MCID: LNN001
MIFTS: 59

Lennox-Gastaut Syndrome

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 77 54 26 55 60 38 56 6 15 74
Epileptic Encephalopathy Lennox-Gastaut Type 54 30 6
Lennox Syndrome 12 74
Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves 26
Epileptic Encephalopathy, Lennox-Gastaut Type 13
Encephalopathy of Childhood 54
Lgs 26

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050561
KEGG 38 H01813
MESH via Orphanet 46 C535500
ICD10 via Orphanet 35 G40.4
UMLS via Orphanet 75 C0238111
Orphanet 60 ORPHA2382

Summaries for Lennox-Gastaut Syndrome

NINDS : 55 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.

MalaCards based summary : Lennox-Gastaut Syndrome, also known as epileptic encephalopathy lennox-gastaut type, is related to epilepsy with myoclonic-atonic seizures and 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 Transmission across Chemical Synapses and Sweet Taste Signaling. The drugs Melatonin and Antioxidants 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

Wikipedia : 77 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 89)
# Related Disease Score Top Affiliating Genes
1 epilepsy with myoclonic-atonic seizures 31.3 CHD2 SCN1A
2 epilepsy 31.0 CHD2 DCX GABRA1 GABRB3 KCNT1 SCN1A
3 west syndrome 30.9 ALG13 KCNT1 MT-ND1 POMC SCN1A ST3GAL3
4 epileptic encephalopathy, early infantile, 6 30.0 CHD2 CYP2C19 GABRA1 GABRB3 KCNT1 SCN1A
5 neurodegeneration with brain iron accumulation 5 12.2
6 trichorhinophalangeal syndrome, type ii 11.9
7 epileptic encephalopathy, early infantile, 15 11.5
8 scn1a-related seizure disorders 11.5
9 encephalopathy, acute, infection-induced 4 11.5
10 exostoses, multiple, type i 11.1
11 lymphomatoid granulomatosis 11.1
12 continuous spike-wave during slow sleep syndrome 10.9
13 encephalopathy 10.8
14 seizure disorder 10.7
15 status epilepticus 10.6
16 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
17 tuberous sclerosis 10.4
18 childhood absence epilepsy 10.4
19 focal epilepsy 10.4
20 acute necrotizing encephalopathy 10.3
21 angelman syndrome 10.2
22 down syndrome 10.2
23 autism 10.2
24 moyamoya disease 1 10.2
25 myoclonic epilepsy of unverricht and lundborg 10.2
26 leigh syndrome 10.2
27 polymicrogyria, bilateral frontoparietal 10.2
28 myoclonic-atonic epilepsy 10.2
29 hepatitis 10.2
30 autism spectrum disorder 10.2
31 hypospadias 10.2
32 encephalomalacia 10.2
33 astrocytoma 10.2
34 early myoclonic encephalopathy 10.2
35 acute disseminated encephalomyelitis 10.2
36 localized scleroderma 10.2
37 measles 10.2
38 tyrosinemia 10.2
39 intracranial hypertension 10.2
40 polymicrogyria 10.2
41 chromosomal triplication 10.2
42 cutis verticis gyrata 10.2
43 dandy-walker complex 10.2
44 hemimegalencephaly 10.2
45 pachygyria 10.2
46 myoclonus 10.2
47 cerebral atrophy 10.2
48 dysphagia 10.2
49 myoclonic-astastic epilepsy 10.2
50 infancy electroclinical syndrome 10.2 POMC SCN1A STXBP1

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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001298
3 eeg with focal sharp slow waves 60 33 hallmark (90%) Very frequent (99-80%) HP:0011195
4 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
5 falls 60 33 frequent (33%) Frequent (79-30%) HP:0002527
6 generalized tonic-clonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002069
7 generalized tonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0010818
8 aggressive behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000718
9 mental deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0001268
10 atypical absence seizure 60 33 frequent (33%) Frequent (79-30%) HP:0007270
11 atonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0010819
12 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
13 hyperactivity 60 33 frequent (33%) Frequent (79-30%) HP:0000752
14 abnormality of brainstem morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002363
15 personality disorder 60 33 frequent (33%) Frequent (79-30%) HP:0012075
16 generalized myoclonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002123
17 focal-onset seizure 60 33 occasional (7.5%) Occasional (29-5%) HP:0007359
18 eeg abnormality 60 Frequent (79-30%)
19 behavioral abnormality 60 Frequent (79-30%)

UMLS symptoms related to Lennox-Gastaut Syndrome:


hemiplegia

MGI Mouse Phenotypes related to Lennox-Gastaut Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ADGRG1 CHD2 DCX DNM1 GABRA1 GABRB2
2 nervous system MP:0003631 9.73 ADGRG1 CUX2 DCX DNM1 GABRA1 GABRB2
3 no phenotypic analysis MP:0003012 9.23 CUX2 DNM1 GABRA1 GABRB3 MAPK10 POMC

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
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
2 Antioxidants Phase 4,Not Applicable
3 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
4 Protective Agents Phase 4,Not Applicable
5
Rufinamide Approved Phase 3 106308-44-5 129228
6
Ethanol Approved Phase 3 64-17-5 702
7 Strawberry Approved Phase 3
8
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
9
tannic acid Approved Phase 3 1401-55-4
10 sodium fluoride Approved Phase 3 7681-49-4
11
Clobazam Approved, Illicit Phase 3,Phase 2 22316-47-8 2789
12
Topiramate Approved Phase 3,Phase 1 97240-79-4 5284627
13
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
14
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
15
Ezogabine Approved, Investigational Phase 3,Phase 2 150812-12-7 121892
16
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
17 Anticonvulsants Phase 3,Phase 2,Phase 1
18 Sodium Channel Blockers Phase 3
19 Diuretics, Potassium Sparing Phase 3
20 Epidiolex Phase 3,Phase 1,Phase 2
21 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2
22 Tranquilizing Agents Phase 3,Phase 2
23 GABA-A Receptor Agonists Phase 3,Phase 2
24 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
25 GABA Agents Phase 3,Phase 2
26 Anti-Anxiety Agents Phase 3,Phase 2
27 Listerine Phase 3
28 GABA Agonists Phase 3,Phase 2
29 Psychotropic Drugs Phase 3,Phase 2
30 Hypoglycemic Agents Phase 3,Phase 1
31 Calcium, Dietary Phase 3
32 Antipsychotic Agents Phase 3
33 Hormones Phase 3
34 calcium channel blockers Phase 3
35 Serotonin Uptake Inhibitors Phase 3,Phase 1,Phase 2
36 Serotonin Agents Phase 3,Phase 1,Phase 2
37 Neurotransmitter Uptake Inhibitors Phase 3,Phase 1,Phase 2
38
Serotonin Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 50-67-9 5202
39
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
40 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
2 Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
3 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304) Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
4 Study of Rufinamide in Pediatric Subjects 1 to Less Than 4 Years of Age With Lennox-Gastaut Syndrome Inadequately Controlled With Other Anti-epileptic Drugs Completed NCT01405053 Phase 3 Rufinamide;Any other approved AED
5 Efficacy and Safety of GWP42003-P for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults Completed NCT02224560 Phase 3 GWP42003-P;Placebo control
6 Safety and Effectiveness of Open-Label Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT01160770 Phase 3 Clobazam
7 A 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
8 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Topiramate for Lennox-Gastaut Syndrome Completed NCT00004776 Phase 3 topiramate
9 Clobazam in Patients With Lennox-Gastaut Syndrome Completed NCT00518713 Phase 3 Clobazam Low Dose;Clobazam Medium Dose;Clobazam High Dose;Placebo
10 A Study of the Efficacy and Safety of Topiramate as an add-on Therapy in the Treatment of Epilepsy Patients With Lennox-Gastaut Syndrome Completed NCT00236756 Phase 3 topiramate
11 A Long Term Extension Study of E2080 in Lennox-Gastaut Patients Completed NCT01151540 Phase 3 Rufinamide
12 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Completed NCT02318602 Phase 3 Cannabidiol Oral Solution
13 Study to Determine the Efficacy and Safety of Adjunctive Topiramate in the Treatment of Obsessive-Compulsive Disorder Completed NCT00187928 Phase 3 Topiramate
14 Clinical Evaluation of BW430C in Epilepsy Completed NCT00395694 Phase 3 lamictal
15 Study of Perampanel as Adjunctive Treatment for Inadequately Controlled Seizures Associated With Lennox-Gastaut Syndrome Recruiting NCT02834793 Phase 3 Placebo;Perampanel
16 A Study to Investigate the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) as an Adjunctive Therapy in Children and Adults With Lennox-Gastaut Syndrome Recruiting NCT03355209 Phase 3 ZX008 02 and 0.8 mg/kg/day
17 GWPCARE5 - An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut Syndromes Enrolling by invitation NCT02224573 Phase 3 GWP42003-P
18 A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
19 Long-term, Open-label Safety Extension Study of Retigabine/Ezogabine in Pediatric Subjects (>= 12 Years Old) With POS or LGS Terminated NCT01668654 Phase 3 retigabine/ezogabine
20 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Lennox-Gastaut Syndrome Withdrawn NCT02318537 Phase 3 Cannabidiol Oral Solution;Placebo Solution
21 Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT00162981 Phase 2 Clobazam Low Dose;Clobazam High Dose
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 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 Recruiting NCT03650452 Phase 2 TAK-935;Placebo
24 A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBD Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
25 Add-on Therapy With Low Dose Fenfluramine in Lennox Gastaut Epilepsy Active, not recruiting NCT02655198 Phase 2 Fenfluramine
26 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
27 Study in Pediatric Subjects With Epilepsy Terminated NCT01494584 Phase 2 ezogabine/retigabine
28 A Study of the Pharmacokinetics, Safety and Tolerability of Topiramate in Infants (Age 1-24 Months) With Refractory Partial-onset Seizures Completed NCT00233012 Phase 1 Topiramate
29 Carisbamate in Adult & Pediatric Subjects With Lennox-Gastaut Syndrome Recruiting NCT03731715 Phase 1 Carisbamate
30 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
31 Trial to Assess Vagus Nerve Stimulation Therapy in Children With Lennox-Gastaut Syndrome Unknown status NCT02632149 Early Phase 1
32 European Registry of Anti-Epileptic Drug Use in Patients With Lennox-Gastaut Syndrome (LGS) Completed NCT01991041
33 A Study of the Safety of Topiramate Given in Combination With Other Medications in Adults and Children With Seizures Completed NCT00297349 Topiramate
34 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729 Not Applicable
35 Special Drug Use Investigation for LAMICTAL® (Long Term) Completed NCT01863602 Lamotrigine tablets
36 Epilepsy Phenome/Genome Project Completed NCT00552045
37 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
38 Post-marketing Surveillance of Long-term Administration of Inovelon Tablets in Patients With Lennox-Gastaut Syndrome Recruiting NCT02175173 Rufinamide
39 Long-term Cardiac Monitoring in Epilepsy Recruiting NCT03955432 Not Applicable
40 An Extended Access Program (EAP) for Participants Who Have Completed Rufinamide Study E2080-G000-303 Available NCT03778424 Rufinamide
41 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297
42 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680 Not Applicable

Search NIH Clinical Center for Lennox-Gastaut Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Lennox-Gastaut Syndrome

Genetic tests related to Lennox-Gastaut Syndrome:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy Lennox-Gastaut Type 30

Anatomical Context for Lennox-Gastaut Syndrome

MalaCards organs/tissues related to Lennox-Gastaut Syndrome:

42
Brain, Testes, Eye, Heart, Cortex, Liver, Thalamus

Publications for Lennox-Gastaut Syndrome

Articles related to Lennox-Gastaut Syndrome:

(show top 50) (show all 365)
# Title Authors Year
1
Dexmedetomidine for Electrocorticography in Patients With Lennox-Gastaut Syndrome Presenting for Epilepsy Surgery: A Case Report. ( 31008722 )
2019
2
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. ( 30309816 )
2019
3
Lennox-Gastaut Syndrome in Mitochondrial Disease. ( 30554497 )
2019
4
Cannabidiol in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. ( 30740695 )
2019
5
Forced normalization after turning off vagus nerve stimulation in Lennox-Gastaut syndrome. ( 30788214 )
2019
6
Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review. ( 30804880 )
2019
7
Development of a classifier to identify patients with probable Lennox-Gastaut syndrome in health insurance claims databases via random forest methodology. ( 30870597 )
2019
8
Evaluation of the Effects of Clobazam on Seizure Control and Quality of Life in Children With Lennox-Gastaut Syndrome: A Pilot Study. ( 30913948 )
2019
9
Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome. ( 30938373 )
2019
10
Long-term safety and efficacy of cannabidiol in children and adults with treatmentresistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. ( 31022635 )
2019
11
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
12
The refractory epilepsy screening tool for Lennox-Gastaut syndrome (REST-LGS). ( 30537670 )
2018
13
Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome. ( 30194277 )
2018
14
Rufinamide efficacy and safety in children aged 1-4 years with Lennox-Gastaut syndrome. ( 30166208 )
2018
15
Burden of illness in patients with possible Lennox-Gastaut syndrome: A retrospective claims-based study. ( 30241056 )
2018
16
Evolution and course of early life developmental encephalopathic epilepsies: Focus on Lennox-Gastaut syndrome. ( 30255934 )
2018
17
A Case of Lennox-Gastaut Syndrome in a 6-Year-Old Child with Moyamoya Disease. ( 30271075 )
2018
18
Sulthiame add-on therapy in children with Lennox-Gastaut syndrome: A study of 44 patients. ( 30286409 )
2018
19
Improved seizure control and regaining cognitive milestones after vagus nerve stimulation revision surgery in Lennox-Gastaut syndrome. ( 30364578 )
2018
20
The pharmacological management of Lennox-Gastaut syndrome and critical literature review. ( 30391662 )
2018
21
Lennox-Gastaut Syndrome: In a Nutshell. ( 30410820 )
2018
22
Late-onset Lennox-Gastaut syndrome: Diagnostic evaluation and outcome. ( 30564493 )
2018
23
Lennox-Gastaut syndrome: a comprehensive review. ( 29124439 )
2018
24
Optimizing clobazam treatment in patients with Lennox-Gastaut syndrome. ( 29202277 )
2018
25
Rufinamide for the treatment of Lennox-Gastaut syndrome: evidence from clinical trials and clinical practice. ( 29313492 )
2018
26
Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial. ( 29395273 )
2018
27
Cannabidiol for drop seizures in Lennox-Gastaut syndrome. ( 29395274 )
2018
28
Changes in functional brain network topology after successful and unsuccessful corpus callosotomy for Lennox-Gastaut Syndrome. ( 29467376 )
2018
29
Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome. ( 29768152 )
2018
30
Addition of Cannabidiol to Current Antiepileptic Therapy Reduces Drop Seizures in Children and Adults With Treatment-Resistant Lennox-Gastaut Syndrome. ( 29887290 )
2018
31
Lacosamide-induced excessive laughing in a patient with Lennox-Gastaut syndrome. ( 30057867 )
2018
32
Efficacy and Safety of Adjunctive Cannabidiol in Patients with Lennox-Gastaut Syndrome: A Systematic Review and Meta-Analysis. ( 30132269 )
2018
33
Cannabidiol in the Lennox-Gastaut Syndrome. ( 30134132 )
2018
34
Cannabidiol in the Lennox-Gastaut Syndrome. ( 30136545 )
2018
35
Cannabidiol in the Lennox-Gastaut Syndrome. ( 30136546 )
2018
36
A pilot, open-label study of the effectiveness and tolerability of low-dose ZX008 (fenfluramine HCl) in Lennox-Gastaut syndrome. ( 30146701 )
2018
37
Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features. ( 28584915 )
2017
38
Spectral characteristics of intracranial electroencephalographic activity in patients with Lennox-Gastaut syndrome. ( 27686687 )
2017
39
Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. ( 28186331 )
2017
40
Dosing considerations for rufinamide in patients with Lennox-Gastaut syndrome: Phase III trial results and real-world clinical data. ( 28284045 )
2017
41
Cognitive network reorganization following surgical control of seizures in Lennox-Gastaut syndrome. ( 28295228 )
2017
42
Lennox-Gastaut Syndrome: A State of the Art Review. ( 28346953 )
2017
43
Treatment-resistant Lennox-Gastaut syndrome: therapeutic trends, challenges and future directions. ( 28461749 )
2017
44
Ophthalmologic Features of Lennox-Gastaut Syndrome. ( 28471101 )
2017
45
Lennox-Gastaut Syndrome: A Prospective Follow-up Study. ( 28479797 )
2017
46
Assessment of treatment patterns and healthcare costs associated with probable Lennox-Gastaut syndrome. ( 28609734 )
2017
47
Early Diagnosis and Treatment of Lennox-Gastaut Syndrome. ( 28689466 )
2017
48
Use of perampanel in children and adolescents with Lennox-Gastaut Syndrome. ( 28715780 )
2017
49
Use and cost comparison of clobazam to other antiepileptic drugs for treatment of Lennox-Gastaut syndrome. ( 28740620 )
2017
50
Real-world data on rufinamide treatment in patients with Lennox-Gastaut syndrome: Results from a European noninterventional registry study. ( 28927712 )
2017

Variations for Lennox-Gastaut Syndrome

ClinVar genetic disease variations for Lennox-Gastaut Syndrome:

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 GABRA1 GABRB2 GABRB3 GABRR3 STXBP1
2
Show member pathways
12.73 GABRA1 GABRB2 GABRB3 GABRR3 KCNT1 MAPK10
3 12.35 DCX POMC SCN1A STXBP1
4
Show member pathways
12.23 GABRA1 GABRB2 GABRB3 GABRR3
5
Show member pathways
12.15 GABRA1 GABRB2 GABRB3 GABRR3 MAPK10 MT-ND1
6
Show member pathways
12.13 GABRA1 GABRB2 GABRB3 MAPK10
7
Show member pathways
11.77 DCX DNM1 SCN1A
8
Show member pathways
11.76 GABRA1 GABRB2 GABRB3 GABRR3
9 11.71 CYP2C19 GABRB2 GABRB3
10
Show member pathways
10.88 GABRA1 GABRB2 GABRB3 GABRR3
11
Show member pathways
10.71 GABRA1 GABRB2
12 10.66 GABRA1 GABRB2 GABRB3
13 10.53 GABRA1 GABRB2 GABRB3 GABRR3

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 synapse GO:0045202 9.8 DNM1 GABRA1 GABRB2 GABRB3 GABRR3
2 neuron projection GO:0043005 9.72 DCX GABRA1 GABRB2 GABRB3 GABRR3
3 postsynaptic membrane GO:0045211 9.55 DNM1 GABRA1 GABRB2 GABRB3 GABRR3
4 GABA-ergic synapse GO:0098982 9.54 GABRA1 GABRB2 GABRB3
5 GABA receptor complex GO:1902710 9.26 GABRA1 GABRB2
6 chloride channel complex GO:0034707 9.26 GABRA1 GABRB2 GABRB3 GABRR3
7 GABA-A receptor complex GO:1902711 8.92 GABRA1 GABRB2 GABRB3 GABRR3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 GABRA1 GABRB2 GABRB3 GABRR3 KCNT1 SCN1A
2 ion transmembrane transport GO:0034220 9.8 GABRA1 GABRB2 GABRB3 GABRR3 SCN1A
3 chemical synaptic transmission GO:0007268 9.78 GABRA1 GABRB2 GABRB3 GABRR3
4 negative regulation of neuron apoptotic process GO:0043524 9.72 GABRB2 GABRB3 STXBP1
5 chloride transmembrane transport GO:1902476 9.67 GABRA1 GABRB2 GABRB3 GABRR3
6 chloride transport GO:0006821 9.62 GABRA1 GABRB2 GABRB3 GABRR3
7 nervous system process GO:0050877 9.56 GABRA1 GABRB2 GABRB3 GABRR3
8 regulation of neuron apoptotic process GO:0043523 9.54 GABRB2 GABRB3
9 innervation GO:0060384 9.52 GABRB2 GABRB3
10 layer formation in cerebral cortex GO:0021819 9.51 ADGRG1 DCX
11 synaptic transmission, GABAergic GO:0051932 9.49 GABRA1 GABRB2
12 inner ear receptor cell development GO:0060119 9.46 GABRB2 GABRB3
13 cellular response to histamine GO:0071420 9.33 GABRA1 GABRB2 GABRB3
14 gamma-aminobutyric acid signaling pathway GO:0007214 9.26 GABRA1 GABRB2 GABRB3 GABRR3
15 regulation of membrane potential GO:0042391 9.1 GABRA1 GABRB2 GABRB3 GABRR3 KCNT1 SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.56 GABRA1 GABRB2 GABRB3 GABRR3
2 ion channel activity GO:0005216 9.55 GABRA1 GABRB2 GABRB3 GABRR3 SCN1A
3 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.54 GABRA1 GABRB2 GABRB3
4 GABA-gated chloride ion channel activity GO:0022851 9.43 GABRA1 GABRB3
5 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.4 GABRA1 GABRB2
6 GABA receptor activity GO:0016917 9.32 GABRA1 GABRB2
7 extracellular ligand-gated ion channel activity GO:0005230 9.26 GABRA1 GABRB2 GABRB3 GABRR3
8 GABA-A receptor activity GO:0004890 8.92 GABRA1 GABRB2 GABRB3 GABRR3

Sources for Lennox-Gastaut Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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