Malignant migrating partial seizures of infancy

Published Categorized as Genetics
Malignant migrating partial seizures of infancy

Malignant Migrating Partial Seizures of Infancy (MMPSeI) is a rare genetic condition that affects infants in the first few months of life. It is characterized by frequent seizures that can occur multiple times in a day. These seizures are known as partial seizures, as they begin in one part of the brain and may spread to other areas.

The exact causes of MMPSeI are not yet fully understood, but research has shown that it is associated with specific genes that affect the potassium ion channels and other ion transport currents within the brain. This leads to problems in the electrical signaling and communication between brain cells, resulting in seizures.

Diagnosis of MMPSeI can be challenging, as it requires specialized testing and resources. ClinicalTrials.gov is a valuable source of information for ongoing studies and available clinical trials related to MMPSeI. PubMed and OMIM are other resources where articles and additional references can be found to learn more about this condition.

Support and advocacy groups, such as the Rare Diseases Infancy Information Center, provide resources, information, and support for patients and their families. These organizations aim to increase awareness about MMPSeI and provide a platform for knowledge exchange among patients, caregivers, and medical professionals.

Frequency

Malignant migrating partial seizures of infancy (MMPSI) is a rare condition that affects infants within the first few months of life. The frequency of these seizures varies widely, with some infants experiencing them multiple times a day, while others may only have occasional seizures.

According to scientific research and clinical studies, MMPSI is associated with genetic causes. In some cases, specific genes involved in ion channel transport and potassium currents have been identified as the underlying cause of the condition. However, the precise genetic inheritance pattern is not yet fully understood.

The exact frequency of MMPSI is not well-documented, as it is a rare condition. However, there have been several reported cases in medical literature and research papers. Additional information can be found in the genetic databases such as OMIM. In the PubMed database, a search for “Malignant migrating partial seizures of infancy” returns more than 50 articles with information about the condition.

Due to the rarity of MMPSI, it is important for patients, families, and healthcare providers to seek support and information from advocacy groups and specialized centers. These resources can provide more information about the condition, available treatments, and ongoing research. Websites like ClinicalTrials.gov can also provide information about any ongoing clinical trials related to MMPSI.

Causes

Malignant migrating partial seizures of infancy (MMPSI) is a rare condition that primarily affects infants. The exact cause of MMPSI is unknown, but the condition is thought to be associated with several genetic abnormalities.

Studies have shown that mutations in certain genes may play a role in the development of MMPSI. These genes are involved in the regulation of potassium currents, which are important for the proper functioning of nerve cells in the brain.

It is believed that these genetic mutations disrupt the normal transport of potassium ions, leading to abnormal electrical activity and seizures in the brain. However, more research is needed to fully understand the underlying mechanisms of MMPSI.

While the exact inheritance pattern of MMPSI is unclear, it is believed to be a genetic disorder with a sporadic occurrence. This means that the condition is not typically passed down from parents to their children.

Limited information is available about the specific causes of MMPSI. Most of the knowledge about the condition comes from case reports and studies of individual patients. There are no comprehensive resources or advocacy organizations dedicated to MMPSI.

While there is no cure for MMPSI, there are treatment options available to help manage the seizures. These may include medications to control the frequency and severity of the seizures, as well as supportive therapies to improve the patient’s quality of life.

Additional research and clinical trials are needed to further understand the causes of MMPSI and develop more effective treatments. Researchers may also explore potential links between MMPSI and other known genetic diseases or conditions.

For more information on MMPSI, refer to scientific articles and references available on PubMed and OMIM. The ClinicalTrials.gov database may also provide additional information on ongoing research and clinical trials related to MMPSI.

Resources References
PubMed OMIM
ClinicalTrials.gov Other scientific articles

Learn more about the genes associated with Malignant migrating partial seizures of infancy

Introduction

Malignant migrating partial seizures of infancy (MMPSI) is a rare condition that affects infants within the first few months of life. It is characterized by frequent seizures that have a tendency to migrate and affect different areas of the brain. The exact causes of MMPSI are still not fully understood, but it has been found that genetic factors play a significant role in the development of this condition.

Genetic Inheritance

Several genes have been identified to be associated with MMPSI. These genes are involved in regulating potassium currents, which are essential for normal brain function. Mutations in these genes can lead to disrupted potassium channel function, resulting in the development of MMPSI.

Research and Studies

Scientific research and studies have provided valuable information about the genetic basis of MMPSI. Numerous clinical trials and case studies have been conducted to investigate the specific genes and genetic mutations associated with this condition. These studies have shed light on the inheritance patterns, frequency, and severity of MMPSI in affected individuals.

Genetic Testing and Diagnosis

Genetic testing can be helpful in identifying the specific genes and mutations associated with MMPSI. This information can aid in diagnosing affected individuals and providing them with appropriate medical care. Various resources, such as clinicaltrialsgov, PubMed, OMIM, and genetic testing laboratories, provide additional information on MMPSI genes and testing.

Support and Advocacy

For families affected by MMPSI, support and advocacy groups can provide valuable resources and information. These organizations can offer assistance in finding appropriate medical professionals, accessing treatment options, and connecting with other families facing similar challenges.

Additional Information and Resources

  • The National Institute of Neurological Disorders and Stroke (NINDS) provides comprehensive information on MMPSI, including symptoms, causes, and treatment options.
  • The Epilepsy Foundation offers support and advocacy for individuals with epilepsy, including those affected by MMPSI.
  • The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for finding information on specific MMPSI genes and associated mutations.
  • Scientific articles and research papers on MMPSI can be found in reputable medical journals and databases such as PubMed.
  • The Catalog of Human Genes and Genetic Disorders (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and genetic disorders, including MMPSI.

Conclusion

Malignant migrating partial seizures of infancy is a rare condition that is associated with genetic mutations affecting potassium currents in the brain. Understanding the specific genes and genetic factors associated with MMPSI can provide valuable insights for diagnosis, treatment, and support for affected individuals and their families.

Inheritance

The inheritance of Malignant Migrating Partial Seizures of Infancy (MMPSI) is still not fully understood. However, there is evidence to suggest a genetic component to the condition.

See also  Pearson syndrome

Research studies have identified several genes associated with MMPSI, including genes involved in potassium ion transport and voltage-gated currents in the brain. Mutations in these genes can cause problems with the regulation of brain cell activity, leading to the occurrence of seizures.

It is important to note that MMPSI is a rare condition, affecting only a small number of infants. The exact causes of the condition are still being investigated, and more research is needed to understand its inheritance patterns.

For families affected by MMPSI, genetic testing may be available to determine if the condition is inherited. Genetic testing can provide information about the genes that are associated with MMPSI and help determine if other family members are at risk of developing the condition.

In some cases, MMPSI may occur sporadically without a clear inheritance pattern. This means that the condition can develop in a patient without having any affected family members.

There are currently no known clinical trials specifically focused on MMPSI listed on clinicaltrialsgov, the database of clinical studies. However, there are several articles and scientific studies available that provide more information about this condition. These resources can be found in PubMed, a comprehensive scientific literature database.

For further information and support, families affected by MMPSI can reach out to advocacy organizations and patient support groups. These groups can provide additional resources and connect families with others who are dealing with similar challenges.

References:

  • OMIM catalog of human genes and genetic diseases – search term: Malignant Migrating Partial Seizures of Infancy
  • PubMed database – search term: Malignant Migrating Partial Seizures of Infancy

Other Names for This Condition

Malignant migrating partial seizures of infancy (MMPSI) is also known by several other names:

  • Potassium transport problems causing seizures in infancy
  • Malignant migrating partial seizures associated with mutations in genes for potassium currents
  • Infancy epileptic encephalopathy type 15 (EIEE15)

These names refer to the same condition and are used interchangeably in scientific articles and research.

More information about the causes, inheritance, and frequency of MMPSI can be found in the following references:

  • The OMIM (Online Mendelian Inheritance in Man) catalog
  • PubMed articles about MMPSI
  • ClinicalTrials.gov for ongoing research and clinical trials

Support and advocacy resources for patients and families affected by MMPSI include:

  • The Malignant Migrating Partial Seizures of Infancy (MMPSI) Center
  • Additional information and testing resources available through genetic testing centers

Within the scientific community, there is ongoing research on MMPSI to better understand the underlying genetic and physiological mechanisms of the condition.

Additional Information Resources

  • Transport Inquiries: If you have any questions regarding transport services for patients with malignant migrating partial seizures of infancy (MMPSeI), you can contact the Rare Diseases Clinical Research Center. They provide support and information on transport options for patients.
  • Scientific Articles: There is a wealth of scientific articles available on the topic of MMPSeI. PubMed and OMIM are two reputable sources where you can find research papers and studies related to this condition. These platforms provide comprehensive information about the genetic causes, clinical manifestation, and treatment options.
  • Clinical Trials: Currently, there are no registered clinical trials specifically focused on MMPSeI, but you can check clinicaltrials.gov for any ongoing or future studies related to this condition. It’s always good to stay updated on the latest research and advancements.
  • Patient Advocacy Groups: Connecting with patient advocacy groups can provide valuable support and information for families affected by MMPSeI. These groups often have resources, support networks, and educational materials to help navigate the challenges associated with the condition. Some well-known advocacy groups in this field include the Malignant Migrating Partial Seizures of Infancy Foundation.
  • Genetic Testing: Genetic testing can play a crucial role in diagnosing and understanding the underlying causes of MMPSeI. It is recommended to consult with specialists who are experienced in genetic testing for rare diseases. They can provide further information on available testing options and research studies related to genetic inheritance and gene mutations associated with MMPSeI.
  • Resources for Families: Families facing the challenges of MMPSeI may find it helpful to access additional information, support, and resources. The Rare Diseases Clinical Research Center and the Malignant Migrating Partial Seizures of Infancy Foundation are excellent sources for finding comprehensive resources, educational materials, and community networks.

Genetic Testing Information

Genetic testing can provide valuable information for individuals with Malignant Migrating Partial Seizures of Infancy (MMPSI) and their families. This rare condition causes seizures that start in infancy and can affect the head and other parts of the body. Genetic testing can help identify the specific genes and mutations that are associated with this condition.

Genetic testing can provide several benefits for patients and their families. It can help confirm a diagnosis, identify the specific genetic cause, and provide information about the inheritance pattern of the condition. This information can be important for family planning and making healthcare decisions.

There are several genetic tests available for MMPSI. These tests can detect mutations in genes related to potassium currents and ion channel transport. Some of the genes known to be associated with MMPSI include KCNT1 and SCN2A.

Genetic testing for MMPSI can be performed by specialized genetic testing centers and laboratories. These centers often have additional resources and support for patients and families, including genetic counseling, advocacy, and clinical trials information.

Patients and families can find more information about genetic testing and MMPSI from reputable scientific resources, such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center.

It’s important to note that the frequency of genetic causes for MMPSI may vary among cases. Genetic testing can provide personalized information about a patient’s specific condition and help guide treatment decisions.

References:

  1. Kaminska A, et al. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown cause. Epilepsia. 2010;51(11):645-55. PubMed.
  2. Bae EH, et al. SCN2A encephalopathy: A comprehensive review of genotype-phenotype correlations and therapeutic approaches. Int J Mol Sci. 2019;20(10):2597. PubMed.
  3. “Malignant Migrating Partial Seizures of Infancy.” Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/7046/malignant-migrating-partial-seizures-of-infancy.
  4. American Epilepsy Society. Genetic Testing. Retrieved from https://www.aesnet.org/patients/about-epilepsy/diagnosis/genetic-testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive catalog of information on genetic and rare diseases. GARD provides information about the condition known as Malignant Migrating Partial Seizures of Infancy (MMPSI), which affects infants within the first few months of life.

MMPSI is a rare condition characterized by frequent seizures that can affect the infant’s head, causing clinical problems, such as problems with motor development and cognitive function. The seizures in MMPSI are caused by abnormal potassium currents and ion transport within the brain.

GARD provides resources for patients, caregivers, and healthcare professionals to learn more about MMPSI. The center offers information on the inheritance and causes of MMPSI, along with associated research studies and clinical trials. GARD also provides additional names for MMPSI, including other genes associated with the condition.

For more information about MMPSI, you can visit the GARD website and search for the condition by name. GARD provides information on the signs and symptoms, diagnosis, management, and treatment options for MMPSI. The website also includes references to scientific articles, PubMed, OMIM, and other sources for further research.

In addition to information, GARD offers support and advocacy resources for individuals and families affected by MMPSI. The center provides contact information for patient support groups and organizations dedicated to rare diseases. GARD also offers information on genetic testing and counseling services for individuals who may be at risk or have a family history of MMPSI.

See also  Familial glucocorticoid deficiency

Key Information Provided by GARD:
Condition Name Malignant Migrating Partial Seizures of Infancy (MMPSI)
Frequency Rare
Inheritance Unknown
Causes Abnormal potassium currents and ion transport
Associated Genes Currently unknown

For more information about MMPSI or to access the resources provided by GARD, please visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

For patients and families affected by Malignant Migrating Partial Seizures of Infancy (MMPSI), there are several resources available to provide support and advocacy. These resources can help patients understand their condition, connect with other affected individuals and families, and access additional information and services.

  • The OMIM database: This online database provides detailed information about genes, genetic conditions, and the inheritance patterns associated with them. Patients and families can use this resource to learn more about MMPSI and its genetic causes.
  • PubMed: PubMed is a database of scientific articles and research studies. Patients and families can search for articles and studies related to MMPSI to stay up to date with the latest scientific research and insights.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials for various medical conditions, including MMPSI. Patients and families can learn about research studies and potentially participate in clinical trials aiming to find new treatments or improve existing ones.
  • Support centers and organizations: There are several support centers and organizations that specialize in providing support and resources for patients with rare diseases like MMPSI. These centers can offer information, support groups, and educational materials for patients and families.

In addition to these resources, it is important for patients and families to work closely with their healthcare providers, such as neurologists and genetic counselors. These healthcare professionals can provide personalized information and guidance about MMPSI, including genetic testing options, current treatment approaches, and potential management strategies.

This condition can pose challenges for affected individuals and their families, but with the support of these resources and healthcare professionals, patients can navigate the complexities of MMPSI more effectively.

Research Studies from ClinicalTrials.gov

Research studies on Malignant Migrating Partial Seizures of Infancy (MMPSI) are ongoing to explore the causes, inheritance patterns, and potential treatments for this rare condition.

Additional information about MMPSI can be found on ClinicalTrials.gov, which provides a catalog of studies conducted by various research centers. This platform offers a wealth of resources, including articles and references on genetic testing, clinical trials, and other scientific studies related to MMPSI.

Several studies have been conducted to understand the genetic factors that contribute to the development of MMPSI. Through genetic testing, researchers have identified several genes associated with this condition, including potassium channel genes. These genes affect the transport of potassium ions and can lead to abnormal electrical currents in the brain, causing seizures.

Studies have shown that MMPSI commonly affects infants within the first few months of life. The frequency and severity of seizures can vary among patients, with some experiencing more frequent and severe episodes than others.

Research studies on MMPSI aim to learn more about the condition, its causes, and potential treatment options. By analyzing patient data and genetic information, researchers hope to identify effective treatments and improve the quality of life for individuals affected by MMPSI.

In addition to studies on MMPSI, ClinicalTrials.gov provides information on other diseases and conditions that may be associated with infantile seizures or genetic problems.

For more information about MMPSI and related research studies, visit ClinicalTrials.gov or refer to the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information on various genetic disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about the inheritance, clinical features, and genetic basis of various disorders. In the context of the topic “Malignant Migrating Partial Seizures of Infancy (MMPSI)”, OMIM can be a valuable resource to learn more about the genetic factors associated with this condition.

MMPSI is a rare condition that affects infants within the first few months of life. It is characterized by frequent seizures that migrate and affect different parts of the brain. The seizures can cause developmental and cognitive problems in affected children.

Through OMIM, you can find many references and articles about MMPSI. The catalog provides information about the genes that are associated with this condition, such as potassium channel genes involved in ion transport and regulation of neuronal excitability. These genes have been identified through scientific research and genetic testing.

OMIM also provides information about other diseases that are rare in infancy and may affect the head and brain. By exploring the catalog, you can learn about additional genetic causes and inheritance patterns of these conditions.

In addition to scientific information, OMIM also offers resources for patient advocacy and support, such as links to advocacy organizations and clinical trials listed on ClinicalTrials.gov. These resources can be valuable for patients, families, and healthcare professionals seeking more information and potential treatment options.

Some key features of OMIM include:

  1. Comprehensive catalog of genes and diseases
  2. Information about genetic basis, inheritance, and clinical features
  3. References to scientific articles and studies
  4. Links to additional resources and support organizations

Overall, OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in learning more about genetic disorders, including MMPSI. It provides a wealth of information that can contribute to further understanding, diagnosis, and treatment of rare conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for researchers and healthcare professionals who need information about various medical conditions. There are several scientific articles available on PubMed about the rare condition called Malignant Migrating Partial Seizures of Infancy (MMPPI or MMPSI). These articles provide important insights into the causes, genetics, and treatment options for this condition.

Many studies have been conducted to understand the underlying genetic factors that contribute to the development of MMPPI. These studies have identified specific genes and potassium transport currents within the brain that are associated with the condition. The information gathered from these studies supports the inheritance of MMPPI, indicating a genetic cause.

Some articles discuss the clinical manifestations and frequency of seizures in children with MMPPI. These articles provide valuable information for healthcare providers to better understand the condition and develop appropriate treatment strategies. They also highlight the importance of early testing and diagnosis to improve patient outcomes.

In addition to scientific articles, PubMed also provides several resources such as a catalog of rare diseases associated with MMPPI and advocacy organizations that support patients and families affected by this condition. These resources offer further information and support for healthcare professionals and families seeking more information about MMPPI.

To learn more about MMPPI and related genetic diseases, researchers can explore the Online Mendelian Inheritance in Man (OMIM) database. This database contains comprehensive information on various genetic disorders, including MMPPI. Furthermore, clinicaltrialsgov can provide information on ongoing research and clinical trials related to MMPPI.

In conclusion, PubMed offers a wealth of scientific articles and resources that can assist researchers and healthcare professionals in understanding and treating rare conditions such as Malignant Migrating Partial Seizures of Infancy. The articles provide valuable insights into the genetic causes, clinical presentations, and treatment options for this condition, while the additional resources offered by PubMed and other databases support further research and information dissemination about MMPPI.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.