LGS
MCID: LNN001
MIFTS: 56

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 75 53 25 54 59 37 55 6 15 72
Epileptic Encephalopathy Lennox-Gastaut Type 53 29 6
Lennox Syndrome 12 72
Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves 25
Encephalopathy of Childhood 53
Lgs 25

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050561
KEGG 37 H01813
MESH via Orphanet 45 C535500
ICD10 via Orphanet 34 G40.4
UMLS via Orphanet 73 C0238111
Orphanet 59 ORPHA2382
UMLS 72 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 early infantile epileptic encephalopathy and visual epilepsy, 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 Neuroscience and GABAergic synapse. 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 : 53 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 : 54 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 : 37
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 : 75 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 223)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 32.5 STXBP1 ST3GAL3 SCN1A KCNT1
2 visual epilepsy 32.1 STXBP1 SCN1A DNM1
3 epilepsy with myoclonic-atonic seizures 31.7 SCN1A CHD2
4 epilepsy, idiopathic generalized 31.1 SCN1A POLG GABRA1
5 west syndrome 31.0 STXBP1 ST3GAL3 SCN1A POMC MT-ND1 KCNT1
6 epilepsy 30.3 STXBP1 SCN1A POLG KCNT1 GABRB3 GABRA1
7 epileptic encephalopathy, early infantile, 6 30.0 STXBP1 SCN1A KCNT1 GABRB3 GABRA1 CYP2C19
8 trichorhinophalangeal syndrome, type ii 12.1
9 chromosome 15q11-q13 duplication syndrome 11.9
10 neurodegeneration with brain iron accumulation 5 11.6
11 epileptic encephalopathy, early infantile, 15 11.6
12 scn1a-related seizure disorders 11.6
13 seizure disorder 11.2
14 exostoses, multiple, type i 11.2
15 lymphomatoid granulomatosis 11.2
16 encephalopathy, acute, infection-induced 4 11.2
17 encephalopathy 11.1
18 continuous spike-wave during slow sleep syndrome 11.0
19 status epilepticus 10.9
20 alacrima, achalasia, and mental retardation syndrome 10.8
21 focal epilepsy 10.8
22 autism 10.6
23 febrile infection-related epilepsy syndrome 10.6 SCN1A POLG
24 exanthem 10.6
25 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
26 tuberous sclerosis 10.5
27 avoidant personality disorder 10.5
28 personality disorder 10.5
29 myoclonus 10.5
30 ataxia and polyneuropathy, adult-onset 10.5
31 early myoclonic encephalopathy 10.5
32 48,xyyy 10.5
33 cerebral atrophy 10.5
34 infancy electroclinical syndrome 10.4 STXBP1 SCN1A POMC
35 acute necrotizing encephalopathy 10.4
36 band heterotopia 10.4
37 yemenite deaf-blind hypopigmentation syndrome 10.4
38 cortical dysplasia, complex, with other brain malformations 7 10.4
39 electroclinical syndrome 10.4
40 autism spectrum disorder 10.4
41 aphasia 10.4
42 cysticercosis 10.4
43 meningoencephalitis 10.4
44 temporal lobe epilepsy 10.4
45 mutism 10.4
46 inherited metabolic disorder 10.4
47 learning disability 10.4
48 intracranial hypertension 10.4
49 chd2-related neurodevelopmental disorders 10.4
50 scn1a seizure disorders 10.4

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
3 eeg with focal sharp slow waves 59 32 hallmark (90%) Very frequent (99-80%) HP:0011195
4 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
5 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
6 falls 59 32 frequent (33%) Frequent (79-30%) HP:0002527
7 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
8 generalized tonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0010818
9 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
10 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
11 atypical absence seizure 59 32 frequent (33%) Frequent (79-30%) HP:0007270
12 atonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0010819
13 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
14 abnormality of brainstem morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002363
15 personality disorder 59 32 frequent (33%) Frequent (79-30%) HP:0012075
16 generalized myoclonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002123
17 focal-onset seizure 59 32 occasional (7.5%) Occasional (29-5%) HP:0007359
18 eeg abnormality 59 Frequent (79-30%)
19 behavioral abnormality 59 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 10.18 ADGRG1 CHD2 DCX DNM1 GABRA1 GABRB3
2 mortality/aging MP:0010768 10.07 CHD2 CUX2 DCX DNM1 GABRA1 GABRB3
3 cellular MP:0005384 10.02 ADGRG1 CHD2 CUX2 DNM1 GATM MAPK10
4 nervous system MP:0003631 9.97 ADGRG1 CUX2 DCX DNM1 GABRA1 GABRB3
5 no phenotypic analysis MP:0003012 9.65 CUX2 DNM1 GABRA1 GABRB3 MAPK10 POLG
6 reproductive system MP:0005389 9.28 CHD2 DCX GABRA1 GABRB3 GATM POLG

Drugs & Therapeutics for Lennox-Gastaut Syndrome

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
2
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
3 Central Nervous System Depressants Phase 4
4 Tranquilizing Agents Phase 4
5 Anti-Anxiety Agents Phase 4
6 GABA Agonists Phase 4
7 GABA-A Receptor Agonists Phase 4
8 Psychotropic Drugs Phase 4
9
Rufinamide Approved Phase 3 106308-44-5 129228
10
tannic acid Approved Phase 3 1401-55-4
11 sodium fluoride Approved Phase 3 7681-49-4
12
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
13 Strawberry Approved Phase 3
14
Ethanol Approved Phase 3 64-17-5 702
15
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
16
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
17
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
18
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
19
Vigabatrin Approved Phase 3 60643-86-9, 68506-86-5 5665
20
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
21
Topiramate Approved Phase 3 97240-79-4 5284627
22
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
23
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
24
Lorazepam Approved Phase 3 846-49-1 3958
25
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
26
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
27 Sodium Channel Blockers Phase 3
28 Diuretics, Potassium Sparing Phase 3
29 Listerine Phase 3
30 Soy Bean Phase 2, Phase 3
31 Calcium, Dietary Phase 2, Phase 3
32 Anticonvulsants Phase 3
33 Protective Agents Phase 3
34 Neurotransmitter Agents Phase 3
35 GABA Agents Phase 3
36 Sunflower Phase 3
37 Anti-Inflammatory Agents Phase 3
38 Neuroprotective Agents Phase 3
39 glucocorticoids Phase 3
40 Hormones Phase 3
41 Methylprednisolone Acetate Phase 3
42 Antineoplastic Agents, Hormonal Phase 3
43 Hormone Antagonists Phase 3
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
45 Prednisolone acetate Phase 3
46 Serotonin Uptake Inhibitors Phase 3
47 Neurotransmitter Uptake Inhibitors Phase 3
48 Serotonin Agents Phase 3
49 Hypoglycemic Agents Phase 3
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show all 49)
# 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 A Long Term Extension Study of E2080 in Lennox-Gastaut Patients Completed NCT01151540 Phase 3 Rufinamide
5 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Topiramate for Lennox-Gastaut Syndrome Completed NCT00004776 Phase 3 topiramate
6 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
7 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
8 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
9 Safety and Effectiveness of Open-Label Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT01160770 Phase 3 Clobazam
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 A Double-Blind Trial of Topiramate in Subjects With Lennox-Gastaut Syndrome. Completed NCT00236756 Phase 3 topiramate
12 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
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 NCT02224560 Phase 3 GWP42003-P;Placebo control
14 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
15 Evaluation Of The Efficacy Of The Modified Atkins Diet In Children With Refractory Epilepsy: A Randomized Controlled Trial. Completed NCT00836836 Phase 2, Phase 3
16 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
17 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
18 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
19 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
20 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
21 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)
22 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
23 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
24 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
25 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
26 Safety and Efficacy of Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT00162981 Phase 2 Clobazam Low Dose;Clobazam High Dose
27 A Double-Blind Randomized Placebo-Controlled Trial of Felbamate in Treatment Resistant Bipolar Depression Completed NCT00034229 Phase 2 Felbamate
28 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
29 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
30 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
31 Add-on Therapy With Low Dose Fenfluramine in Lennox Gastaut Epilepsy Active, not recruiting NCT02655198 Phase 2 Fenfluramine
32 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
33 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
34 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
35 Phase 1, Open-Label Study of Carisbamate in Adult and Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT04062981 Phase 1 Carisbamate
36 Phase I, Open-Label, Pharmacokinetic, Dose Escalation Study of Carisbamate in Adult and Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT03731715 Phase 1 Carisbamate
37 Cannabidiol in Children With Refractory Epileptic Encephalopathy: A Phase 1 Open Label Dose Escalation Study (CARE-E) Recruiting NCT03024827 Phase 1 CanniMed® 1:20
38 The Clinical Research on PINS Vagus Nerve Stimulator for Treatment of Lennox-Gastaut in Children Unknown status NCT02632149 Early Phase 1
39 European Registry of Anti-epileptic Drug Use in Patients With Lennox-Gastaut Syndrome (LGS). Completed NCT01991041
40 Efficacy of the Ketogenic Diet -- a Blinded Study Completed NCT00004729
41 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
42 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
43 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
44 Post-marketing Surveillance of Long-term Administration of Inovelon Tablets in Patients With Lennox-Gastaut Syndrome Recruiting NCT02175173 Rufinamide
45 Long-term Cardiac Monitoring in Epilepsy: Comparative Group Study to Assess Risk of Interictal and Ictal Cardiac Dysfunction Recruiting NCT03955432
46 An Extended Access Program (EAP) for Rufinamide in Pediatric Participants With Inadequately Controlled Lennox-Gastaut Syndrome Available NCT03778424 Rufinamide
47 Cognitive Impact of Benzodiazepin Withdrawn After Curative Epilepsy Surgery in Children With Focal Epilepsy Not yet recruiting NCT03803046
48 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680
49 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297

Search NIH Clinical Center for Lennox-Gastaut Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


clobazam
Clonazepam
Clonazepam
COLBAZAM
Rufinamide
Topiramate

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:

41
Brain, Testes, Eye, Cortex, Liver, Heart, Lung

Publications for Lennox-Gastaut Syndrome

Articles related to Lennox-Gastaut Syndrome:

(show top 50) (show all 1185)
# Title Authors PMID Year
1
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 38 71
25262651 2014
2
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. 71
29740950 2018
3
CHD2-Related Neurodevelopmental Disorders 71
26677509 2015
4
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. 71
27066543 2015
5
Large-scale discovery of novel genetic causes of developmental disorders. 71
25533962 2015
6
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 71
24207121 2013
7
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 71
23708187 2013
8
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 71
23020937 2012
9
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 9 38
19782004 2009
10
Interstitial Stereotactic Laser Anterior Corpus Callosotomy: A Report of 2 Cases with Operative Technique and Effectiveness. 38
29982584 2019
11
Novel bioanalytical method for the quantification of rufinamide in mouse plasma and tissues using HPLC-UV: A tool to support pharmacokinetic studies. 38
31279290 2019
12
An evaluation of clobazam tablets and film (AQST-120) for the treatment of Lennox-Gastaut syndrome. 38
31373526 2019
13
Dexmedetomidine for Electrocorticography in Patients With Lennox-Gastaut Syndrome Presenting for Epilepsy Surgery: A Case Report. 38
31008722 2019
14
Development of a classifier to identify patients with probable Lennox-Gastaut syndrome in health insurance claims databases via random forest methodology. 38
30870597 2019
15
Pharmacological and Therapeutic Properties of Cannabidiol for Epilepsy. 38
31372958 2019
16
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. 38
31022635 2019
17
Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy. 38
31179531 2019
18
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 38
31435640 2019
19
IRF2BPL gene mutation: Expanding on neurologic phenotypes. 38
31432588 2019
20
Evaluation of Selective 5-HT2C Agonists in Acute Seizure Models. 38
31082204 2019
21
Cannabidiol: A Review of Clinical Efficacy and Safety in Epilepsy. 38
31053391 2019
22
Prefrontal cortex in the driving seat of epileptic networks in Lennox-Gastaut syndrome. 38
31227616 2019
23
The epileptic network of Lennox-Gastaut syndrome: Cortically driven and reproducible across age. 38
31227617 2019
24
Therapeutic approach to Lennox-Gastaut syndrome: a systematic review. 38
31286465 2019
25
Evaluation of the Effects of Clobazam on Seizure Control and Quality of Life in Children With Lennox-Gastaut Syndrome: A Pilot Study. 38
30913948 2019
26
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 38
31255830 2019
27
Safety and Efficacy of Supratherapeutic Doses of Clobazam. 38
31215313 2019
28
Novel seizure outcomes in patients with Lennox-Gastaut syndrome: Post hoc analysis of seizure-free days in rufinamide Study 303. 38
31168494 2019
29
Cannabidiol: A New Hope for Patients With Dravet or Lennox-Gastaut Syndromes. 38
30616356 2019
30
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. 38
31190668 2019
31
A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. 38
31176687 2019
32
Surgery for epilepsy. 38
31237346 2019
33
Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21. 38
31113280 2019
34
Safety, efficacy, and mechanisms of action of cannabinoids in neurological disorders. 38
30910443 2019
35
The direct cost of seizure events in severe childhood-onset epilepsies: A retrospective claims-based analysis. 38
30831405 2019
36
Cannabinoid therapy in epilepsy. 38
30676535 2019
37
How often is antiseizure drug-free ketogenic diet therapy achieved? 38
30831398 2019
38
[Cannabis and cannabinoids-easier access, hype and disappointment : What has been confirmed in therapy?] 38
30680416 2019
39
Cannabidiol in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. 38
30740695 2019
40
Factors affecting epilepsy prognosis in patients with tuberous sclerosis. 38
30673834 2019
41
Don't Fear the Reefer-Evidence Mounts for Plant-Based Cannabidiol as Treatment for Epilepsy. 38
30955420 2019
42
What is the role of cannabidiol in refractory epilepsy? 38
30817475 2019
43
Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome. 38
30938373 2019
44
Industry update covering November 2018. 38
30909854 2019
45
Tonic status epilepticus in a centenarian woman. 38
30816845 2019
46
A Comprehensive Overview of the Clinical Pharmacokinetics of Clobazam. 38
30285275 2019
47
Evaluation of long-term safety, tolerability, and behavioral outcomes with adjunctive rufinamide in pediatric patients (≥1 to <4 years old) with Lennox-Gastaut syndrome: Final results from randomized study 303. 38
30309816 2019
48
Evaluation of WO2014121383 A1: a process for preparation of rufinamide and intermediates. 38
30442041 2019
49
Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review. 38
30804880 2019
50
The refractory epilepsy screening tool for Lennox-Gastaut syndrome (REST-LGS). 38
30537670 2019

Variations for Lennox-Gastaut Syndrome

ClinVar genetic disease variations for Lennox-Gastaut Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A NM_006920.6(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 2:166848878-166848878 2:165992368-165992368
2 POLG NM_002693.2(POLG): c.1402A> G (p.Asn468Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs145843073 15:89870429-89870429 15:89327198-89327198
3 ZEB2 NM_014795.4(ZEB2): c.3267A> C (p.Glu1089Asp) single nucleotide variant Uncertain significance rs1553960775 2:145147396-145147396 2:144389829-144389829
4 GATM NM_001482.3(GATM): c.367G> A (p.Ala123Thr) single nucleotide variant Uncertain significance 15:45661641-45661641 15:45369443-45369443
5 MAPK10 MAPK10, EX10-14DEL deletion Uncertain significance

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 12.09 STXBP1 SCN1A POMC DCX
2
Show member pathways
11.77 MT-ND1 MAPK10 GABRB3 GABRA1
3
Show member pathways
11.43 SCN1A DNM1 DCX
4 9.85 GABRB3 GABRA1

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 8.62 GABRB3 GABRA1

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

# Name GO ID Score Top Affiliating Genes
1 gamma-aminobutyric acid signaling pathway GO:0007214 9.26 GABRB3 GABRA1
2 layer formation in cerebral cortex GO:0021819 9.16 DCX ADGRG1
3 cellular response to histamine GO:0071420 8.96 GABRB3 GABRA1
4 regulation of membrane potential GO:0042391 8.92 SCN1A KCNT1 GABRB3 GABRA1

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 GABRB3 GABRA1
2 GABA-gated chloride ion channel activity GO:0022851 8.62 GABRB3 GABRA1

Sources for Lennox-Gastaut Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....