Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://covid19.nih.gov (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Autosomal dominant nocturnal frontal lobe epilepsy
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Diagnosis
    • Find a Specialist
    • Related Diseases
    • Organizations
    • Learn More
    • News & Events
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Autosomal dominant nocturnal frontal lobe epilepsy


Title


How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:
ADNFLE; Epilepsy, nocturnal frontal lobe, 1; ENFL1; ADNFLE; Epilepsy, nocturnal frontal lobe, 1; ENFL1; Autosomal dominant sleep-related hypermotor epilepsy See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


Listen
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age.[1][2] It is diagnosed based on symptoms and the results of tests such as an EEG. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In most cases however, the genetic cause is not found. Seizures can usually be controlled with anti-seizure medications.[2]
Last updated: 7/22/2015

Symptoms Symptoms


Listen
The main symptom in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is seizures that generally occur at night. Seizures may begin anywhere from early childhood to adulthood, but most often begin in childhood.[3][4] Seizures may last from a few seconds to a few minutes.[1] The frequency of seizures varies from several per year to several per night.[3] Seizures may become less frequent or more mild as a person gets older.[1] Some people with ADNFLE occasionally have seizures while they are awake.[4] 

When a person with ADNFLE is having a seizure, they may experience a variety of movement-related symptoms ranging from mild to severe. Examples include:[1][3][4]
  • Short bursts of random, repetitive movements of the limbs, trunk, or head, lasting 2 to 4 seconds.
  • Brief, sudden arousal (waking), sometimes with repetitive movements, making sounds, crying, or feelings of fear.
  • Major attacks lasting 20 to 30 seconds, characterized by extreme stiffening of muscles, or movements such as pelvic thrusting, pedaling, twisting and writhing, or fast, forceful motions of the limbs.
Recurring episodes of exertion during the night may lead to sleepiness during the day.[4]

Most people with ADNFLE have normal intellect (thinking abilities), but in some cases, intellect is reduced. Some people with ADNFLE also have psychiatric disorders or behavior problems, but it is unclear if these are directly related to ADNFLE.[1][3]
Last updated: 7/22/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 5 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Childhood onset
Symptoms begin in childhood
0011463
Focal-onset seizure
Seizure affecting one half of brain
0007359
Incomplete penetrance 0003829
Showing of 5 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


Listen
A diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made based on signs and symptoms. In addition to the doctor taking a detailed medical and family history from the person with symptoms, obtaining information from others who see episodes occur is very helpful. In some cases, video-EEG monitoring during sleep is needed.

The features that suggest a diagnosis of ADNFLE include:
  • Clusters of seizures that occur mainly during sleep.
  • A normal neurologic exam and normal findings on brain imaging tests.
  • A normal EEG recorded during a seizure (ictal EEG), or one that is obscured by movement of the cables or electrodes.
  • An EEG recorded between seizures (interictal EEG) that shows few or no instances of patterns seen in people with epilepsy.
  • The presence of the same disorder in other family members, with evidence of autosomal dominant inheritance.
If ADNFLE is suspected, genetic testing may be ordered. However, genetic testing can confirm the diagnosis in only 20% of people with a family history of ADNFLE, and in fewer than 5% of people with no family history.[2]
Last updated: 1/17/2018

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


Listen

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include paroxysmal dyskinesia, familial focal epilepsy with variable foci, restless legs syndrome, periodic limb movement disorders (PLMS), REM sleep behavior disorders (RBD), nocturnal panic attacks, non-REM parasomnias, obstructive sleep apnea syndrome, and arousal disorders.
Visit the Orphanet disease page for more information.

Organizations Organizations


Listen

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Epilepsy Action
    New Anstey House Gate Way Drive
    Yeadon, LEEDS LS19 7XY
    United Kingdom
    Telephone: 0113 210 8800 (UK) or +44 (0)113 210 8800 (international)
    Fax: 0113 391 0300 (UK) or +44 (0)113 391 0300 (international)
    E-mail: epilepsy@epilepsy.org.uk
    Website: https://www.epilepsy.org.uk/

Organizations Providing General Support

  • Epilepsy Foundation
    8301 Professional Place East
    Suite 230
    Landover, MD 20785
    Toll-free: 800-332-1000 (24/7 Helpline)
    Telephone: +1-301-459-3700
    Fax: +1-301-577-2684
    E-mail: contactus@efa.org
    Website: https://www.epilepsy.com/
    en Español 1-866-748-8008
Do you know of an organization? We want to hear from you.

Learn More Learn More


Listen

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference contains information on Autosomal dominant nocturnal frontal lobe epilepsy. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events


Listen

News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I jump in my sleep every night. Is this a sign that I have autosomal dominant nocturnal frontal lobe epilepsy? Some nights it is worse than others. I actually raise off of the bed. See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. ADNFLE. Genetics Home Reference. April, 2009; http://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy.
  2. Hirokazu Kurahashi and Shinichi Hirose. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. GeneReviews. February 19, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1169/.
  3. Hirose S, Kurahashi H. Autosomal dominant nocturnal frontal lobe epilepsy. Orphanet. December, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784.
  4. Nobili L, Proserpio P, Combi R, et al. Nocturnal Frontal Lobe Epilepsy. Current Neurology and Neuroscience Reports. February, 2014; 14:424. https://link.springer.com/article/10.1007%2Fs11910-013-0424-6#Sec5.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen