Lennox-Gastaut Syndrome (LGS)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lennox-Gastaut Syndrome

MalaCards integrated aliases for Lennox-Gastaut Syndrome:

Name: Lennox-Gastaut Syndrome 12 74 52 25 53 58 36 54 6 15 71
Epileptic Encephalopathy Lennox-Gastaut Type 52 29 6
Lennox Syndrome 12 71
Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves 25
Encephalopathy of Childhood 52
Lgs 25


Orphanet epidemiological data:

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


Orphanet: 58  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:0050561
KEGG 36 H01813
MESH via Orphanet 44 C535500
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 72 C0238111
Orphanet 58 ORPHA2382
UMLS 71 C0238111 C0598392

Summaries for Lennox-Gastaut Syndrome

Genetics Home Reference : 25 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 seizure disorder and early infantile epileptic encephalopathy, and has symptoms including hemiplegia An important gene associated with Lennox-Gastaut Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are GABAergic synapse and Neuroscience. The drugs Clobazam and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, 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.

NIH Rare Diseases : 52 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 : 74 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 248)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 32.7 SCN1A KCNQ2 CDKL5
2 early infantile epileptic encephalopathy 32.5 STXBP1 ST3GAL3 SCN1A POMC POLG PCDH19
3 visual epilepsy 32.4 STXBP1 SCN1A POLG KCNQ2 GABRG2 DNM1
4 encephalopathy 32.4 STXBP1 SCN1A POLG PCDH19 CDKL5
5 status epilepticus 32.1 SCN1A POLG PCDH19 KCNQ2
6 west syndrome 31.9 STXBP1 ST3GAL3 SCN1A POMC POLG PCDH19
7 epilepsy with myoclonic-atonic seizures 31.8 SCN1A CHD2
8 focal epilepsy 31.8 SCN1A PCDH19 KCNQ2 GABRG2 DCX CDKL5
9 epilepsy 31.7 STXBP1 ST3GAL3 SCN1A POLG PCDH19 KCNQ2
10 epileptic encephalopathy, early infantile, 6 31.7 STXBP1 SCN1A PCDH19 KCNQ2 GABRG2 GABRB3
11 myoclonic epilepsy of infancy 31.5 SCN1A GABRG2
12 autism 31.4 SCN1A POMC PCDH19 GABRG2 GABRB3 CUX2
13 epilepsy, idiopathic generalized 31.3 STXBP1 SCN1A POLG PCDH19 KCNQ2 GABRG2
14 early myoclonic encephalopathy 31.2 STXBP1 SCN1A POLG PCDH19 KCNQ2 GABRG2
15 aicardi syndrome 31.2 PCDH19 CDKL5 ADGRG1
16 autism spectrum disorder 31.1 SCN1A POMC PCDH19 GABRG2 GABRB3 CUX2
17 rett syndrome 31.0 STXBP1 SCN1A POMC GABRB3 CDKL5
18 migraine with or without aura 1 31.0 SCN1A POMC POLG KCNQ2
19 microcephaly 31.0 ZEB2 STXBP1 SCN1A POLG EPRS1 CDKL5
20 electroclinical syndrome 30.9 STXBP1 SCN1A POMC POLG PCDH19 KCNQ2
21 generalized epilepsy with febrile seizures plus 30.9 STXBP1 SCN1A PCDH19 KCNQ2 GABRG2 GABRB3
22 landau-kleffner syndrome 30.8 STXBP1 SCN1A POMC PCDH19 KCNQ2 GABRG2
23 benign epilepsy with centrotemporal spikes 30.7 STXBP1 SCN1A PCDH19 KCNQ2 GABRG2 GABRB3
24 peripheral nervous system disease 30.5 POMC POLG MT-ND1 EPRS1
25 trichorhinophalangeal syndrome, type ii 12.1
26 chromosome 15q11-q13 duplication syndrome 11.9
27 neurodegeneration with brain iron accumulation 5 11.6
28 epileptic encephalopathy, early infantile, 15 11.6
29 scn1a-related seizure disorders 11.6
30 encephalopathy, acute, infection-induced 4 11.2
31 exostoses, multiple, type i 11.2
32 lymphomatoid granulomatosis 11.2
33 continuous spike-wave during slow sleep syndrome 11.0
34 alacrima, achalasia, and mental retardation syndrome 10.8
35 febrile infection-related epilepsy syndrome 10.6 SCN1A POLG PCDH19
36 neuronal migration disorders 10.6 SCN1A DCX ADGRG1
37 epilepsy, nocturnal frontal lobe, 1 10.6 SCN1A KCNQ2 GABRG2
38 juvenile absence epilepsy 10.6 SCN1A GABRG2 GABRB3
39 plagiocephaly 10.6 SCN1A POLG
40 exanthem 10.6
41 epileptic encephalopathy, childhood-onset 10.6 PCDH19 KCNQ2 CHD2
42 early onset absence epilepsy 10.6 SCN1A KCNQ2 GABRG2 GABRB3
43 partial motor epilepsy 10.6 STXBP1 SCN1A POLG KCNQ2
44 epileptic encephalopathy, early infantile, 1 10.6 ST3GAL3 SCN1A KCNQ2 GABRB3
45 undetermined early-onset epileptic encephalopathy 10.5 STXBP1 GABRG2 DNM1
46 cerebral degeneration 10.5 STXBP1 POMC POLG EPRS1
47 photosensitive epilepsy 10.5 SCN1A PCDH19 KCNQ2 GABRG2
48 familial febrile seizures 10.5 SCN1A GABRG2
49 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
50 ataxia and polyneuropathy, adult-onset 10.5

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 19)
# 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 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
6 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
7 generalized tonic-clonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002069
8 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
9 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
10 generalized tonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0010818
11 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
12 atypical absence seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007270
13 atonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0010819
14 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
15 personality disorder 58 31 frequent (33%) Frequent (79-30%) HP:0012075
16 generalized myoclonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002123
17 focal-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007359
18 eeg abnormality 58 Frequent (79-30%)
19 behavioral abnormality 58 Frequent (79-30%)

UMLS symptoms related to Lennox-Gastaut Syndrome:


MGI Mouse Phenotypes related to Lennox-Gastaut Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ADGRG1 CDKL5 CHD2 DCX DNM1 GABRB3
2 mortality/aging MP:0010768 10.1 CHD2 CUX2 DCX DNM1 EPRS1 GABRB3
3 cellular MP:0005384 10.06 ADGRG1 CHD2 CUX2 DNM1 EPRS1 GATM
4 nervous system MP:0003631 10.06 ADGRG1 CDKL5 CUX2 DCX DNM1 GABRB3
5 no phenotypic analysis MP:0003012 9.61 CDKL5 CUX2 DNM1 GABRB3 MAPK10 POLG
6 reproductive system MP:0005389 9.32 ADGRG1 CHD2 DCX GABRB3 GABRG2 GATM

Drugs & Therapeutics for Lennox-Gastaut Syndrome

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
3 Central Nervous System Depressants Phase 4
4 Anti-Anxiety Agents Phase 4
5 Tranquilizing Agents Phase 4
6 Psychotropic Drugs Phase 4
7 GABA-A Receptor Agonists Phase 4
8 GABA Agonists Phase 4
Rufinamide Approved Phase 3 106308-44-5 129228
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
12 sodium fluoride Approved Phase 3 7681-49-4
Ethanol Approved Phase 3 64-17-5 702
14 Strawberry Approved Phase 3
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
Levetiracetam Approved Phase 2, Phase 3 102767-28-2 441341
Topiramate Approved Phase 3 97240-79-4 5284627
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
Lorazepam Approved Phase 3 846-49-1 3958
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
22 Sodium Channel Blockers Phase 3
23 Diuretics, Potassium Sparing Phase 3
24 Listerine Phase 3
25 Soy Bean Phase 2, Phase 3
26 Nootropic Agents Phase 2, Phase 3
27 Calcium, Dietary Phase 2, Phase 3
28 Sunflower Phase 3
29 Serotonin Uptake Inhibitors Phase 3
30 Serotonin Agents Phase 3
31 Hypoglycemic Agents Phase 3
32 GABA Modulators Phase 3
33 Hypnotics and Sedatives Phase 3
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
Felbamate Approved Phase 2 25451-15-4 3331
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
37 Antidepressive Agents Phase 2
38 Excitatory Amino Acid Antagonists Phase 2
39 Excitatory Amino Acids Phase 2
40 Fluorodeoxyglucose F18

Interventional clinical trials:

(show top 50) (show all 51)
# 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 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
3 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
4 An Open-Label Exploratory Investigation of Cognitive Outcomes With Cannabidiol Oral Solution (EPIDIOLEX®; GWP42003-P) Not yet recruiting NCT04133480 Phase 4 GWP42003-P
5 A Long Term Extension Study of E2080 in Lennox-Gastaut Patients Completed NCT01151540 Phase 3 Rufinamide
6 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Topiramate for Lennox-Gastaut Syndrome Completed NCT00004776 Phase 3 topiramate
7 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
8 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
9 A Multicenter, Open-label, Flexible Dose Study to Assess the Long-term Safety of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Treatment for Pediatric Subjects With a Treatment-resistant Seizure Disorder Who Complete INS011-14-029 or Part A of INS011-15-054 Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
10 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
11 Safety and Effectiveness of Open-Label Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT01160770 Phase 3 Clobazam
12 A Double-Blind Trial of Topiramate in Subjects With Lennox-Gastaut Syndrome. Completed NCT00236756 Phase 3 topiramate
13 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
14 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
15 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Determine the Efficacy and Safety of Adjunctive Topiramate in the Treatment of Obsessive-Compulsive Disorder Completed NCT00187928 Phase 3 Topiramate
16 Evaluation Of The Efficacy Of The Modified Atkins Diet In Children With Refractory Epilepsy: A Randomized Controlled Trial. Completed NCT00836836 Phase 2, Phase 3
17 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
18 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
19 Modified Atkins Diet Versus Levetiracetam for Refractory Epilepsy in Children: A Randomized Open-Label Study Recruiting NCT04172311 Phase 2, Phase 3 Levetiracetam
20 A Double-Blind, Placebo-Controlled, Parallel-Group Study of Cannabidiol Plus Tetrahydrocannabinol (CBD+THC) Given as Adjunctive Therapy in Patients With Refractory Seizures Recruiting NCT03808935 Phase 3 Medical Cannabis;Placebo
21 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. Active, not recruiting NCT02224573 Phase 3 GWP42003-P
22 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)
23 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Flexible-Dose Study to Assess the Efficacy of Topiramate for Weight Loss in Subjects With Metabolic Syndrome Suspended NCT00243984 Phase 3 topiramate
24 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
25 A Phase III, Randomized, Open Label, Single Center, Study on the Effects of Treatment of Epilepsia Partialis Continua With Clobazam Compared to Treatment With or in Addition to Lorazepam and/or Clonazepam Terminated NCT02134366 Phase 3 Clobazam;Clonazepam;Lorazepam
26 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
27 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
28 Safety and Efficacy of Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT00162981 Phase 2 Clobazam Low Dose;Clobazam High Dose
29 A Double-Blind Randomized Placebo-Controlled Trial of Felbamate in Treatment Resistant Bipolar Depression Completed NCT00034229 Phase 2 Felbamate
30 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
31 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
32 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
33 Add-on Therapy With Low Dose Fenfluramine in Lennox Gastaut Epilepsy Active, not recruiting NCT02655198 Phase 2 Fenfluramine
34 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
35 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
36 A Randomized, Open-label (OL), Multicenter Study With OL Extension of the Pharmacokinetics and Safety of Topiramate Administered as Oral Liquid and Sprinkle Formulations as an Adjunct to Concurrent Anticonvulsant Therapy in Infants (Aged 1-24 Months, Inclusive) With Refractory Partial-onset Seizures Completed NCT00233012 Phase 1 Topiramate
37 Phase 1, Open-Label Study of Carisbamate in Adult and Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT04062981 Phase 1 Carisbamate
38 Phase I, Open-Label, Pharmacokinetic, Dose Escalation Study of Carisbamate in Adult and Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT03731715 Phase 1 Carisbamate
39 Cannabidiol in Children With Refractory Epileptic Encephalopathy: A Phase 1 Open Label Dose Escalation Study (CARE-E) Active, not recruiting NCT03024827 Phase 1 CanniMed® 1:20
40 The Clinical Research on PINS Vagus Nerve Stimulator for Treatment of Lennox-Gastaut in Children Unknown status NCT02632149 Early Phase 1
41 European Registry of Anti-epileptic Drug Use in Patients With Lennox-Gastaut Syndrome (LGS). Completed NCT01991041
42 Efficacy of the Ketogenic Diet -- a Blinded Study Completed NCT00004729
43 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
44 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
45 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
46 Post-marketing Surveillance of Long-term Administration of Inovelon Tablets in Patients With Lennox-Gastaut Syndrome Recruiting NCT02175173 Rufinamide
47 Long-term Cardiac Monitoring in Epilepsy: Comparative Group Study to Assess Risk of Interictal and Ictal Cardiac Dysfunction Recruiting NCT03955432
48 An Extended Access Program (EAP) for Rufinamide in Pediatric Participants With Inadequately Controlled Lennox-Gastaut Syndrome Available NCT03778424 Rufinamide
49 Cognitive Impact of Benzodiazepin Withdrawn After Curative Epilepsy Surgery in Children With Focal Epilepsy Not yet recruiting NCT03803046
50 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680

Search NIH Clinical Center for Lennox-Gastaut Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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:

Brain, Testes, Eye, Liver, Cortex, Heart, T Cells

Publications for Lennox-Gastaut Syndrome

Articles related to Lennox-Gastaut Syndrome:

(show top 50) (show all 1212)
# Title Authors PMID Year
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 61 6
25262651 2014
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. 6
29740950 2018
CHD2-Related Neurodevelopmental Disorders 6
26677509 2015
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. 6
27066543 2015
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 6
24207121 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6
23020937 2012
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 54 61
19782004 2009
The cannabidiol conundrum: potential benefits and risks of cannabidiol products for children. 61
31833952 2020
Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors. 61
31678406 2020
Clinical features and electroclinical evolution in 22 cases with epileptic spasms without hypsarrhythmia. 61
32020895 2020
Targeting the centromedian thalamic nucleus for deep brain stimulation. 61
31980515 2020
Cognitive and functional status in late-onset Lennox-Gastaut syndrome: Variation on a classic phenotype. 61
31770718 2020
Adverse effects of cannabinoids. 61
31941644 2020
The role of cannabinoids in epilepsy treatment: a critical review of efficacy results from clinical trials. 61
31916540 2020
Source of cannabinoids: what is available, what is used, and where does it come from? 61
31941643 2020
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. 61
31879735 2020
A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family. 61
31829726 2020
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission. 61
31855252 2019
Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. 61
31734883 2019
[New anti-epileptic drugs in Paediatrics]. 61
31708334 2019
Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study. 61
31926846 2019
Open-label, uncontrolled retrospective study of perampanel in adults with Lennox-Gastaut syndrome. 61
31877501 2019
Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation. 61
31755996 2019
Asymmetric Slow-Spike-Wave Patterns with Maximal Discharges Contralateral to MRI Lesions Predict Better Surgical Prognosis in Symptomatic Lennox-Gastaut Syndrome or Lennox-Gastaut Phenotypes. 61
31851997 2019
Pharmacometrics of clobazam in pediatrics: Prediction of effective clobazam doses for Dravet syndrome. 61
31563030 2019
Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions. 61
31625159 2019
CHD2-related epilepsy: novel mutations and new phenotypes. 61
31677157 2019
Cannabinoids for drug-resistant seizures in a critically ill patient-Case report and literature review. 61
31770462 2019
IRF2BPL gene mutation: Expanding on neurologic phenotypes. 61
31432588 2019
A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. 61
31176687 2019
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
Clinical trial simulations of the interaction between cannabidiol and clobazam and effect on drop-seizure frequency. 61
31657863 2019
Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21. 61
31113280 2019
Safety and Efficacy of Supratherapeutic Doses of Clobazam. 61
31215313 2019
Drug-drug interactions and pharmacodynamics of concomitant clobazam and cannabidiol or stiripentol in refractory seizures. 61
31519475 2019
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. 61
31468518 2019
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study. 61
31575436 2019
Interstitial Stereotactic Laser Anterior Corpus Callosotomy: A Report of 2 Cases with Operative Technique and Effectiveness. 61
29982584 2019
An evaluation of clobazam tablets and film (AQST-120) for the treatment of Lennox-Gastaut syndrome. 61
31373526 2019
Therapeutic approach to Lennox-Gastaut syndrome: a systematic review. 61
31286465 2019
Pharmacological and Therapeutic Properties of Cannabidiol for Epilepsy. 61
31372958 2019
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. 61
31022635 2019
Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy. 61
31179531 2019
Dexmedetomidine for Electrocorticography in Patients With Lennox-Gastaut Syndrome Presenting for Epilepsy Surgery: A Case Report. 61
31008722 2019
Novel bioanalytical method for the quantification of rufinamide in mouse plasma and tissues using HPLC-UV: A tool to support pharmacokinetic studies. 61
31279290 2019
Development of a classifier to identify patients with probable Lennox-Gastaut syndrome in health insurance claims databases via random forest methodology. 61
30870597 2019
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 61
31255830 2019
Evaluation of the Effects of Clobazam on Seizure Control and Quality of Life in Children With Lennox-Gastaut Syndrome: A Pilot Study. 61
30913948 2019

Variations for Lennox-Gastaut Syndrome

ClinVar genetic disease variations for Lennox-Gastaut Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRG2 NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter)SNV Pathogenic 205540 5:161524722-161524722 5:162097716-162097716
2 SCN1A NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln)SNV Pathogenic/Likely pathogenic 68557 rs121917995 2:166848878-166848878 2:165992368-165992368
3 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198
4 MAPK10 MAPK10, EX10-14DELdeletion Uncertain significance 6746
5 ZEB2 NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp)SNV Uncertain significance 534635 rs1553960775 2:145147396-145147396 2:144389829-144389829
6 GATM NM_001482.3(GATM):c.367G>A (p.Ala123Thr)SNV Uncertain significance 560642 rs1566840902 15:45661641-45661641 15:45369443-45369443

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
Show member pathways
Show member pathways
4 10.39 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 axon initial segment GO:0043194 9.16 SCN1A KCNQ2
2 node of Ranvier GO:0033268 8.96 SCN1A KCNQ2
3 GABA-A receptor complex GO:1902711 8.62 GABRG2 GABRB3

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

# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.43 SCN1A GABRG2 GABRB3
2 positive regulation of dendrite morphogenesis GO:0050775 9.32 CUX2 CDKL5
3 layer formation in cerebral cortex GO:0021819 9.16 DCX ADGRG1
4 inhibitory synapse assembly GO:1904862 8.96 GABRG2 GABRB3
5 cellular response to histamine GO:0071420 8.62 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 8.96 GABRG2 GABRB3
2 GABA-gated chloride ion channel activity GO:0022851 8.62 GABRG2 GABRB3

Sources for Lennox-Gastaut Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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