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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), also known as nocturnal frontal lobe epilepsy, is a rare genetic condition that affects the frontal lobes of the brain. It is called autosomal dominant because it follows an inheritance pattern where one copy of the mutated gene is enough to cause the condition. ADNFLE is characterized by episodes of seizures that occur predominantly during sleep.

ADNFLE is caused by mutations in certain genes, although the exact genes involved are still unclear. Researchers have identified several candidate genes that may be associated with the condition, including CHRNA4, CHRNB2, and CHRND. These genes encode subunits of a receptor that plays a critical role in neuronal signaling.

People with ADNFLE often experience complex partial seizures during sleep. These seizures can manifest as abnormal movements or behaviors, such as repetitive movements, vocalizations, or sudden awakenings. Unlike seizures experienced during wakefulness, ADNFLE seizures do not usually cause loss of consciousness. They are often mistaken for other sleep disorders or psychiatric conditions.

Diagnosis of ADNFLE is based on clinical findings and genetic testing. Additional tests, such as electroencephalograms (EEGs), can be used to support the diagnosis. Treatment options for ADNFLE include antiepileptic medications and, in some cases, surgery.

Research is ongoing to learn more about the causes and mechanisms of ADNFLE. The condition is rare, and there are limited resources and research studies available. Patients and their families can find support and more information from advocacy groups and organizations that focus on epilepsy and genetic diseases, such as OMIM and ClinicalTrials.gov.

References:

It’s not just health insurance premiums, but also deductibles, that keep on rising. In 2018, the average deductible was $3,000 for a gold-tier family plan, $8,000 for a silver-tier family plan and $12,000 for a bronze-tier family plan, according to USC Annenberg’s Center for Health Journalism.

– Heron SE, Smith KR, Bahlo M, et al. Mutation of the neuronal ion channel CHRNA2 alters key properties of

nicotinic acetylcholine receptors and causes autosomal dominant nocturnal frontal lobe epilepsy. Nature

Genetics. 2012; 44(11): 1186–1190.

– Noebels JL. Frontal Lobe Epilepsy (Autosomal Dominant Nocturnal Frontal Lobe Epilepsy). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.

– Scheffer IE, et al. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Epilepsy and Genes. 2016.

Frequency

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare genetic condition that affects the frontal lobes of the brain. It is estimated to affect approximately 1 in 100,000 people.

This condition is characterized by clinical episodes of seizures during sleep, which can range from subtle movements to more severe and complex actions. The frequency of these episodes varies among affected individuals, with some experiencing them multiple times per night and others having them less frequently.

In addition to the clinical episodes, ADNFLE is also associated with other symptoms and aura, including feelings of fear, anxiety, or discomfort prior to the seizure. The exact causes of ADNFLE are unclear, but research suggests that mutations or alterations in certain genes, such as CHRNA4 and CHRNB2, which are involved in signaling in the brain, may play a critical role.

To diagnose ADNFLE, a thorough clinical evaluation is conducted, including the person’s medical history, description of the seizure episodes, and neurological examination. Genetic testing may also be performed to identify specific mutations or alterations in the genes associated with ADNFLE.

Although rare, ADNFLE has been the focus of scientific research and clinical trials to further understand the condition and develop new treatments. The Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM) provide additional information and resources for patients and caregivers.

References to scientific articles and clinical trials related to ADNFLE can be found on databases such as PubMed and ClinicalTrials.gov, supporting further research and advancements in understanding the genetic causes and treatment options for this condition.

Causes

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is primarily caused by genetic mutations. More than 20 different genetic mutations in several genes have been identified as the cause of ADNFLE, including rare subunits of ion channels involved in neuronal signaling.

ADNFLE is an inherited condition, and it follows an autosomal dominant inheritance pattern. This means that an affected person has a 50% chance of passing the condition on to their children. However, the severity and frequency of the episodes can vary among affected individuals, even within the same family.

During an episode of ADNFLE, the patient experiences abnormal movements and behaviors that occur during sleep. These episodes can include complex motor movements, such as kicking, punching, and running, as well as behavioral changes, vocalizations, and a feeling of intense fear or aura.

Research has shown that ADNFLE is associated with abnormalities in certain regions of the brain, particularly the frontal lobes. These lobes are responsible for many important functions, including decision-making, problem-solving, and controlling movement.

Although the exact mechanisms by which the genetic mutations cause ADNFLE are still unclear, studies have suggested that these mutations disrupt normal neuronal signaling and ion channel function in the frontal lobes.

Genetic testing for ADNFLE is available and can help confirm the diagnosis in affected individuals. Additionally, genetic studies have provided important insights into the underlying causes of the condition.

For more information about ADNFLE, including clinical trials, advocacy resources, and support groups, you can visit reputable online resources like OMIM (Online Mendelian Inheritance in Man), PubMed, and the Epilepsy Information Center.

References:

Learn more about the genes associated with Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy is a type of epilepsy characterized by frequent, unpredictable seizures that occur during sleep. This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to increase the risk of developing the disorder.

Scientific studies have identified several genes associated with autosomal dominant nocturnal frontal lobe epilepsy, including CHRNA4, CHRNB2, and CHRNA2. These genes provide instructions for making subunits of a type of receptor called the nicotinic acetylcholine receptor, which is involved in signaling between nerve cells.

See also  Gnathodiaphyseal dysplasia

Information about these genes and the role they play in autosomal dominant nocturnal frontal lobe epilepsy can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles. OMIM provides detailed information on genes, genetic disorders, and their associated symptoms.

Patient organizations and support groups also provide information and resources for individuals affected by autosomal dominant nocturnal frontal lobe epilepsy. These organizations can offer support, connect patients with medical professionals, and provide updates on the latest research and clinical trials.

Genetic testing can be done to confirm a diagnosis of autosomal dominant nocturnal frontal lobe epilepsy. This can help determine the specific gene mutation causing the condition and guide treatment decisions. Testing may also be recommended for family members of an affected individual to identify those at risk of developing the disorder.

It is important to note that the exact mechanisms and causes of autosomal dominant nocturnal frontal lobe epilepsy are still unclear. While mutations in certain genes are known to be associated with the condition, other factors may also contribute to the development of seizures and other symptoms.

Additional research and clinical studies are ongoing to better understand the underlying genetic and clinical features of autosomal dominant nocturnal frontal lobe epilepsy. This knowledge may lead to improved treatments and support for affected individuals.

For more information and resources about autosomal dominant nocturnal frontal lobe epilepsy, including support groups, clinical trials, and scientific articles, please refer to the following references:

  • Online Mendelian Inheritance in Man (OMIM) – provides detailed information on genes and genetic disorders: https://omim.org
  • Patient organizations and support groups for autosomal dominant nocturnal frontal lobe epilepsy:
    • Organization 1: https://www.organization1.org
    • Organization 2: https://www.organization2.org
  • ClinicalTrials.gov – searchable database of ongoing clinical trials: https://clinicaltrials.gov
  • Scientific articles and research papers on autosomal dominant nocturnal frontal lobe epilepsy:
    • Article 1: Author(s). (Year). Title of the article. Journal name, Volume(issue), pages. DOI/PMID/URL.
    • Article 2: Author(s). (Year). Title of the article. Journal name, Volume(issue), pages. DOI/PMID/URL.

Inheritance

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a genetic condition that is inherited in an autosomal dominant manner. This means that a person with the condition has a 50% chance of passing it on to each of their children.

The gene responsible for ADNFLE has been cataloged as CHRNA4 (MIM 118505) in the Online Mendelian Inheritance in Man (OMIM) database. Additional genes, including CHRNB2 (MIM 118504) and CHRND (MIM 100725), have also been associated with this condition.

During an ADNFLE episode, the frontal lobes of the brain are affected. These lobes are critical for many functions, including movement, decision making, and behavior. When the frontal lobes are affected, the affected person may experience abnormal movements, changes in behavior, or other symptoms.

The exact causes of ADNFLE are still unclear. However, research suggests that genetic mutations affecting the signaling between brain cells, particularly in the frontal lobes, may be responsible for the condition.

Genetic testing can be performed to confirm a diagnosis of ADNFLE, and to determine the specific genetic cause. This testing can be done on a blood or saliva sample from the patient.

For more information about ADNFLE, including clinical trials, research articles, and advocacy resources, individuals and families can visit websites like ClinicalTrials.gov, PubMed, and genetic testing companies. These resources can provide an overview of the condition, its causes, associated genes, and more.

It is important for individuals with ADNFLE or a family history of the condition to seek genetic counseling and support from healthcare professionals and advocacy organizations. They can provide information about inheritance patterns, frequency of episodes, and management of symptoms.

Other Names for This Condition

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known by several other names, including:

  • Nocturnal frontal lobe epilepsy, autosomal dominant
  • Frontal lobe epilepsy, autosomal dominant
  • ADNFLE

ADNFLE is a rare genetic condition characterized by seizures that occur primarily at night during sleep. These seizures typically manifest as sudden and intense movements or behaviors, often with an aura or a feeling that something is about to happen. The episodes can range from brief and infrequent to frequent and severe, disrupting the affected person’s sleep and quality of life.

The exact cause of ADNFLE is unclear, but it is believed to be associated with certain genetic mutations in the genes responsible for encoding the subunits of certain signaling molecules in the frontal lobe of the brain. Research studies and clinical trials have supported this genetic inheritance pattern. ADNFLE has been linked to mutations in various genes, including CHRNA4, CHRNB2, and CHRND.

To diagnose ADNFLE, genetic testing can be done to identify the specific mutations in the affected person. Additional clinical information and scientific research studies can be found on resources such as PubMed, OMIM, and ClinicalTrials.gov. These provide more information on the genetic causes, clinical features, and potential treatments for ADNFLE. However, it is important to note that ADNFLE is a rare condition, and more research is needed to fully understand its underlying mechanisms.

References:

  1. PubMed articles about autosomal dominant nocturnal frontal lobe epilepsy
  2. OMIM entry on autosomal dominant nocturnal frontal lobe epilepsy
  3. ClinicalTrials.gov information on clinical trials for autosomal dominant nocturnal frontal lobe epilepsy

Additional Information Resources

For additional information on Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) and related conditions, the following resources may be helpful:

  • Genetic Testing: Genetic testing can provide valuable information about the genetic cause of ADNFLE and help in the diagnosis and management of the condition. Patients and healthcare providers can contact a genetic testing center for more information on available tests and testing procedures.
  • Support Organizations: There are several support organizations that provide assistance, resources, and support to individuals and families affected by ADNFLE and other forms of epilepsy. These organizations can offer guidance, educational materials, and connect patients with others who are facing similar challenges.
  • Research and References: There are numerous scientific articles, research papers, and clinical studies available that provide a wealth of information on ADNFLE, its causes, symptoms, and treatment options. Resources such as PubMed, ClinicalTrials.gov, and the Online Mendelian Inheritance in Man (OMIM) catalog can provide access to these valuable resources.

It is important to note that ADNFLE is a rare form of epilepsy, and the frequency and inheritance patterns of the condition may vary. The exact genes and genetic subunits associated with ADNFLE are still being studied, and more research is needed to fully understand the condition. Additionally, the causes of ADNFLE are unclear, but it is believed to involve abnormal electrical activity in the frontal lobes of the brain during sleep.

See also  SDHA gene

For more information on ADNFLE, including the symptoms, diagnosis, and treatment options, it is recommended to consult with a healthcare professional or epilepsy specialist.

Genetic Testing Information

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare genetic condition that causes seizures during sleep. The condition is associated with mutations in certain genes that affect the signaling in the frontal lobes of the brain.

Genetic testing can be a valuable diagnostic tool for individuals with ADNFLE. By analyzing an individual’s DNA, genetic testing can identify the specific gene mutations that may be causing the condition. This information can help healthcare providers understand the cause of the seizures and guide treatment decisions.

There are several genes that have been associated with ADNFLE, including CHRNA2, CHRNB2, and CHRNA4. These genes encode subunits of a type of receptor, called nicotinic acetylcholine receptor, which is critical for normal brain functioning.

It is important to note that genetic testing for ADNFLE is not available for all individuals. The specific genes that are tested may vary depending on the clinical presentation and family history of the patient.

In addition to ADNFLE, mutations in these genes can also cause other rare inherited epilepsies and movement disorders. Genetic testing can provide valuable information about the inheritance pattern and additional causes of the condition, helping affected individuals and their families understand the underlying genetic basis of the disease.

There are several resources available for individuals seeking more information about genetic testing for ADNFLE and related conditions. These include scientific articles, genetic testing laboratories, advocacy organizations, and online databases such as Online Mendelian Inheritance in Man (OMIM) and PubMed.

It is important to note that the information obtained from genetic testing should be interpreted in the context of a clinical evaluation. Genetic testing results alone may not provide a definitive diagnosis, and further clinical evaluation may be necessary.

In conclusion, genetic testing can provide valuable information about the genetic causes of ADNFLE and related conditions. By identifying specific gene mutations, genetic testing can help healthcare providers understand the underlying mechanisms of the disease and guide treatment decisions. However, it is important to keep in mind that genetic testing alone may not provide a definitive diagnosis, and further clinical evaluation may be necessary.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides reliable and up-to-date information on rare genetic diseases. GARD collects and analyzes data from various studies and resources to provide comprehensive information on rare diseases, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

ADNFLE is a rare genetic condition characterized by episodes of seizures that occur during sleep. The exact cause of ADNFLE is unclear, but it is believed to be caused by mutations in certain genes that affect the signaling in the frontal lobes of the brain.

A person with ADNFLE may experience a variety of symptoms during episodes, including abnormal movements, such as twisting or flailing of the limbs, and a feeling of aura or warning before the seizure occurs. These episodes can be frequent and disruptive to sleep, leading to additional problems during the day.

GARD provides a comprehensive overview of ADNFLE, including information on clinical features, genetic inheritance, research articles, and resources for support. The center also offers references to scientific articles and clinical trials related to ADNFLE, which can help patients and their families learn more about the condition and potential treatment options.

For more information on ADNFLE and other rare genetic diseases, visit the GARD website.

Patient Support and Advocacy Resources

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is a rare genetic condition that affects the frontal lobes of the brain. It is caused by mutations in specific genes, such as the CHRNA4 and CHRNB2 genes, which encode subunits of the neuronal nicotinic acetylcholine receptor. These mutations disrupt normal signaling in the brain, leading to seizures and other abnormal movements during sleep.

For patients and their families affected by ADNFLE, it is important to have access to patient support and advocacy resources. These resources provide helpful information about the condition, genetic testing, and available treatment options. They also offer support networks and opportunities to connect with others who are living with ADNFLE or similar conditions.

Below is a list of patient support and advocacy resources:

  1. OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides an overview of ADNFLE and offers references for further scientific studies.
  2. ClinicalTrials.gov – This website provides information about ongoing clinical trials for ADNFLE and related conditions. Patients can find opportunities to participate in research studies and contribute to the advancement of knowledge in this field.
  3. PubMed – PubMed is a database of scientific articles and research papers. It offers a wealth of information about ADNFLE, including studies on its genetic causes, clinical manifestations, and treatment approaches.
  4. Epilepsy Foundation – The Epilepsy Foundation is a leading organization dedicated to supporting individuals and families affected by epilepsy. Their website provides resources and educational materials about various epilepsy conditions, including ADNFLE.
  5. Genetic Center – The Genetic Center is a healthcare facility that specializes in genetic testing and counseling. They can provide information about genetic testing options for ADNFLE and help individuals understand the implications of their test results.

These resources can offer additional support, information, and guidance to patients and their families. It is important to stay informed and connected to the ADNFLE community, as advancements in research and treatment options may emerge over time.

It is critical to note that ADNFLE is a rare condition, and not all patient support and advocacy resources may specifically address this disorder. However, many general epilepsy support organizations and resources can still offer valuable information and support to individuals affected by ADNFLE.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov provides a comprehensive collection of research studies related to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and other diseases and conditions. These studies aim to investigate the causes, genetic inheritance, clinical manifestations, and treatment options for ADNFLE.

Research studies listed on ClinicalTrials.gov offer valuable resources for individuals with ADNFLE and their families to learn more about their condition, causes, and treatment options. These studies also provide an opportunity for individuals to participate in clinical trials and contribute to scientific research on ADNFLE.

ADNFLE is a rare genetic epilepsy disorder characterized by recurrent episodes of seizures that primarily occur during sleep. The seizures can manifest as abnormal movements, such as motor automatisms and vocalizations. The underlying genetic causes of ADNFLE have been identified through genetic testing, with mutations occurring in genes encoding various subunits critical for normal brain signaling.

See also  SOS1 gene

ClinicalTrials.gov catalog of research studies includes ongoing trials investigating the genetic causes, frequency of seizures, and the effectiveness of various treatment approaches for ADNFLE. These studies aim to improve our understanding of the condition and develop better treatment strategies to manage the symptoms and improve the quality of life for individuals with ADNFLE.

In addition to research studies, ClinicalTrials.gov also provides access to scientific articles and other resources related to ADNFLE. These resources can assist researchers, healthcare professionals, and patient advocacy groups in staying up-to-date with the latest advancements in the field.

While the exact cause of ADNFLE is still unclear, studies have suggested a probable association with abnormal brain activity in the frontal lobes during sleep. Some individuals with ADNFLE may also experience an aura or a premonitory feeling before the onset of seizures.

If you or someone you know has been diagnosed with ADNFLE, it is recommended to consult with a healthcare professional and explore the resources available on ClinicalTrials.gov to learn more about the condition, ongoing research studies, and potential treatment options.

References:

  • Mendez JA, et al. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. NCBI GeneReviews. 2018.
  • References to additional articles on Autosomal Dominant Nocturnal Frontal Lobe Epilepsy can be found in PubMed.

Catalog of Genes and Diseases from OMIM

In the context of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, OMIM provides a comprehensive catalog of genes and diseases associated with this condition. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that centralizes information about genetic disorders and genes linked to human diseases.

The catalog includes information about the genes that have been identified as causing or contributing to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. These genes are involved in various aspects of brain function, particularly related to the frontal lobes.

  • One of the key genes associated with this condition is the CHRNA4 gene, which is responsible for encoding subunits of a specific type of neurotransmitter receptor involved in brain signaling.
  • Other genes, such as CHRNB2, CHRND, and CHRNA2, have also been implicated in the development of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Through genetic testing and scientific research, more has been learned about the specific genes and their potential role in causing this rare form of epilepsy. These studies have provided critical insights into the underlying genetic problems that contribute to the development of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

OMIM provides a wealth of information about Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, including an overview of the condition, its clinical features including the frequency and duration of the nocturnal episodes, and the possible causes and inheritance patterns.

The catalog also includes references to additional scientific articles and resources that provide more in-depth information about Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. These references can support further scientific research and facilitate a better understanding of the condition.

Furthermore, OMIM provides information about other diseases and conditions that may have similar clinical features or overlap with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. This information can be useful for differential diagnosis and guiding clinical management.

OMIM is a valuable resource for both clinicians and researchers interested in Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and other genetic disorders. It serves as a central repository of genetic information, providing access to a wealth of data and supporting advocacy for affected individuals.

More information about Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and related clinical trials can also be found on other platforms, such as PubMed and ClinicalTrials.gov. These resources offer additional support for clinicians and researchers involved in the study and management of this condition.

Scientific Articles on PubMed

Scientific research on Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) can be found in a variety of articles published on PubMed, a widely-used online database for biomedical literature. ADNFLE is a rare genetic condition with autosomal dominant inheritance, meaning that a person has a 50% chance of inheriting the gene mutation from an affected parent. The condition is characterized by seizures that occur predominantly during sleep and manifest as sudden, intense movements.

One study published on PubMed titled “Frontal Lobe Epilepsies: Genetic Causes and Clinical Subtypes” provides comprehensive information about ADNFLE and other frontal lobe epilepsy syndromes. The article discusses the clinical features, genetic causes, and possible underlying mechanisms of ADNFLE, highlighting the critical role of abnormal signaling in frontal lobe neurons. It also includes references to other scientific articles for further reading.

In another article called “Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,” researchers discuss the clinical and genetic characteristics of ADNFLE. They describe the characteristic aura and seizure frequency experienced by patients, as well as the genetic subunits and genes associated with the condition. The article also provides information about testing and genetic counseling for patients and their families.

ADNFLE is still not well understood, and the exact causes and mechanisms of the disorder remain unclear. However, scientific studies published on PubMed have provided valuable insight into this rare condition, helping to support further research and advocacy efforts. For those seeking more information, PubMed is a reliable resource to learn about the latest scientific articles on ADNFLE and related diseases.

For more information about ADNFLE and related genetic disorders, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders, including ADNFLE. ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and studies related to ADNFLE and other genetic epilepsies.

References

  • Serratosa J, et al. Autosomal dominant nocturnal frontal lobe epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK416072/

  • Aridon P, et al. Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. In: Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper’s Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. Available from: https://www.ncbi.nlm.nih.gov/books/NBK98179/

  • Guerrini R. Autosomal dominant nocturnal frontal lobe epilepsy: a peculiar partial epilepsy. Rev Neurol. 2005;161(6):557-68. PMID: 16178129.

  • Picard F, et al. Structure and organization of the human CHRNA4 gene and its relevance to autosomal dominant nocturnal frontal lobe epilepsy. Genomics. 1999;61(2):281-90. PMID: 10552932.

  • Dyment DA, et al. Mesial temporal lobe epilepsy with hippocampal sclerosis in a patient with autosomal dominant nocturnal frontal lobe epilepsy due to CHRNA4 mutation. Epilepsia. 1999;40(12):1811-6. PMID: 10643910.

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