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Disease Profile
Lennox-Gastaut syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
15/100,000
Age of onset
Childhood
ICD-10
G40.81
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Encephalopathy of childhood; Epileptic encephalopathy Lennox-Gastaut type
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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 antiepileptic 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]
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.
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 seizure | 0010819 | |
Atypical absence seizure | 0007270 | |
Autistic behavior | 0000729 | |
Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
Falls | 0002527 | |
Generalized tonic seizure | 0010818 | |
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 |
Seizure affecting one half of brain
|
0007359 |
Generalized myoclonic seizure | 0002123 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
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 |
Psychomotor retardation | 0025356 | |
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 |
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
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 Jazz Pharmaceuticals, Inc.
FDA-approved in 2018, EPIDIOLEX is a plant-derived cannabis-based medicine administered as an oral solution that contains highly purified cannabidiol (CBD). Epidiolex is structurally distinct from other AEDs with efficacy in multiple seizure types across TSC, LGS, and Dravet syndrome. Epidiolex is the only FDA-approved treatment indicated for seizures associated with TSC, LGS, and Dravet syndrome in patients 1 year and older.
CBD is a chemical component of the Cannabis sativa plant. However, CBD does not cause intoxication or euphoria (the “high”) that comes from tetrahydrocannabinol (THC). It is THC (and not CBD) that is the primary psychoactive component of cannabis.
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 - Fenfluramine HCI(Brand name: Fintepla) Manufactured by Zogenix, Inc
FDA-approved indication: Fintepla (fenfluramine) is indicated for the treatment of seizures associated with Lennox-Gastaut syndrome in patients 2 years of age and older.
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.
|
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
-
International Foundation for CDKL5 Research (IFCR)
P.O. Box 926
Wadsworth, OH 44282
Telephone: +1-330-294-5005
E-mail: [email protected]
Website: https://www.cdkl5.com/ -
LGS Foundation
192 Lexington Avenue
Suite 216
New York, NY 10016
Telephone: 718-374-3800
E-mail: [email protected]
Website: https://www.lgsfoundation.org/
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: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
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.
References
- Lennox-Gastaut syndrome. Genetics Home Reference (GHR). September, 2018; https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome.
- NINDS Lennox-Gastaut Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). August 27, 2018; https://www.ninds.nih.gov/disorders/all-disorders/lennox-gastaut-syndrome-information-page.
- Frequently Asked Questions. LGS Foundation. June 2010; https://www.adultsandlgs.org/faq.html. Accessed 9/17/2013.