Benign familial infantile seizures (BFIS) is a type of seizure disorder that affects young children, typically between 3 and 24 months of age. Seizures are when the body has sudden movements and changes in breathing. They can happen in clusters over a day or several days. Seizures start with the head and eyes moving slowly to one side and then progress to the body stopping moving and breathing. The body may also turn blue and have jerking movements. After the seizure, the baby will be normal again. The EEG test may show that there was unusual activity in a specific part of the brain during a seizure, but the brain activity was normal when there was no seizure. However, the person's mental and physical development was normal during and after the seizure. BFIS is a genetic disorder, and there are different types caused by variations in different genes. BFIS1 is caused by a mutation in a gene on chromosome 19q. BFIS2 is caused by a mutation in the PRRT2 gene on chromosome 16p11. BFIS3 is caused by mutations in the SCN2A gene on chromosome 2q24 and has a slightly earlier age at onset. BFIS4 has been mapped to chromosome 1p, and BFIS5 is caused by a mutation in the SCN8A gene on chromosome 12q13. BFIS6 is caused by a mutation in the CHRNA2 gene on chromosome 8p21.
Summary
Benign familial infantile seizures (BFIS) is a type of seizure disorder that affects young children, typically between 3 and 24 months of age. Seizures are when the body has sudden movements and changes in breathing. They can happen in clusters over a day or several days. Seizures start with the head and eyes moving slowly to one side and then progress to the body stopping moving and breathing. The body may also turn blue and have jerking movements. After the seizure, the baby will be normal again. The EEG test may show that there was unusual activity in a specific part of the brain during a seizure, but the brain activity was normal when there was no seizure. However, the person's mental and physical development was normal during and after the seizure. BFIS is a genetic disorder, and there are different types caused by variations in different genes. BFIS1 is caused by a mutation in a gene on chromosome 19q. BFIS2 is caused by a mutation in the PRRT2 gene on chromosome 16p11. BFIS3 is caused by mutations in the SCN2A gene on chromosome 2q24 and has a slightly earlier age at onset. BFIS4 has been mapped to chromosome 1p, and BFIS5 is caused by a mutation in the SCN8A gene on chromosome 12q13. BFIS6 is caused by a mutation in the CHRNA2 gene on chromosome 8p21.Benign familial infantile seizures (BFIS) is a type of seizure disorder that affects young children, typically between 3 and 24 months of age. Seizures are when the body has sudden movements and changes in breathing. They can happen in clusters over a day or several days. Seizures start with the head and eyes moving slowly to one side and then progress to the body stopping moving and breathing. The body may also turn blue and have jerking movements. After the seizure, the baby will be normal again. The EEG test may show that there was unusual activity in a specific part of the brain during a seizure, but the brain activity was normal when there was no seizure. However, the person's mental and physical development was normal during and after the seizure. BFIS is a genetic disorder, and there are different types caused by variations in different genes. BFIS1 is caused by a mutation in a gene on chromosome 19q. BFIS2 is caused by a mutation in the PRRT2 gene on chromosome 16p11. BFIS3 is caused by mutations in the SCN2A gene on chromosome 2q24 and has a slightly earlier age at onset. BFIS4 has been mapped to chromosome 1p, and BFIS5 is caused by a mutation in the SCN8A gene on chromosome 12q13. BFIS6 is caused by a mutation in the CHRNA2 gene on chromosome 8p21.
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Resource(s) for Medical Professionals and Scientists on This Disease:
RARe-SOURCE™offers rare disease gene variant annotations and links to rare disease gene literature.
About Benign familial neonatal-infantile seizures 1
Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:
Population Estimate:This section is currently indevelopment.
Symptoms:This section is currently in development.
Cause:GARD does not currently have information about the cause of this disease.
Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
Causes
GARD does not currently have information about the cause of this disease.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current data, this disease can be inherited in the following pattern(s):
Autosomal Dominant
Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.
People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.
When Do Symptoms of Benign familial neonatal-infantile seizures 1 Begin?
This section is currently in development.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Respiratory System Respiratory System
6 Symptoms
6 Symptoms
6 Symptoms
Respiratory System
The respiratory system is made up of the lungs and the nose, mouth, throat, voice box, windpipe, diaphragm, and muscles of the chest wall. This system controls breathing, providing the body with oxygen and getting rid of carbon dioxide. Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist.
Medical Term
Apnea
Frequency: Not Applicable or Unknown
Frequency
Not Applicable or Unknown
Uncommon
Always
Description
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Synonym
Absence of spontaneous respiration; Apneic episodes; Apnoea
On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:
Find disease-specific information to discuss with your healthcare providers.
Ask for diagnostic tests.
Request referrals to specialists.
Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis
Your Diagnostic Team
How can a diagnostic team help?
Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
Use this tool to find hospitals that may partner with medical schools and programs in your area.
Multidisciplinary Care Centers
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
Use this tool to find hospitals that may partner with medical schools and programs in your area.
Rare Disease Experts
How can you find a rare disease expert?
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Benign familial neonatal-infantile seizures 1:
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Benign familial neonatal-infantile seizures 1:
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
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What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Mondo Disease Ontology provides a logic-based structure unifying multiple disease resources in coordination with the Human Phenotype Ontology (HPO) and support from the NIH National Human Genome Research Institute Phenomics First Resource.
GARD uses the Human Phenotype Ontology (HPO) for standard terminology to represent a disease's phenotypic and clinical features.
