LGS
MCID: LNN001
MIFTS: 61

Lennox-Gastaut Syndrome (LGS)

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lennox-Gastaut Syndrome

MalaCards integrated aliases for Lennox-Gastaut Syndrome:

Name: Lennox-Gastaut Syndrome 12 73 20 43 53 58 36 54 6 15 70
Epileptic Encephalopathy Lennox-Gastaut Type 20 29 6
Lennox Syndrome 12 70
Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves 43
Encephalopathy of Childhood 20
Lgs 43

Characteristics:

Orphanet epidemiological data:

58
lennox-gastaut syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050561
KEGG 36 H01813
MESH via Orphanet 45 C535500
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 71 C0238111
Orphanet 58 ORPHA2382
UMLS 70 C0238111 C0598392

Summaries for Lennox-Gastaut Syndrome

MedlinePlus Genetics : 43 Lennox-Gastaut syndrome is a severe condition characterized by recurrent seizures (epilepsy) that begin early in life. Affected individuals have multiple types of seizures, a particular pattern of brain activity (called slow spike-and-wave) measured by a test called an electroencephalogram (EEG), and impaired mental abilities.In Lennox-Gastaut syndrome, epilepsy begins in early childhood, usually between ages 3 and 5. The most common seizure type is tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures typically occur during sleep; they may also occur during wakefulness and cause sudden falls. Also common are atypical absence seizures, which cause a very brief partial or complete loss of consciousness. Additionally, many affected individuals have episodes called drop attacks, which cause sudden falls that can result in serious or life-threatening injuries. Drop attacks may be caused by sudden loss of muscle tone (described as atonic) or by abnormal muscle contraction (described as tonic). Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Seizures associated with Lennox-Gastaut syndrome often do not respond well to therapy with anti-epileptic medications.Although each seizure episode associated with Lennox-Gastaut syndrome is usually brief, more than two-thirds of affected individuals experience prolonged periods of seizure activity (known as status epilepticus) or episodes of many seizures that occur in a cluster.Most children with Lennox-Gastaut syndrome have intellectual disability or learning problems even before seizures begin. These problems may worsen over time, particularly if seizures are very frequent or severe. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and intellectual disability, most people with Lennox-Gastaut syndrome require help with the usual activities of daily living. However, a small percentage of affected adults live independently.People with Lennox-Gastaut syndrome have a higher risk of death than 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.

MalaCards based summary : Lennox-Gastaut Syndrome, also known as epileptic encephalopathy lennox-gastaut type, is related to early infantile epileptic encephalopathy and seizure disorder, and has symptoms including hemiplegia An important gene associated with Lennox-Gastaut Syndrome is CHD2 (Chromodomain Helicase DNA Binding Protein 2), and among its related pathways/superpathways are GABAergic synapse and L1CAM interactions. The drugs Melatonin and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, and related phenotypes are intellectual disability and encephalopathy

Disease Ontology : 12 A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.

GARD : 20 Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. 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. 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.

NINDS : 53 Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures begin in early childhood, usually before the age of 4 years. Children, adolescents, and adults with Lennox-Gastaut syndrome have multiple types of seizures that vary among individuals. Common seizure types include: tonic seizures (stiffening of the body, upward eye gaze, dilated pupils, and altered breathing patterns) atypical absences (staring spells) atonic seizures (brief loss of muscle tone, which could cause abrupt falls) myoclonic seizures (sudden muscle jerks), and generalized tonic-clonic seizures (muscle stiffness and rhythmic jerking). There may be periods of frequent seizures mixed with relatively seizure-free periods. Although not always present at the onset of seizures, most people with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays and behavioral disturbances. A particular patten of brain electric activity can be seen using electroencephalogram (EEG). Lennox-Gastaut syndrome can be caused by a variety of conditions, including brain malformations, tuberous sclerosis, perinatal asphyxia, severe head injury, central nervous system infection, and inherited genetic and inherited degenerative or metabolic conditions. In 30-35 percent of individuals, no cause can be found.

KEGG : 36 Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures during sleep are the feature often used as the foundation for diagnosis. LGS is characterized by multiple concurrent seizure types, including tonic, atypical absence seizures, atonic, and myoclonic jerks. Non-convulsive status epilepticus, lasting days to weeks, occurs in half of patients. The etiology of LGS is heterogeneous and includes both genetic and acquired causes. LGS most commonly first manifests in children between 3 and 5 years of age, but onset can also occur at younger and older ages. It has been reported that 20-36% of children diagnosed with LGS syndrome have a history of West syndrome.

Wikipedia : 73 Lennox-Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy. It is... more...

Related Diseases for Lennox-Gastaut Syndrome

Diseases related to Lennox-Gastaut Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 32.2 ST3GAL3 SCN1A POMC POLG PCDH19 KCNQ3
2 seizure disorder 32.1 SCN1A POLG PCDH19 KCNQ3 GABRG2 DNM1
3 encephalopathy 32.1 SCN1A POLG PCDH19 CHD2 CACNA1A
4 west syndrome 31.8 ST3GAL3 SCN1A POMC PCDH19 MT-ND1 KCNQ3
5 status epilepticus 31.8 SCN1A POLG PCDH19 CACNA1A
6 epilepsy 31.6 ZEB2 ST3GAL3 SCN1A POLG PCDH19 KCNQ3
7 dravet syndrome 31.6 SCN1A PCDH19 KCNQ3 GABRG2 GABRB3 CHD2
8 alacrima, achalasia, and mental retardation syndrome 31.6 ZEB2 SCN1A KCNQ3 GABRG2 GABRB3 CHD2
9 epilepsy with myoclonic-atonic seizures 31.4 SCN1A CHD2
10 myoclonic epilepsy of infancy 31.1 SCN1A GABRG2
11 epilepsy, idiopathic generalized 31.1 SCN1A POLG PCDH19 KCNQ3 GABRG2 GABRB3
12 pachygyria 31.1 DCX ADGRG1
13 autism 31.0 SCN1A POMC PCDH19 KCNQ3 GABRG2 GABRB3
14 early myoclonic encephalopathy 31.0 SCN1A POLG PCDH19 KCNQ3 GABRG2 GABRB3
15 landau-kleffner syndrome 30.8 SCN1A POMC PCDH19 GABRG2
16 epileptic encephalopathy, childhood-onset 30.8 CHD2 CACNA1A
17 mitochondrial metabolism disease 30.8 POLG MT-ND1 EPRS1
18 autism spectrum disorder 30.8 SCN1A POMC PCDH19 KCNQ3 GABRG2 GABRB3
19 benign epilepsy with centrotemporal spikes 30.7 SCN1A PCDH19 KCNQ3 GABRG2 GABRB3 CHD2
20 generalized epilepsy with febrile seizures plus 30.7 SCN1A PCDH19 KCNQ3 GABRG2 GABRB3 CACNA1A
21 rett syndrome 30.7 SCN1A POMC GABRB3 DNM1
22 dysphagia 30.5 POLG EPRS1
23 dystonia 30.5 POLG MT-ND1 GABRG2 CIZ1 CACNA1A
24 peripheral nervous system disease 30.2 POMC POLG MT-ND1 EPRS1
25 neurodegeneration with brain iron accumulation 5 11.7
26 trichorhinophalangeal syndrome, type ii 11.5
27 chromosome 15q11-q13 duplication syndrome 11.3
28 developmental and epileptic encephalopathy 90 11.2
29 developmental and epileptic encephalopathy 15 11.2
30 scn1a-related seizure disorders 11.2
31 encephalopathy, acute, infection-induced 4 11.1
32 exostoses, multiple, type i 10.9
33 continuous spike-wave during slow sleep syndrome 10.9
34 focal epilepsy 10.6
35 acute necrotizing encephalitis 10.6
36 sporadic hemiplegic migraine 10.5 SCN1A CACNA1A
37 neuronal migration disorders 10.5 SCN1A DCX ADGRG1
38 febrile infection-related epilepsy syndrome 10.5 SCN1A POLG PCDH19
39 febrile seizures, familial, 2 10.5 SCN1A KCNQ3 GABRG2
40 febrile seizures, familial, 1 10.5 SCN1A KCNQ3 GABRG2
41 febrile seizures, familial, 6 10.5 SCN1A GABRG2
42 epilepsy, nocturnal frontal lobe, 1 10.5 SCN1A KCNQ3 GABRG2
43 plagiocephaly 10.5 SCN1A POLG
44 central nervous system origin vertigo 10.5 POLG CACNA1A
45 febrile seizures, familial, 5 10.5 SCN1A GABRG2
46 reflex epilepsy 10.5 SCN1A GABRG2
47 benign neonatal seizures 10.5 SCN1A PCDH19 KCNQ3
48 juvenile absence epilepsy 10.5 SCN1A GABRG2 GABRB3
49 epilepsy with generalized tonic-clonic seizures 10.5 SCN1A GABRG2 GABRB3
50 partial motor epilepsy 10.5 SCN1A POLG

Graphical network of the top 20 diseases related to Lennox-Gastaut Syndrome:



Diseases related to Lennox-Gastaut Syndrome

Symptoms & Phenotypes for Lennox-Gastaut Syndrome

Human phenotypes related to Lennox-Gastaut Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
3 eeg with focal sharp slow waves 58 31 hallmark (90%) Very frequent (99-80%) HP:0011195
4 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
5 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
6 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
7 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
8 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
9 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
10 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
11 atonic seizure 58 31 frequent (33%) Frequent (79-30%) HP:0010819
12 atypical absence seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007270
13 personality disorder 58 31 frequent (33%) Frequent (79-30%) HP:0012075
14 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
15 generalized tonic seizure 31 frequent (33%) HP:0010818
16 focal-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007359
17 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
18 eeg abnormality 58 Frequent (79-30%)
19 behavioral abnormality 58 Frequent (79-30%)
20 generalized myoclonic seizures 58 Occasional (29-5%)
21 generalized tonic-clonic seizures 58 Frequent (79-30%)
22 generalized tonic seizures 58 Frequent (79-30%)

UMLS symptoms related to Lennox-Gastaut Syndrome:


hemiplegia

MGI Mouse Phenotypes related to Lennox-Gastaut Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ADGRG1 CACNA1A CHD2 CIZ1 DCX DNM1
2 cellular MP:0005384 10.18 ADGRG1 CACNA1A CHD2 CIZ1 CUX2 DNM1
3 growth/size/body region MP:0005378 10.13 CACNA1A CHD2 CIZ1 DCX EPRS1 GABRB3
4 mortality/aging MP:0010768 10.1 CACNA1A CHD2 CUX2 DCX DNM1 EPRS1
5 nervous system MP:0003631 10 ADGRG1 CACNA1A CUX2 DCX DNM1 GABRB3
6 no phenotypic analysis MP:0003012 9.56 CACNA1A CUX2 DNM1 GABRB3 MAPK10 POLG
7 reproductive system MP:0005389 9.32 ADGRG1 CACNA1A CHD2 DCX GABRB3 GABRG2

Drugs & Therapeutics for Lennox-Gastaut Syndrome

Drugs for Lennox-Gastaut Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
2 Protective Agents Phase 4
3 Antioxidants Phase 4
4
Ethanol Approved Phase 3 64-17-5 702
5 Strawberry Approved Phase 3
6
Topiramate Approved Phase 3 97240-79-4 5284627
7
tannic acid Approved Phase 3 1401-55-4
8
sodium fluoride Approved Phase 3 7681-49-4
9
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
10
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
11
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 3 458-24-2 3337
12
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
13 Hypoglycemic Agents Phase 3
14 Psychotropic Drugs Phase 3
15 GABA Agonists Phase 3
16 Listerine Phase 3
17 Anti-Anxiety Agents Phase 3
18 Neurotransmitter Agents Phase 3
19 Serotonin Uptake Inhibitors Phase 3
20
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
21
Rufinamide Approved 106308-44-5 129228
22 Sodium Channel Blockers
23 Diuretics, Potassium Sparing

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Double Blind, Randomised, Cross-over Study Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
2 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
3 An Open-Label Exploratory Investigation of Cognitive Outcomes With Cannabidiol Oral Solution (EPIDIOLEX®; GWP42003-P) Withdrawn NCT04133480 Phase 4 GWP42003-P
4 A Long Term Extension Study of E2080 in Lennox-Gastaut Patients Completed NCT01151540 Phase 3 Rufinamide
5 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
6 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Topiramate for Lennox-Gastaut Syndrome Completed NCT00004776 Phase 3 topiramate
7 Safety and Effectiveness of Open-Label Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT01160770 Phase 3 Clobazam
8 A Multicenter, Randomized, Controlled, Open-label Study to Evaluate the Cognitive Development Effects and Safety, and Pharmacokinetics of Adjunctive Rufinamide Treatment in Pediatric Subjects 1 to Less Than 4 Years of Age With Inadequately Controlled Lennox-Gastaut Syndrome Completed NCT01405053 Phase 3 Rufinamide;Any other approved Antiepileptic Drug
9 A Double-Blind Trial of Topiramate in Subjects With Lennox-Gastaut Syndrome. Completed NCT00236756 Phase 3 topiramate
10 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P; CBD) as Adjunctive Treatment for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults. Completed NCT02224560 Phase 3 GWP42003-P;Placebo control
11 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P; CBD) as Adjunctive Treatment for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults. Completed NCT02224690 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo
12 Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Clobazam in Patients With Lennox-Gastaut Syndrome Completed NCT00518713 Phase 3 Clobazam Low Dose;Clobazam Medium Dose;Clobazam High Dose;Placebo
13 An Open Label Extension Study to Investigate the Safety of Cannabidiol (GWP42003-P; CBD) in Children and Young Adults With Inadequately Controlled Dravet or Lennox-Gastaut Syndromes. Completed NCT02224573 Phase 3 GWP42003-P
14 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial With an Open-Label Extension Phase of Perampanel as Adjunctive Treatment in Subjects at Least 2 Years of Age With Inadequately Controlled Seizures Associated With Lennox-Gastaut Syndrome Recruiting NCT02834793 Phase 3 Placebo;Perampanel
15 A Two-Part Study of ZX008 in Children and Adults With Lennox-Gastaut Syndrome (LGS); Part 1: A Randomized, Double-blind, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as Adjunctive Therapy for Seizures in Children and Adults With LGS, Followed by Part 2: An Open-label Extension to Assess Long-Term Safety of ZX008 in Children and Adults With LGS Recruiting NCT03355209 Phase 3 ZX008 0.2 or 0.8 mg/kg/day;Matching Placebo
16 A Prospective Multi-Center Single-Arm Clinical Trial on Cognitive Effect of Cannabidiol (CBD-OS®) on Dravet Syndrome and Lennox-Gastaut Syndrome Recruiting NCT04611438 Phase 3 Cannabidiol
17 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
18 RTG113388, a Long-term, Open-label Safety Extension Study of Retigabine/Ezogabine in Pediatric Subjects With Partial Onset Seizures (>= 12 Years Old) and Subjects With Lennox-Gastaut Syndrome (>=12 Years Old) Terminated NCT01668654 Phase 3 retigabine/ezogabine
19 A Multicenter, Randomized, Double-blind, Placebo-controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Lennox-Gastaut Syndrome Withdrawn NCT02318537 Phase 3 Cannabidiol Oral Solution;Placebo Solution
20 Safety and Efficacy of Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT00162981 Phase 2 Clobazam Low Dose;Clobazam High Dose
21 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Completed NCT03650452 Phase 2 TAK-935;Placebo
22 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
23 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
24 Add-on Therapy With Low Dose Fenfluramine in Lennox Gastaut Epilepsy Active, not recruiting NCT02655198 Phase 2 Fenfluramine
25 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
26 Open-label, Multiple Dose Study to Evaluate the Parmacokinetics, Safety and Tolerability of Ezogabine/Retigabine as Adjunctive Treatment in Subjects Aged From 12 Years to Less Than 18 Years With Partial Onset Seizures or Lennox-Gastaut Syndrome Terminated NCT01494584 Phase 2 ezogabine/retigabine
27 Efficacy of Epidiolex in Patients With Electrical Status Epilepticus of Sleep (ESES). Recruiting NCT04721691 Phase 1 Epidiolex 100 mg/mL Oral Solution
28 Phase I, Open-Label, Pharmacokinetic, Dose Escalation Study of Carisbamate in Adult and Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT03731715 Phase 1 Carisbamate
29 Phase 1, Open-Label Study of Carisbamate in Adult and Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT04062981 Phase 1 Carisbamate
30 A Single-Center, Open-Label,Randomized, Crossover Study to Evaluate the Relative Bioavailability and Food Effect of a New Oral Suspension and Tablet Formulation of Carisbamate (YKP509) in Healthy Adult Subjects Active, not recruiting NCT04520360 Phase 1 Carisbamate
31 The Clinical Research on PINS Vagus Nerve Stimulator for Treatment of Lennox-Gastaut in Children Unknown status NCT02632149 Early Phase 1
32 European Registry of Anti-epileptic Drug Use in Patients With Lennox-Gastaut Syndrome (LGS). Completed NCT01991041
33 An Open-label Observation Study of Topiramate Administration as Adjuvant Therapy for Focal Epilepsy, Lennox-Gastaut Syndrome Epileptic Seizures and Generalized Tonoclonic Seizures in Adults and Children Aged 2 Years and Older Completed NCT00297349 Topiramate
34 Efficacy of the Ketogenic Diet -- a Blinded Study Completed NCT00004729
35 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
36 Post-marketing Surveillance of Long-term Administration of Inovelon Tablets in Patients With Lennox-Gastaut Syndrome Recruiting NCT02175173 Rufinamide
37 Long-term Cardiac Monitoring in Epilepsy: Comparative Group Study to Assess Risk of Interictal and Ictal Cardiac Dysfunction Recruiting NCT03955432
38 An Extended Access Program (EAP) for Rufinamide in Pediatric Participants With Inadequately Controlled Lennox-Gastaut Syndrome Available NCT03778424 Rufinamide
39 An Extended Access Program (EAP) for Perampanel Available NCT02307578 Perampanel
40 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
41 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680

Search NIH Clinical Center for Lennox-Gastaut Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


clobazam
Clonazepam
COLBAZAM

Genetic Tests for Lennox-Gastaut Syndrome

Genetic tests related to Lennox-Gastaut Syndrome:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy Lennox-Gastaut Type 29

Anatomical Context for Lennox-Gastaut Syndrome

MalaCards organs/tissues related to Lennox-Gastaut Syndrome:

40
Eye, Brain, Cortex, Skin, Prefrontal Cortex, Thalamus, Tongue

Publications for Lennox-Gastaut Syndrome

Articles related to Lennox-Gastaut Syndrome:

(show top 50) (show all 1325)
# Title Authors PMID Year
1
DNM1 encephalopathy: A new disease of vesicle fission. 61 6
28667181 2017
2
[Dynamin-1-related infantile spasms: a case report and review of literature]. 6 61
27806796 2016
3
De novo DNM1 mutations in two cases of epileptic encephalopathy. 6 61
26611353 2016
4
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 61 6
25262651 2014
5
CHD2 mutations in Lennox-Gastaut syndrome. 61 6
24614520 2014
6
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
7
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. 6
29740950 2018
8
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. 6
29720203 2018
9
A noncanonical role for dynamin-1 in regulating early stages of clathrin-mediated endocytosis in non-neuronal cells. 6
29668686 2018
10
DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene. 6
29427836 2018
11
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. 6
29314763 2018
12
Genomic diagnostics within a medically underserved population: efficacy and implications. 6
28726809 2018
13
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. 6
28074849 2017
14
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
15
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 6
27476654 2016
16
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. 6
26754451 2016
17
CHD2 variants are a risk factor for photosensitivity in epilepsy. 6
25783594 2015
18
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
19
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 6
25418537 2014
20
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. 6
24932903 2014
21
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 6
24207121 2013
22
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
23
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6
23020937 2012
24
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. 6
22178256 2012
25
Real-time visualization of dynamin-catalyzed membrane fission and vesicle release. 6
19084268 2008
26
Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages. 6
11553700 2001
27
Quantitative analysis of 'organization' by feature extraction of the EEG power spectrum. 6
2578359 1985
28
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 61 54
19782004 2009
29
Time to onset of cannabidiol (CBD) treatment effect in Lennox-Gastaut syndrome: Analysis from two randomized controlled trials. 61
33797076 2021
30
Comment on "Cost-Effectiveness of Cannabidiol Adjunct Therapy Versus Usual Care for the Treatment of Seizures in Lennox-Gastaut Syndrome". 61
33674999 2021
31
Authors' Reply to Comment on "Cost-Effectiveness of Cannabidiol Adjunct Therapy Versus Usual Care for the Treatment of Seizures in Lennox-Gastaut Syndrome". 61
33674997 2021
32
How can a Na+ channel inhibitor ameliorate seizures in Lennox-Gastaut syndrome? 61
33745195 2021
33
The efficacy and tolerability of auto-stimulation-VNS in children with Lennox-Gastaut syndrome. 61
33626436 2021
34
CLB add-on treatment in patients with epileptic encephalopathy: a single center experience with long-term follow-up. 61
33782854 2021
35
Microsurgical management of a brachial artery pseudoaneurysm in a 41-day-old infant. 61
33718684 2021
36
Consciousness among delta waves: a paradox? 61
33693596 2021
37
Cannabidiol in the treatment of epilepsy: Current evidence and perspectives for further research. 61
33347884 2021
38
Highly Purified Cannabidiol for Epilepsy Treatment: A Systematic Review of Epileptic Conditions Beyond Dravet Syndrome and Lennox-Gastaut Syndrome. 61
33754312 2021
39
Clinical profile and treatment outcome of epilepsy syndromes in children: A hospital-based study in Eastern Nepal. 61
33681663 2021
40
Transition from pediatric to adult care in a Japanese cohort of childhood-onset epilepsy: prevalence of epileptic syndromes and complexity in the transition. 61
33773226 2021
41
Cannabidiol in the Treatment of Epilepsy. 61
33559102 2021
42
Evolution of Infantile Spasms to Lennox-Gastaut Syndrome: What Is There to Know? 61
33764203 2021
43
Altered Fast Synaptic Transmission in a Mouse Model of DNM1-Associated Developmental Epileptic Encephalopathy. 61
33372033 2021
44
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. 61
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45
Cannabidiol in conjunction with clobazam: analysis of four randomized controlled trials. 61
32969022 2021
46
Cannabidiol for epilepsy (Lennox-Gastaut syndrome, Dravet syndrome). 61
33664547 2021
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Clinical variations of epileptic syndrome associated with PACS2 variant. 61
33243487 2021
48
The unchanging face of Lennox-Gastaut syndrome in adulthood. 61
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49
Therapy of Lennox-Gastaut syndrome. 61
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The role of surgery in the management of Lennox-Gastaut syndrome: A systematic review and meta-analysis of the clinical evidence. 61
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Variations for Lennox-Gastaut Syndrome

ClinVar genetic disease variations for Lennox-Gastaut Syndrome:

6 (show top 50) (show all 629)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD2 CHD2, GLU1412GLYFSTER64 Variation Pathogenic 60711 GRCh37:
GRCh38:
2 CHD2 CHD2, GLY491VALFSTER13 Variation Pathogenic 60713 GRCh37:
GRCh38:
3 CHD2 CHD2, ARG1644LYSFSTER22 Variation Pathogenic 60714 GRCh37:
GRCh38:
4 CHD2 CHD2, TRP548ARG Variation Pathogenic 60715 GRCh37:
GRCh38:
5 CHD2 NC_000015.10:g.(?_92939558)_(92944535_?)del Deletion Pathogenic 830630 GRCh37: 15:93482788-93487765
GRCh38:
6 CHD2 NC_000015.10:g.(?_92901218)_(92901319_?)del Deletion Pathogenic 831537 GRCh37: 15:93444448-93444549
GRCh38:
7 CHD2 NC_000015.10:g.(?_92967305)_(93012464_?)del Deletion Pathogenic 831970 GRCh37: 15:93510535-93555694
GRCh38:
8 CHD2 NC_000015.10:g.(?_92901218)_(93040513_?)del Deletion Pathogenic 832822 GRCh37: 15:93444448-93583743
GRCh38:
9 CHD2 NC_000015.10:g.(?_92929010)_(92929111_?)del Deletion Pathogenic 832946 GRCh37: 15:93472240-93472341
GRCh38:
10 DNM1 NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) SNV Pathogenic 156557 rs587777860 GRCh37: 9:130981471-130981471
GRCh38: 9:128219192-128219192
11 DNM1 NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) SNV Pathogenic 156558 rs587777861 GRCh37: 9:130982295-130982295
GRCh38: 9:128220016-128220016
12 DNM1 NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) SNV Pathogenic 156559 rs587777862 GRCh37: 9:130984823-130984823
GRCh38: 9:128222544-128222544
13 DNM1 NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) SNV Pathogenic 190311 rs1554774401 GRCh37: 9:130984491-130984491
GRCh38: 9:128222212-128222212
14 DNM1 NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) SNV Pathogenic 520433 rs1554774575 GRCh37: 9:130984783-130984783
GRCh38: 9:128222504-128222504
15 DNM1 NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Arg364_Ile365insLeuPro) Insertion Pathogenic 587399 rs1564332930 GRCh37: 9:130984836-130984837
GRCh38: 9:128222557-128222558
16 DNM1 NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) SNV Pathogenic 520737 rs1554774587 GRCh37: 9:130984822-130984822
GRCh38: 9:128222543-128222543
17 CHD2 NM_001271.4(CHD2):c.1809+1del Deletion Pathogenic 60710 rs397514739 GRCh37: 15:93498742-93498742
GRCh38: 15:92955512-92955512
18 CHD2 NM_001271.4(CHD2):c.1810-2A>C SNV Pathogenic 92096 rs398122999 GRCh37: 15:93499687-93499687
GRCh38: 15:92956457-92956457
19 CIZ1 , DNM1 NM_004408.4(DNM1):c.139G>A (p.Val47Met) SNV Pathogenic 224142 rs869312702 GRCh37: 9:130965888-130965888
GRCh38: 9:128203609-128203609
20 CHD2 NM_001271.4(CHD2):c.1552del (p.Gln518fs) Deletion Pathogenic 224149 rs869312705 GRCh37: 15:93496635-93496635
GRCh38: 15:92953405-92953405
21 CHD2 NM_001271.3(CHD2):c.3787dupG (p.Val1263Glyfs) Duplication Pathogenic 224140 rs869312877 GRCh37: 15:93540529-93540530
GRCh38: 15:92997299-92997300
22 CHD2 NM_001271.4(CHD2):c.2765dup (p.Glu923fs) Duplication Pathogenic 474379 rs1555442886 GRCh37: 15:93522401-93522402
GRCh38: 15:92979171-92979172
23 CHD2 NM_001271.4(CHD2):c.879_883del (p.Ser293fs) Deletion Pathogenic 411852 rs1060503517 GRCh37: 15:93486124-93486128
GRCh38: 15:92942894-92942898
24 CHD2 NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) SNV Pathogenic 541360 rs1555439719 GRCh37: 15:93487673-93487673
GRCh38: 15:92944443-92944443
25 CHD2 NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) Indel Pathogenic 541361 rs1555442889 GRCh37: 15:93522422-93522438
GRCh38: 15:92979192-92979208
26 CHD2 NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) SNV Pathogenic 541362 rs773860345 GRCh37: 15:93528899-93528899
GRCh38: 15:92985669-92985669
27 CHD2 NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) SNV Pathogenic 541367 rs1555439714 GRCh37: 15:93487645-93487645
GRCh38: 15:92944415-92944415
28 CHD2 NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) Deletion Pathogenic 569116 rs1567136357 GRCh37: 15:93487725-93487728
GRCh38: 15:92944495-92944498
29 CHD2 NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) Indel Pathogenic 569905 rs1567138270 GRCh37: 15:93492186-93492187
GRCh38: 15:92948956-92948957
30 CHD2 NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter) SNV Pathogenic 548002 rs1555440885 GRCh37: 15:93499762-93499762
GRCh38: 15:92956532-92956532
31 CHD2 NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) SNV Pathogenic 578850 rs1567159145 GRCh37: 15:93543839-93543839
GRCh38: 15:93000609-93000609
32 CHD2 NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) SNV Pathogenic 579480 rs1567135138 GRCh37: 15:93485098-93485098
GRCh38: 15:92941868-92941868
33 CHD2 NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) SNV Pathogenic 644061 rs761127171 GRCh37: 15:93563403-93563403
GRCh38: 15:93020173-93020173
34 CHD2 NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) SNV Pathogenic 645522 rs3210462 GRCh37: 15:93545443-93545443
GRCh38: 15:93002213-93002213
35 CHD2 NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) SNV Pathogenic 694745 rs1246923304 GRCh37: 15:93541846-93541846
GRCh38: 15:92998616-92998616
36 CHD2 NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) SNV Pathogenic 803140 rs1596436494 GRCh37: 15:93527680-93527680
GRCh38: 15:92984450-92984450
37 CHD2 NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter) SNV Pathogenic 812180 GRCh37: 15:93486194-93486194
GRCh38: 15:92942964-92942964
38 CHD2 NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) SNV Pathogenic 835341 GRCh37: 15:93541768-93541768
GRCh38: 15:92998538-92998538
39 CHD2 NM_001271.4(CHD2):c.1541dup (p.Thr516fs) Duplication Pathogenic 849422 GRCh37: 15:93496623-93496624
GRCh38: 15:92953393-92953394
40 CHD2 NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs) Deletion Pathogenic 850311 GRCh37: 15:93527664-93527665
GRCh38: 15:92984434-92984435
41 CHD2 NM_001271.4(CHD2):c.1894dup (p.Thr632fs) Duplication Pathogenic 850653 GRCh37: 15:93499769-93499770
GRCh38: 15:92956539-92956540
42 CHD2 NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) SNV Pathogenic 863276 GRCh37: 15:93540530-93540530
GRCh38: 15:92997300-92997300
43 CHD2 NM_001271.4(CHD2):c.1895_1896CT[1] (p.Leu633fs) Microsatellite Pathogenic 864189 GRCh37: 15:93499774-93499775
GRCh38: 15:92956544-92956545
44 CHD2 NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter) SNV Pathogenic 864750 GRCh37: 15:93521483-93521483
GRCh38: 15:92978253-92978253
45 CHD2 NM_001271.4(CHD2):c.693-2A>G SNV Pathogenic 935425 GRCh37: 15:93485050-93485050
GRCh38: 15:92941820-92941820
46 CHD2 NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter) SNV Pathogenic 938297 GRCh37: 15:93487691-93487691
GRCh38: 15:92944461-92944461
47 CHD2 NM_001271.4(CHD2):c.670C>T (p.Arg224Ter) SNV Pathogenic 940436 GRCh37: 15:93482926-93482926
GRCh38: 15:92939696-92939696
48 CHD2 NM_001271.4(CHD2):c.747_748del (p.Gly250fs) Deletion Pathogenic 947704 GRCh37: 15:93485106-93485107
GRCh38: 15:92941876-92941877
49 CHD2 NM_001271.4(CHD2):c.4968dup (p.Trp1657fs) Duplication Pathogenic 947825 GRCh37: 15:93563302-93563303
GRCh38: 15:93020072-93020073
50 CHD2 NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs) Deletion Pathogenic 955355 GRCh37: 15:93498685-93498716
GRCh38: 15:92955455-92955486

Expression for Lennox-Gastaut Syndrome

Search GEO for disease gene expression data for Lennox-Gastaut Syndrome.

Pathways for Lennox-Gastaut Syndrome

Pathways related to Lennox-Gastaut Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 MT-ND1 MAPK10 GABRG2 GABRB3 CACNA1A
2
Show member pathways
11.02 SCN1A KCNQ3 DNM1 DCX
3 10.73 GABRG2 GABRB3 CACNA1A
4 10.49 GABRG2 GABRB3

GO Terms for Lennox-Gastaut Syndrome

Cellular components related to Lennox-Gastaut Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor complex GO:1902711 9.16 GABRG2 GABRB3
2 axon initial segment GO:0043194 8.96 SCN1A KCNQ3
3 node of Ranvier GO:0033268 8.62 SCN1A KCNQ3

Biological processes related to Lennox-Gastaut Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 SCN1A KCNQ3 GABRG2 GABRB3 CACNA1A
2 regulation of membrane potential GO:0042391 9.58 SCN1A GABRG2 GABRB3
3 chemical synaptic transmission GO:0007268 9.46 KCNQ3 GABRG2 GABRB3 CACNA1A
4 response to amyloid-beta GO:1904645 9.37 DNM1 CACNA1A
5 layer formation in cerebral cortex GO:0021819 9.32 DCX ADGRG1
6 inhibitory synapse assembly GO:1904862 9.26 GABRG2 GABRB3
7 ion transmembrane transport GO:0034220 9.02 SCN1A KCNQ3 GABRG2 GABRB3 CACNA1A
8 cellular response to histamine GO:0071420 8.96 GABRG2 GABRB3

Molecular functions related to Lennox-Gastaut Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 9.16 GABRG2 GABRB3
2 ion channel activity GO:0005216 9.02 SCN1A KCNQ3 GABRG2 GABRB3 CACNA1A
3 GABA-gated chloride ion channel activity GO:0022851 8.96 GABRG2 GABRB3

Sources for Lennox-Gastaut Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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