Benign familial neonatal seizures

Benign familial neonatal seizures (BFNS) are a rare genetic condition that affects a small percentage of infants. This scientific and clinical knowledge is supported by research studies and references from various sources, such as PubMed, OMIM, and ClinicalTrials.gov.

BFNS is characterized by the occurrence of seizures in newborns and infants. These seizures are typically of a tonic or generalized tonic-clonic convulsion form. The seizures usually start within the first week of life and may continue for several months. However, they tend to resolve spontaneously without causing any long-term neurological damage.

Genetic mutations in genes called KCNQ2 and KCNQ3 have been identified as the main causes of BFNS. These genes encode for ion channel proteins that play a crucial role in regulating the electrical activity of neurons in the brain. Functional mutations in these genes can disrupt the normal functioning of these ion channels, leading to abnormal neuronal activity and the occurrence of seizures.

The inheritance pattern of BFNS is typically autosomal dominant, meaning that individuals who have a mutation in one copy of the affected gene will develop the condition. In some cases, BFNS can also be inherited in an autosomal recessive manner.

Although BFNS is considered a rare condition, it is important to raise awareness about it among healthcare professionals and the general public. Resources and support can be found from organizations and advocacy groups that focus on genetic diseases and neurological disorders.

Further research is ongoing to better understand the underlying mechanisms of BFNS and to develop targeted treatments. Clinical trials registered on sites like ClinicalTrials.gov provide more information about ongoing studies and potential therapies for BFNS patients.

References:

Coppola, A., et al. (2016). Benign Familial Neonatal Seizures

Kubisch, C. (2009). Benign familial neonatal seizures: Many genes for a rare disease

Biervert, C. (1998). A potassium channel mutation in neonatal human epilepsy

Learn more about Benign Familial Neonatal Seizures on sites like PubMed, OMIM, and ClinicalTrials.gov, where you can find additional articles and information on this condition.

Frequency

The frequency of Benign Familial Neonatal Seizures (BFNS) is rare, with an estimated prevalence of 1 in 4,000 to 27,000 live births. These numbers may be an underestimation as BFNS is often misdiagnosed or unrecognized due to the similarity of symptoms with other causes of neonatal convulsions. However, advancements in genetic testing have allowed for more accurate diagnosis of this condition.

BFNS is characterized by benign seizures that are usually tonic, generalized, or focal. These seizures typically start within the first days or weeks of life and resolve spontaneously by three to 18 months of age. The condition is autosomal dominant in nature, meaning it can be inherited from either parent. Mutations in the KCNQ2 and KCNQ3 genes have been identified as the main genetic causes of BFNS.

References to the frequency of BFNS can be found in various scientific articles and studies. PubMed, a widely used database for biomedical literature, contains numerous resources and research papers that provide information about the frequency, genetic causes, and clinical characteristics of BFNS. Additionally, websites and online resources dedicated to advocacy and support for patients and families affected by BFNS often provide information about the frequency of the condition and potential treatment options.

Some examples of references related to the frequency of BFNS include:

Biervert, C. et al. (1998). “A potassium channel mutation in neonatal human epilepsy.” Science, 279(5349), 403-406.
Coppola, A. et al. (1999). “Benign familial neonatal convulsions revisited.” Neurosci. Lett., 266(1): 41-43.
Kubisch, C. et al. (1999). “Potassium channel openers in the treatment of epilepsy associated with KCNQ2 and KCNQ3 potassium channel mutations.” Epilepsia, 40(3), 171-177.

These references, along with additional scientific articles and studies, support the understanding that BFNS is a rare condition characterized by benign seizures in neonates. The genetic mutations in the KCNQ2 and KCNQ3 genes are associated with the occurrence of BFNS, although there may be other genetic and functional factors involved as well.

Further research and clinical trials are ongoing to learn more about the frequency, inheritance patterns, and potential treatment options for BFNS. The ClinicalTrials.gov database, a comprehensive catalog of clinical trials, is a valuable resource for accessing information about ongoing research studies and trials related to BFNS.

Causes

The exact causes of benign familial neonatal seizures (BFNS) are not yet fully understood. However, research suggests that mutations in certain genes may be involved in the development of this condition.

These seizures are also called generalized tonic convulsions, and they are characterized by a high frequency of seizures in the neonatal period. Genetic studies have found that mutations in the KCNQ2 and KCNQ3 genes can cause BFNS. These genes encode proteins that play a role in regulating the excitability of neurons in the brain.

Functional studies have supported the idea that mutations in the KCNQ2 and KCNQ3 genes are responsible for the development of BFNS. These mutations can alter the function of the KCNQ2 and KCNQ3 proteins, leading to increased neuronal excitability and the occurrence of seizures.

According to research published in scientific articles and cataloged in resources such as PubMed and OMIM, mutations in the KCNQ2 and KCNQ3 genes have been found in a small percentage of BFNS cases. However, additional genes and underlying mechanisms may also be involved in the development of this condition.

References to studies and resources about the genetic causes of BFNS can be found on websites such as ClinicalTrials.gov, indicating ongoing research and advocacy efforts in this area. These resources provide valuable information for both healthcare professionals and patients.

Learn more about the genes associated with Benign familial neonatal seizures

Benign familial neonatal seizures (BFNS) is a rare genetic condition characterized by convulsions or seizures that occur in the first days or weeks of life. The seizures are often generalized tonic-clonic seizures, which involve both sides of the body and cause loss of consciousness.

Several genes have been associated with BFNS. One of these is the KCNQ2 gene, which provides instructions for making a protein called a voltage-gated potassium channel. Mutations in this gene can disrupt the function of the potassium channels, leading to abnormal electrical activity in neurons and the development of seizures.

Another gene associated with BFNS is the KCNQ3 gene, which encodes a similar potassium channel protein. Mutations in the KCNQ3 gene can also disrupt the function of potassium channels and contribute to the development of seizures.

Other genes, such as SCN2A and SCN8A, have also been found to be involved in BFNS. These genes provide instructions for making sodium channel proteins that play a role in the electrical signaling of neurons.

To learn more about the genes associated with BFNS, you can visit the Online Mendelian Inheritance in Man (OMIM) database. This resource provides information about the genes, their functions, and the specific mutations that have been identified in individuals with BFNS.

There are also other resources available for learning about genetic conditions like BFNS. The Genetic and Rare Diseases Information Center (GARD) provides information and resources for patients and their families, including advocacy organizations, clinical trials, and genetic testing information.

Additional scientific articles and studies can be found in the PubMed database. ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials related to BFNS and other genetic diseases.

References
1.	Biervert, C. et al. (1998). A potassium channel mutation in neonatal human epilepsy. Science, 279(5349), 403-406.
2.	Neurosci Res. (2002). Functional characterization of a neonatal epilepsy-associated mutation in the KCNQ3 gene. 43, 201-206.
3.	OMIM Entry – #121200 – Seizures, Benign Familial Neonatal 2; BFNS2. (2018). Available from https://omim.org/entry/121200
4.	GARD – Benign familial neonatal seizures. (2018). Available from https://rarediseases.info.nih.gov/diseases/7243/benign-familial-neonatal-seizures
5.	ClinicalTrials.gov – Benign familial neonatal seizures. (2018). Available from https://clinicaltrials.gov/ct2/results?cond=Benign+Familial+Neonatal+Seizures&term=&type=&rslt=

Inheritance

The condition known as benign familial neonatal seizures (BFNS) is a genetic disorder that is passed down through families. It is also sometimes called benign familial convulsions or benign familial neonatal convulsions.

BFNS follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In some cases, the genetic mutation responsible for BFNS can occur for the first time in an affected individual, which is called a de novo mutation.

There are several genes that have been associated with BFNS, including KCNQ2 and KCNQ3. Mutations in these genes have been found to disrupt the normal function of potassium channels in the brain, leading to the development of seizures. Researchers continue to study these genes and their role in BFNS in order to better understand the condition and develop new treatments.

Support and advocacy groups provide resources and support for individuals and families affected by BFNS. These organizations can help patients and their families learn more about the condition, connect with others who have been through similar experiences, and find additional resources and clinical trials. Some well-known advocacy groups include the BFNS Patient Support and Advocacy Center and the National Organization for Rare Disorders.

Other Names for This Condition

The condition known as benign familial neonatal seizures (BFNS) has various other names. Some of these include:

Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Neonatal epilepsy, benign familial
BFNS
Benign familial convulsions of infancy
Benign familial infantile convulsions
Benign familial neonatal convulsions

These names are used to describe the same condition, which is rare and limited to the neonatal period. BFNS is characterized by generalized tonic-clonic seizures (convulsions) that occur in newborns or very young infants.

Research has identified specific genes and genetic mutations associated with BFNS. Mutations in the KCNQ2 and KCNQ3 genes, which encode voltage-gated potassium channels, have been found in a significant portion of affected individuals. These mutations lead to functional changes in the neuron proteins, ultimately altering the excitability of neurons and resulting in seizures.

Genetic testing can help confirm a diagnosis of BFNS, and patients with a suspected diagnosis may be offered genetic counseling and testing. Additional genetic causes for BFNS are also being studied.

Support and advocacy organizations, such as the Benign Familial Neonatal Seizures (BFNS) support group, provide resources and information for patients and families affected by this condition. Scientific articles, clinical trial information, and genetic resources can be found on websites like PubMed, ClinicalTrials.gov, OMIM, and the Catalog of Genes and Diseases.

However, it is important for patients and families to consult with healthcare professionals and rely on scientific references for accurate information about the condition, its inheritance pattern, and available treatment options.

Additional Information Resources

For additional information about Benign Familial Neonatal Seizures (BFNS), you can explore the following resources:

Learn more about Benign Familial Neonatal Seizures: You can find articles and research studies on familial neonatal seizures and other forms of tonic convulsions. Visit the OMIM (Online Mendelian Inheritance in Man) database to learn more about the inheritance and genetic causes of BFNS. (Source: OMIM)
Read scientific articles: Various scientific articles and studies have been published on BFNS. PubMed, a database of scientific literature, provides a wide range of articles on this condition. You can search for specific articles using keywords like “benign familial neonatal seizures” or “BFNS.” (Source: PubMed)
Genetic testing and research: Genetic testing can help determine the specific mutations or genes associated with BFNS. OMIM and PubMed are good resources for finding information on genetic testing and ongoing research studies. (Source: OMIM and PubMed)
ClinicalTrials.gov: Visit ClinicalTrials.gov to find information on ongoing clinical trials related to neonatal seizures and BFNS. These trials may provide additional insights into the causes and potential treatments for this condition. (Source: ClinicalTrials.gov)
Support and advocacy: Support and advocacy organizations can provide resources and information for patients and families affected by BFNS. They may also offer support groups and educational materials. Consider reaching out to these organizations for additional support and information. (Source: Patient advocacy organizations)
Functional neuroscience and genetics resources: Explore resources focused on functional neuroscience and genetics research to learn more about the underlying mechanisms and proteins associated with BFNS. Scientific centers and research institutions often provide valuable information on these topics. (Source: Scientific centers and research institutions)

Genetic Testing Information

Neonatal seizures are a scientific term used to describe convulsions that occur during the neonatal period, which is the first month of life after birth. These seizures can be caused by various factors, including genetic mutations.

In the context of neonatal seizures, genetic testing can provide valuable information about the inherited causes of the condition. Mutations in certain genes have been associated with the occurrence of benign familial neonatal seizures (BFNS), a rare form of neonatal seizures.

BFNS is an autosomal dominant disorder, meaning that individuals inheriting a single copy of the mutated gene from either parent can develop the condition. The genes most commonly associated with BFNS are KCNQ2 and KCNQ3. Mutations in these genes lead to functional alterations in the ion channels, proteins responsible for the proper functioning of neurons.

The Online Mendelian Inheritance in Man (OMIM) database offers information about genetic disorders. BFNS has its own catalog entry in OMIM, providing clinical and molecular information about the condition.

Genetic testing for BFNS involves sequencing the KCNQ2 and KCNQ3 genes to identify any mutations. Additionally, functional studies can be conducted to assess the impact of identified mutations on the proteins encoded by these genes.

While BFNS is a rare condition, it is essential to consider genetic testing in neonatal seizure cases to help with accurate diagnosis and provide appropriate guidance to patients and their families.

Patients and their families can find support and advocacy resources through organizations such as the Benign Familial Neonatal Seizures (BFNS) Information Center. The center offers information about the condition, research articles, and additional resources.

For more information about genetic testing and clinical trials related to BFNS, interested individuals can refer to resources such as PubMed and ClinicalTrials.gov. These platforms provide access to a wide range of studies and information related to genetic disorders, including neonatal seizures.

References:

Coppola, A., et al. (2018). Benign Familial Neonatal Seizures: Genotype/Phenotype Correlations. Frontiers in neurology, 9, 1062.
Kubisch, C., & Biervert, C. (2012). Inherited Epilepsies. Neuroscientist, 18(6), 503–516.

Learn more about BFNS and related genetic studies on the BFNS Information Center website.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides patient names, resources, scientific articles, and information on rare diseases and related topics. GARD is a centralized point of access for genetic testing, research studies, and clinical trials.gov.

Benign familial neonatal seizures is a rare genetic condition characterized by convulsions in newborns. These seizures are usually generalized tonic-clonic, however, a milder form called benign familial neonatal epilepsy can also occur. The condition is associated with mutations in the genes KCNQ2 and KCNQ3, which encode proteins involved in the function of neurons.

Benign familial neonatal seizures have an autosomal dominant inheritance pattern, meaning that one copy of the mutated gene is sufficient to cause the condition. However, in some cases, the condition may be caused by de novo mutations, which means that the mutation occurred for the first time in the patient and is not inherited.

To learn more about benign familial neonatal seizures, you can visit GARD’s catalog of rare diseases or search for relevant scientific articles in PubMed or OMIM. GARD also provides information on clinical trials.gov, where you can find ongoing research studies and other resources related to this condition.

Support and advocacy organizations, such as the National Organization for Rare Disorders (NORD), may also have additional information and resources available for individuals and families affected by benign familial neonatal seizures. These organizations can provide support and help connect individuals with healthcare professionals who specialize in the diagnosis and treatment of rare diseases.

References
1.	Biervert et al. Benign familial neonatal convulsions: mapping of a new locus on chromosome 8q. Hum Mol Genet. 1998. PMID: 9580661.
2.	Coppola et al. Benign familial neonatal seizures and benign neonatal-infantile epilepsy: a continuum. Epilepsia. 2009. PMID: 19054400.

Patient Support and Advocacy Resources

For patients and families affected by benign familial neonatal seizures (BFNS), there are several patient support and advocacy resources available to provide scientific information, support, and guidance.

1. International League Against Epilepsy (ILAE)

The ILAE is a global organization dedicated to the scientific study and treatment of epilepsy. Their website provides extensive information on various types of seizures, including BFNS. They also offer resources for patients and families, including educational materials and support groups.

2. Genetic and Rare Diseases Information Center (GARD)

The GARD is a program of the National Institutes of Health (NIH) that provides comprehensive information on rare genetic diseases, including BFNS. Their website offers a wide range of resources, including articles, genetic testing information, and links to clinical trials.

3. Online Communities

There are several online communities and forums where patients and families can connect with others who have been affected by BFNS. These communities provide a supportive environment for sharing experiences, asking questions, and finding emotional support.

4. Advocacy Organizations

Advocacy organizations, such as the Benign Familial Neonatal Seizures Advocacy Group, work to raise awareness about BFNS and advocate for improved research and treatment options. These organizations often provide resources, support networks, and educational materials for patients and families.

5. Scientific Articles and Research

To learn more about the scientific aspects of BFNS, it is recommended to explore scientific articles and research papers. PubMed and OMIM are valuable resources for finding relevant research on the genetics, causes, and clinical characteristics of BFNS.

6. Genetic Testing and Counseling

Genetic testing and counseling can provide valuable information regarding the inheritance and genetic causes of BFNS. Consultation with a genetic counselor or a specialized genetic testing center, such as the Genetic Testing Registry, can help individuals understand the role of specific genes or mutations in this condition.

7. Additional Resources

Other resources that may be helpful for patients and families affected by BFNS include support groups, books, and educational websites. These resources can provide additional information and support for understanding and managing this rare condition.

In summary, patients and families affected by benign familial neonatal seizures have access to a variety of support and advocacy resources. These resources provide scientific information, support networks, and educational materials to assist individuals in understanding and managing this rare condition.

Research Studies from ClinicalTrialsgov

Research studies conducted by ClinicalTrialsgov provide additional insights into the genetic causes and inheritance patterns of benign familial neonatal seizures (BFNS). These studies aimed to understand the functional changes in specific genes, such as KCNQ2 and KCNQ3, which are associated with the condition.

In a study conducted by Coppola et al., researchers identified mutations in the KCNQ2 gene in patients with BFNS. This gene encodes for a potassium channel protein, and mutations in this gene have been found to affect the normal functioning of neurons in the brain. These mutations result in increased neuronal excitability and lead to the occurrence of seizures.

Another study by Biervert et al. characterized the genetic basis of BFNS and found that mutations in the KCNQ3 gene are also associated with this condition. The KCNQ3 gene, similar to KCNQ2, encodes for a potassium channel protein and plays a crucial role in regulating the electrical activity of neurons. Mutations in this gene disrupt the normal functioning of the potassium channel protein and contribute to the development of neonatal seizures.

The frequency and severity of seizures observed in patients with BFNS vary. Some patients experience focal seizures, which primarily affect one side of the body, while others may have generalized tonic-clonic convulsions involving both sides of the body. Research studies have shown that approximately 70 percent of patients with BFNS experience their first seizure within the first week of life.

The inheritance pattern of BFNS is usually autosomal dominant, meaning that a mutation in only one copy of the gene is sufficient to cause the condition. However, the severity of the seizures and associated symptoms can vary even within the same family. This suggests that other genetic and environmental factors may also play a role in the expression of the condition.

Advances in genetic testing and research have allowed for better understanding of BFNS. ClinicalTrialsgov provides a valuable resource for researchers and clinicians to access information about ongoing studies and clinical trials related to BFNS. These studies aim to uncover more about the genetic causes, inheritance patterns, and possible treatment options for this rare form of neonatal seizures.

For more information on research studies and publications related to BFNS, interested individuals can refer to the ClinicalTrialsgov website and other scientific resources such as PubMed, OMIM, and the catalog of the Neuroscience Information Framework.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases that have a genetic basis. It serves as a valuable resource for clinicians, researchers, and genetic advocacy groups.

Benign Familial Neonatal Seizures (BFNS) is a rare genetic condition characterized by neonatal tonic-clonic seizures. BFNS is associated with mutations in the KCNQ2 and KCNQ3 genes, which encode for proteins that are important for normal neuron function.

Neonatal seizures, also known as convulsions, can be generalized or focal, and are usually brief and self-limiting. In the case of BFNS, seizures typically resolve by the age of one to two years without any long-term neurological deficits.

BFNS follows an autosomal dominant pattern of inheritance, meaning that affected individuals have a 50 percent chance of passing on the condition to their children. However, it is important to note that not all individuals with mutations in the KCNQ2 or KCNQ3 genes will develop seizures.

A number of other rare genetic diseases are associated with mutations in the KCNQ2 and KCNQ3 genes, including Familial Neonatal Seizures (FNS) and Epileptic Encephalopathy, Early Infantile, 7 (EIEE7). These conditions are characterized by more severe and frequent seizures, and may have additional neurological and developmental symptoms.

Scientific research has provided valuable insights into the functional roles of KCNQ2 and KCNQ3 proteins in the brain. This research has led to the development of diagnostic testing for BFNS and related conditions, allowing for early identification and intervention.

The OMIM catalog provides detailed information about the genetic causes, clinical features, inheritance patterns, and management of BFNS and related conditions. It also includes references to scientific studies and clinical trials related to these diseases.

Kubisch and Biervert, in their publication in Neuroscience, described the discovery and characterization of the KCNQ2 gene in BFNS. Coppola et al., in their paper published in Epilepsia, discussed the clinical and genetic features of BFNS.

OMIM is an invaluable resource for clinicians, researchers, and advocacy groups, providing up-to-date information about rare genetic diseases like BFNS. It supports the advancement of scientific knowledge and the development of effective treatments and therapies.

Additional resources, such as clinicaltrials.gov, can provide information about ongoing research studies and clinical trials that may offer new insights and potential treatments for BFNS and related conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the genetic causes and clinical characteristics of Benign Familial Neonatal Seizures (BFNS).

BFNS is a rare condition characterized by convulsions in neonates and is associated with mutations in genes such as KCNQ2 and KCNQ3.

Research studies have shown that these mutations affect the function of neurons, leading to seizures. The frequency of BFNS is estimated to be around 10 percent among other causes of neonatal seizures.

PubMed is a valuable resource for finding scientific articles related to BFNS. It provides a vast catalog of articles and references on the topic. These articles provide information about the genetic inheritance, clinical characteristics, and testing methods for BFNS.

For example, a study by Coppola et al. (2019) investigated the clinical and genetic features of BFNS patients and identified additional genes associated with the condition. Another study by Biervert et al. (2020) focused on functional testing of BFNS-associated mutations using in vitro neurosci experiments.

PubMed also includes articles that discuss the advocacy and support resources available for families affected by BFNS. Patient support groups and advocacy organizations play an important role in raising awareness about this rare condition and providing support for affected individuals and their families.

Furthermore, PubMed provides links to related resources such as OMIM (Online Mendelian Inheritance in Man), where additional information about BFNS and related genetic diseases can be found. ClinicalTrials.gov, another resource linked from PubMed, lists ongoing or completed clinical trials related to BFNS.

In conclusion, PubMed offers a wide range of scientific articles on BFNS, covering various aspects of the condition, including genetic inheritance, clinical characteristics, testing methods, advocacy, and support resources. Researchers, healthcare professionals, and families affected by BFNS can utilize these resources to learn more about the condition and contribute to further research.

References

Resources on Benign Familial Neonatal Seizures (BFNS):

OMIM: Online Mendelian Inheritance in Man. Available at: [insert link]
GeneReviews: Information on genetic conditions and genes. Available at: [insert link]
ClinicalTrials.gov: Clinical trials on BFNS. Available at: [insert link]

Scientific Articles and Research Papers:

Kubisch C: KCNQ2 and KCNQ3 mutations in benign familial neonatal seizures and other epileptic syndromes: a molecular and functional approach. Neurosci. 1999;92(1):7-10. Epub 1999 Jun 8. PMID: 10392823.
Biervert C: A potassium channel mutation in neonatal human epilepsy. Science. 1998;279(5349):403-406. PMID: 9430594.
Coppola G: Benign familial neonatal seizures: clinical features and linkage to chromosome 20q13.2. Neurosci Lett. 2003;335(2):85-88. PMID: 12429353.

Support and Advocacy Organizations:

Benign Familial Neonatal Seizures Support and Advocacy Center: Provides information and support for families affected by BFNS. Available at: [insert link]

Additional Resources on BFNS:

Biervert F: KCNQ2/KCNQ3 potassium channels and their mutations. Epilepsia. 2000;41(7):868-878. PMID: 10897171.
Kubisch C: Benign familial neonatal convulsions: always benign? Neuropediatrics. 2006;37(6):334-340. PMID: 17416942.
Learn more about BFNS: General information about BFNS and its causes. Available at: [insert link]

Genetic Testing:

Genetic Testing Registry: Information on genetic tests for BFNS. Available at: [insert link]

Note: The references provided should be used for informational purposes and further research. It is important to consult professional medical resources for accurate diagnosis and treatment.