Lennox-Gastaut syndrome

Title

Other Names:

Encephalopathy of childhood; Epileptic encephalopathy Lennox-Gastaut type

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability.^[1] This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found.^[1]^[2] Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.^[2]

Last updated: 9/17/2013

Symptoms Symptoms

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 40 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
EEG with focal sharp slow waves		0011195
Encephalopathy		0001298
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
30%-79% of people have these symptoms
Abnormality of brainstem morphology	Abnormal shape of brainstem	0002363
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Atonic seizures		0010819
Atypical absence seizures		0007270
Autistic behavior		0000729
Falls		0002527
Generalized tonic seizures		0010818
Generalized tonic-clonic seizures	Grand mal seizures	0002069
Hyperactivity	More active than typical	0000752
Mental deterioration	Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ]	0001268
Myoclonus		0001336
Personality disorder		0012075
5%-29% of people have these symptoms
Focal-onset seizure		0007359
Generalized myoclonic seizures		0002123
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Abnormality of the periventricular white matter		0002518
Autosomal recessive inheritance		0000007
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Enlarged cisterna magna		0002280
Epileptic encephalopathy		0200134
Frontotemporal cerebral atrophy		0006892
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Gingival overgrowth	Gum enlargement	0000212
Global developmental delay		0001263
High forehead		0000348
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Progressive	Worsens with time	0003676
Ptosis	Drooping upper eyelid	0000508
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Tented upper lip vermilion		0010804

Showing of 40 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.

Treatment Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Rufinamide (Brand name: Banzel) - Manufactured by Eisai Medical Research, Inc.
FDA-approved indication: Adjunctive therapy of seizures associated with Lennox-Gastaut syndrome
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Cannabidiol (Brand name: Epidiolex) - Manufactured by GW Pharma Ltd.
FDA-approved indication: June 2018, cannabidiol (Epidiolex) was approved for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) or Dravet syndrome (DS) in patients 2 years of age and older. Since CBD is a derivative of marijuana which is a controlled substance, availability is pending review by the DEA (US Drug Enforcement Agency). Even upon DEA rescheduling, availability may be dependent on laws of individual States.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Felbamate (Brand name: Felbatol®) - Manufactured by Meda Pharmaceuticals Inc.
FDA-approved indication: As adjunctive therapy in the treatment of partial and generalized seizures associated with the Lennox-Gastaut syndrome in children.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
perampanel (Brand name: Fycompa) - Manufactured by Eisai, Inc.
FDA-approved indication: Treatment of Lennox-Gastaut Syndrome. Treatment of partial-onset seizures with or without secondarily generalized seizures in patients with epilepsy 12 years of age and older and as adjunctive therapy for the treatment of primary generalized tonic-clonic seizures in patients with epilepsy 12 years of age and older.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Lamotrigine (Brand name: Lamictal®) - Manufactured by Glaxo Wellcome Research and Development
FDA-approved indication: Adjunctive treatment of Lennox-Gastaut syndrome in pediatric and adult patients.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Topiramate (Brand name: Topamax®) - Manufactured by Ortho-McNeil Neurologics
FDA-approved indication: As adjunctive therapy in patients two years and older with siezures associated with Lennox-Gastaut syndrome.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Prognosis Prognosis

While we were unable to locate data describing a life expectancy, the mortality rate associated with Lennox-Gastaut syndrome ranges from 3 to 7%.^[3] People with Lennox-Gastaut syndrome have an increased risk of death compared to their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.^[1]

Last updated: 9/17/2013

Find a Specialist Find a Specialist

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 Genetics Home Reference.

Related Diseases Related Diseases

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
All the epilepsies with frequent and brief seizures (``minor motor seizures''), occurring in childhood should be considered with myoclonic epilepsies, benign atypical partial epilepsy of childhood, epilepsy absence with tonic or atonic component, ESES syndrome, Landau-Kleffener syndrome, multifocal severe epilepsy, Rett syndrome, Angelman syndrome, and ceroid lipofuscinoses (see these terms) being included in the differential diagnosis. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

All the epilepsies with frequent and brief seizures (``minor motor seizures''), occurring in childhood should be considered with myoclonic epilepsies, benign atypical partial epilepsy of childhood, epilepsy absence with tonic or atonic component, ESES syndrome, Landau-Kleffener syndrome, multifocal severe epilepsy, Rett syndrome, Angelman syndrome, and ceroid lipofuscinoses (see these terms) being included in the differential diagnosis.

Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Lennox-Gastaut syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

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 Foundation
8301 Professional Place East
Suite 200
Landover, MD 20785
Toll-free: 800-EFA-1000 (800-332-1000)
Telephone: 301-459-3700
Fax: 301-577-2684
E-mail: contactus@efa.org
Website: http://www.epilepsy.com
International Foundation for CDKL5 Research
P.O. Box 926
Wadsworth, OH 44282
Telephone: 330-612-2751
E-mail: http://www.cdkl5.com/Contact/Default.aspx
Website: http://www.cdkl5.com
LGS Foundation
192 Lexington Avenue
Suite 216
New York, NY 10016
Telephone: 718-374-3800
E-mail: info@lgsfoundation.org
Website: http://lgsfoundation.org/index.html

Do you know of an organization? We want to hear from you.

Learn More Learn More

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 (GHR) contains information on Lennox-Gastaut syndrome. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Lennox-Gastaut syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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

Is there a life expectancy for Lennox-Gastaut syndrome? See answer

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References References

Lennox-Gastaut syndrome. Genetics Home Reference (GHR). July 2010; http://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome. Accessed 9/17/2013.
NINDS Lennox-Gastaut Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). July 31, 2013; http://www.ninds.nih.gov/disorders/lennoxgastautsyndrome/lennoxgastautsyndrome.htm. Accessed 9/17/2013.
Frequently Asked Questions. LGS Foundation. June 2010; http://www.adultsandlgs.org/faq.html. Accessed 9/17/2013.

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