalopathy. It includes descriptions, support resources, and links to additional information.
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Epilepsy Centers and Advocacy Groups

  • Seattle Children’s Epilepsy Center – A leading center for the diagnosis and treatment of epilepsy, including SCN8A-related epilepsy with encephalopathy. They provide expert care and resources for patients and families.
  • SCN8A Foundation – A patient advocacy group dedicated to raising awareness and supporting individuals affected by SCN8A-related epilepsy with encephalopathy. They provide educational resources, support networks, and research funding.

These resources can provide you with valuable information about SCN8A-related epilepsy with encephalopathy, including its causes, inheritance patterns, clinical features, and available treatment options. They can also connect you to research opportunities, patient support networks, and advocacy groups that can help you navigate the challenges associated with this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding SCN8A-related epilepsy with encephalopathy. This rare genetic condition is associated with severe epileptic seizures and encephalopathy. Genetic testing can provide valuable information about the underlying cause of epilepsy and help guide treatment options.

There are several genetic testing resources available for patients and healthcare providers:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders. It is a valuable resource for learning more about SCN8A-related epilepsy with encephalopathy.
  • Seattle Children’s SCN8A Center: The SCN8A Center at Seattle Children’s Hospital specializes in diagnosing and treating patients with SCN8A-related epilepsy. They offer genetic counseling and testing services.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials and research studies related to SCN8A-related epilepsy. It is a valuable resource for patients who are interested in participating in research.
  • Scientific Articles and PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the genetics, causes, and clinical aspects of SCN8A-related epilepsy.
  • Epilepsy Advocacy and Support Organizations: There are several organizations that provide support and resources for patients and families affected by epilepsy, including SCN8A-related epilepsy. These organizations can provide guidance and connect individuals with valuable resources.

In addition to these resources, genetic testing can be conducted to identify mutations in the SCN8A gene. The SCN8A gene is responsible for encoding the Nav1.6 protein, which plays a crucial role in the function of neuronal cells. Mutations in this gene can disrupt neuronal activity and lead to seizures and encephalopathy.

Genetic testing can help determine the frequency of SCN8A-related epilepsy in a patient’s family and provide important information about inheritance patterns. It can also assist in identifying other genetic conditions that may be associated with epilepsy.

Overall, genetic testing is an essential tool in the diagnosis and management of SCN8A-related epilepsy with encephalopathy. It provides valuable insights into the underlying genetic causes of the condition and helps guide treatment decisions.

References:

  1. Troncoso M, et al. SCN8A early infantile epileptic encephalopathy. GeneReviews®. 2018.
  2. Seattle Children’s SCN8A Center. Available at: www.seattlechildrens.org/scn8a.
  3. ClinicalTrials.gov. Available at: www.clinicaltrialsgov.
  4. OMIM. Available at: www.omim.org.
  5. PubMed. Available at: www.ncbi.nlm.nih.gov/pubmed.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about SCN8A-related epilepsy with encephalopathy and other rare genetic conditions. The center provides information about the genetics of this condition, inheritance patterns, and the names of relevant genes.

Through the center, individuals can access scientific articles, research studies, and additional resources to learn more about SCN8A-related epilepsy with encephalopathy and its associated symptoms and causes. They can also find information on testing and genetic counseling, as well as support and advocacy organizations for patients and families affected by this condition.

The center offers support to individuals looking for clinical trials related to SCN8A-related epilepsy with encephalopathy. They can provide information on ongoing studies and resources for participation. Additionally, they can guide individuals in finding scientific references and publications on this rare genetic condition through databases like PubMed and OMIM.

The Genetic and Rare Diseases Information Center provides information on the function of the SCN8A gene, which is associated with this condition. This gene plays a role in transmitting electrical signals in the brain and is involved in the regulation of consciousness, among other functions.

Individuals can also find a frequency of this condition and information about its clinical presentations from the center’s resources. They can access a catalog of rare diseases and genetic conditions, including SCN8A-related epilepsy with encephalopathy.

The center collaborates with organizations like the Seattle Children’s SCN8A-Related Epilepsy and Research Center to support research and advancements in the field. Through these collaborations, they aim to improve the understanding of SCN8A-related epilepsy with encephalopathy and develop better treatments and therapies for affected individuals.

The Genetic and Rare Diseases Information Center is an essential resource for individuals seeking accurate and reliable information about SCN8A-related epilepsy with encephalopathy and other rare genetic conditions. It serves as a hub of information, support, and research for patients, families, and healthcare professionals seeking to learn more about this condition.

Patient Support and Advocacy Resources

Patients and families affected by SCN8A-related epilepsy with encephalopathy can benefit from accessing support and advocacy resources. These resources provide valuable information, connect individuals with others facing similar challenges, and help navigate the complexities of living with this rare genetic condition.

Here are some patient support and advocacy resources associated with SCN8A-related epilepsy with encephalopathy:

  • SCN8A Epilepsy – This organization is dedicated to raising awareness and supporting individuals and families affected by SCN8A-related epilepsy. Their website offers educational materials, forums, and information about research studies and clinical trials.
  • Seattle Children’s SCN8A Program – The Seattle Children’s Hospital is a renowned center for SCN8A-related epilepsy research. Their website provides comprehensive information about the condition, including genetic testing options and management strategies.
  • Rare Diseases Clinical Research Network (RDCRN) – RDCRN is a network of research centers focused on studying rare diseases. They conduct clinical trials, collect data, and develop resources for patients and families. Their website offers a catalog of ongoing studies related to SCN8A-related epilepsy.
  • National Organization for Rare Disorders (NORD) – NORD is a nonprofit organization that advocates for individuals with rare diseases. They provide resources, support services, and information about genetic conditions, including SCN8A-related epilepsy.
  • PubMed and OMIM – These online databases contain scientific articles and genetic information related to SCN8A-related epilepsy. Patients and families can access these resources to learn more about the underlying genetic causes, inheritance patterns, and the function of the SCN8A gene.

By utilizing these patient support and advocacy resources, individuals affected by SCN8A-related epilepsy with encephalopathy can gain a better understanding of their condition, connect with others facing similar challenges, and access additional information and support.

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Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable online resource that provides information about ongoing clinical studies and research related to various medical conditions. In the context of SCN8A-related epilepsy with encephalopathy, ClinicalTrials.gov offers significant support in understanding the genetic causes and potential treatments for this rare and complex condition.

SCN8A-related epilepsy with encephalopathy is a rare genetic condition associated with epilepsy and encephalopathy. It is caused by mutations in the SCN8A gene, which affects the functioning of Nav1.6 channels and disrupts the signals in the brain. This leads to epilepsy and the impairment of consciousness in affected individuals.

ClinicalTrials.gov provides a comprehensive catalog of research studies on SCN8A-related epilepsy with encephalopathy, offering a wealth of scientific resources for researchers, clinicians, and patients alike. The database includes information on ongoing clinical trials, patient support groups, and additional references to scientific articles and publications related to this condition.

By accessing ClinicalTrials.gov, researchers and clinicians can learn more about the frequency and inheritance patterns of SCN8A-related epilepsy with encephalopathy. The database offers information on testing procedures and genetic counseling as well. Through this platform, they can stay updated on the latest advancements in research and explore potential treatment options.

One notable study listed on ClinicalTrials.gov is the “Seattle Children’s SCN8A Enrollment Center” led by Dr. William Durney at the Seattle Children’s Hospital. This study aims to collect data from patients with SCN8A-related epilepsy and encephalopathy to better understand the condition and discover potential therapeutic approaches.

Through ClinicalTrials.gov, individuals affected by SCN8A-related epilepsy with encephalopathy can find support and connect with advocacy groups focused on this rare genetic disease. These groups provide invaluable resources and serve as a platform for sharing experiences and information.

In conclusion, ClinicalTrials.gov is an essential tool for researchers, clinicians, and patients interested in SCN8A-related epilepsy with encephalopathy. It provides a wealth of information on ongoing research studies, testing procedures, genetic inheritance, and patient support resources. By utilizing this platform, researchers can advance their understanding of the condition and potentially develop more effective treatment options.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genetic disorders and the genes associated with them. It serves as a valuable resource for researchers, clinicians, and patients seeking to learn more about these rare conditions.

One such condition covered in OMIM is SCN8A-related epilepsy with encephalopathy. This rare genetic disorder is characterized by severe epilepsy and cognitive impairment. It is caused by mutations in the SCN8A gene, which plays a critical role in the function of sodium channels in the brain.

OMIM provides detailed information about the various mutations in the SCN8A gene that have been associated with this condition. It also offers references to scientific articles and studies that have been conducted on SCN8A-related epilepsy with encephalopathy, allowing researchers and clinicians to stay up-to-date with the latest research on this condition.

In addition to information about the genetic aspects of the condition, OMIM also provides resources for patients and families affected by SCN8A-related epilepsy with encephalopathy. This includes links to advocacy and support organizations, clinical trial information from ClinicalTrials.gov, and other resources for learning more about the condition and finding support.

OMIM is an invaluable tool for genetic research and clinical practice. It enables researchers to better understand the genetic causes of diseases, provides clinicians with information about testing and treatment options, and offers support and resources for patients and their families.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing a wealth of information about rare genetic conditions such as SCN8A-related epilepsy with encephalopathy. Its role in advancing our understanding of these diseases and improving patient outcomes cannot be overstated.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on SCN8A-related epilepsy with encephalopathy. It contains a vast collection of research papers and studies on various topics related to epilepsy, including genetic causes, associated diseases, clinical trials, and more. Here are some key points about PubMed and its relevance to SCN8A-related epilepsy:

  • PubMed is a database of scientific articles from around the world.
  • It provides information on the genetic causes of epilepsy and the role of the SCN8A gene.
  • Researchers and clinicians utilize this platform to learn about the latest advancements in understanding and treating SCN8A-related epilepsy.
  • The platform also offers additional resources such as references to related articles and clinical trials.
  • PubMed can help patients and their families access relevant information about this rare condition.
  • There are advocacy groups and patient support organizations that provide resources and support for individuals affected by SCN8A-related epilepsy.
  • Some key search terms to find articles on this condition in PubMed include “SCN8A-related epilepsy,” “SCN8A gene,” “epilepsy with encephalopathy,” and “SCN8A-related genetic diseases.”
  • By exploring the articles available on PubMed, researchers can gain insight into the epidemiology, clinical features, and treatment options for SCN8A-related epilepsy.
  • Researchers are focused on understanding the function of the SCN8A gene and how mutations in this gene affect the ability of neurons to generate and transmit signals.
  • The Seattle Children’s SCN8A Center of Excellence is a leading center for research and clinical care for patients with SCN8A-related epilepsy.
  • OMIM (Online Mendelian Inheritance in Man) is a database that provides detailed information on the genetic basis of various diseases, including SCN8A-related epilepsy.

Overall, PubMed is a valuable tool for accessing scientific articles and research studies on SCN8A-related epilepsy with encephalopathy. It provides a wealth of information for researchers, healthcare professionals, patients, and their families to further understand and improve the diagnosis and treatment of this rare condition.

References

The following references provide additional information about SCN8A-related epilepsy with encephalopathy:

  1. Seattle Children’s Hospital – Provides a catalog of rare genetic diseases and their associated genes. Learn more.
  2. Genetic and Rare Diseases Information Center (GARD) – Offers information about rare diseases and conditions. Learn more.
  3. OMIM – Provides comprehensive information about genetic inheritance and associated genes. Learn more.
  4. PubMed – Offers a database of scientific articles and research studies. Learn more.
  5. ClinicalTrials.gov – Provides information about ongoing clinical trials related to SCN8A-related epilepsy with encephalopathy. Learn more.
  6. The Troncoso Laboratory – Conducts research on the causes and function of genetic signals in SCN8A-related epilepsy with encephalopathy. Learn more.
  7. Epilepsy Foundation – Offers advocacy, information, and resources for patients and families affected by epilepsy. Learn more.

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