MCID: LNN001
MIFTS: 57

Lennox-Gastaut Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Lennox-Gastaut Syndrome

MalaCards integrated aliases for Lennox-Gastaut Syndrome:

Name: Lennox-Gastaut Syndrome 12 50 25 51 56 52 14 69
Epileptic Encephalopathy, Lennox-Gastaut Type 24 13
Epileptic Encephalopathy Lennox-Gastaut Type 50 29
Lennox Syndrome 12 69
Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves 25
Encephalopathy of Childhood 50
Lgs 25

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare neurological diseases


Summaries for Lennox-Gastaut Syndrome

NINDS : 51 Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.

MalaCards based summary : Lennox-Gastaut Syndrome, also known as epileptic encephalopathy, lennox-gastaut type, is related to epileptic encephalopathy, early infantile, 15 and neurodegeneration with brain iron accumulation 5, and has symptoms including myoclonus, focal seizures and encephalopathy. 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 Melatonin and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and nervous system

NIH Rare Diseases : 50 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. last updated: 9/17/2013

Genetics Home Reference : 25 Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability.

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 66)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 31.6 AKT3 KCNQ2 SCN1A ST3GAL3
2 neurodegeneration with brain iron accumulation 5 11.6
3 trichorhinophalangeal syndrome, type ii 11.6
4 myoclonic astatic epilepsy 11.5
5 scn1a-related seizure disorders 11.2
6 cdkl5-related disorder 11.2
7 scn2a related disorders 11.2
8 encephalopathy, acute, infection-induced, 4 10.8
9 lymphomatoid granulomatosis 10.8
10 exostoses, multiple, type 1 10.8
11 epilepsy 10.7
12 pseudoretinitis pigmentosa 10.6 MT-ND1 POMC
13 myoglobinuria dominant form 10.6 SCN1A SLC2A1
14 encephalopathy 10.5
15 reflex epilepsy 10.5 POMC TBC1D24
16 mental retardation, x-linked 29 and others 10.5 KCNQ2 TBC1D24
17 man1b1-cdg 10.4 SCN1A TBC1D24
18 glans penis cancer 10.4 KCNQ2 SCN1A SLC2A1
19 west syndrome 10.4
20 spinocerebellar degeneration 10.3 KCNQ2 SCN1A SLC2A1
21 gingival disease 10.3 KCNQ2 TBC1D24
22 childhood malignant schwannoma 10.3 SCN1A TBC1D24
23 status epilepticus 10.3
24 adolescence-adult electroclinical syndrome 10.3 KCNQ2 POMC SCN1A TBC1D24
25 cerebritis 10.2
26 spondylosis 10.2 SCN1A SLC2A1 TBC1D24
27 tuberous sclerosis 10.2
28 focal epilepsy 10.2
29 active cochlear meniere's disease 10.1 GABRB3 POMC
30 3-methylcrotonyl-coa carboxylase deficiency 10.1 GABRA1 GABRB3 SCN1A TBC1D24
31 urethral stricture 10.1 GABRA1 GABRB3 SLC2A1
32 otopalatodigital syndrome, type ii 10.1 ADGRG1 AKT3 DCX
33 bone cancer 10.1 GABRA1 GABRB3 KCNQ2 SCN1A
34 gaba aminotransferase deficiency 10.0 GABRA1 KCNQ2 SCN1A TBC1D24
35 dysphagia 10.0
36 angelman syndrome 10.0
37 acute disseminated encephalomyelitis 10.0
38 neuronitis 10.0
39 myoclonus 10.0
40 measles 10.0
41 eating seizures 10.0
42 tyrosinemia 10.0
43 common variable immunodeficiency 10.0
44 intracranial hypertension 10.0
45 hepatitis 10.0
46 polymicrogyria 10.0
47 hypospadias 10.0
48 cutis verticis gyrata 10.0
49 hemimegalencephaly 10.0
50 encephalomalacia 10.0

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:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 56 32 frequent (33%) Frequent (79-30%) HP:0001336
2 focal seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0007359
3 encephalopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001298
4 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 hyperactivity 56 32 frequent (33%) Frequent (79-30%) HP:0000752
6 aggressive behavior 56 32 frequent (33%) Frequent (79-30%) HP:0000718
7 falls 56 32 frequent (33%) Frequent (79-30%) HP:0002527
8 generalized tonic-clonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002069
9 mental deterioration 56 32 frequent (33%) Frequent (79-30%) HP:0001268
10 atonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0010819
11 autistic behavior 56 32 frequent (33%) Frequent (79-30%) HP:0000729
12 atypical absence seizures 56 32 frequent (33%) Frequent (79-30%) HP:0007270
13 personality disorder 56 32 frequent (33%) Frequent (79-30%) HP:0012075
14 generalized myoclonic seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002123
15 abnormality of brainstem morphology 56 32 frequent (33%) Frequent (79-30%) HP:0002363
16 eeg with focal sharp slow waves 56 32 hallmark (90%) Very frequent (99-80%) HP:0011195
17 generalized tonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0010818
18 eeg abnormality 56 Frequent (79-30%)
19 behavioral abnormality 56 Frequent (79-30%)

UMLS symptoms related to Lennox-Gastaut Syndrome:


hemiplegia, seizures

MGI Mouse Phenotypes related to Lennox-Gastaut Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 DNM1 GABRA1 GABRB2 GABRB3 KCNQ2 MAPK10
2 nervous system MP:0003631 9.73 ADGRG1 AKT3 DCX DNM1 GABRA1 GABRB2
3 no phenotypic analysis MP:0003012 9.17 SLC2A1 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 33)
id 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
3 Central Nervous System Depressants Phase 4
4 Protective Agents Phase 4,Phase 3,Phase 1
5
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
6
Clobazam Approved, Illicit Phase 3,Phase 2 22316-47-8 2789
7 sodium fluoride Approved Phase 3 7681-49-4
8
Ethanol Approved Phase 3 64-17-5 702
9
Topiramate Approved Phase 3,Phase 1 97240-79-4 5284627
10
Ezogabine Approved Phase 3,Phase 2 150812-12-7 121892
11 tannic acid Approved, Nutraceutical Phase 3
12 Strawberry Approved, Nutraceutical Phase 3
13 Anticonvulsants Phase 3,Phase 2,Phase 1
14 Listerine Phase 3
15 Pharmaceutical Solutions Phase 3
16 Anti-Obesity Agents Phase 3,Phase 1
17 Neuroprotective Agents Phase 3,Phase 1
18 Neurotransmitter Agents Phase 2
19 Neurotransmitter Uptake Inhibitors Phase 2
20
Serotonin Phase 2 50-67-9 5202
21 Serotonin Agents Phase 2
22 Serotonin Uptake Inhibitors Phase 2
23
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078 2978
24
Lamotrigine Approved, Investigational 84057-84-1 3878
25 calcium channel blockers
26 Calcium, Dietary
27 Diuretics, Potassium Sparing
28 Excitatory Amino Acid Antagonists
29 Excitatory Amino Acids
30 Sodium Channel Blockers
31 Fluorodeoxyglucose F18
32 Turmeric extract
33 Turmeric Nutraceutical

Interventional clinical trials:

(show all 33)

id 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 Safety and Effectiveness of Open-Label Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT01160770 Phase 3 Clobazam
6 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;Placebo Control
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 NCT02224560 Phase 3 GWP42003-P;Placebo control
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 E2080
12 Study to Determine the Efficacy and Safety of Adjunctive Topiramate in the Treatment of Obsessive-Compulsive Disorder Completed NCT00187928 Phase 3 Topiramate
13 Study of Perampanel as Adjunctive Treatment for Inadequately Controlled Seizures Associated With Lennox-Gastaut Syndrome Recruiting NCT02834793 Phase 3 Perampanel;Placebo
14 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder Active, not recruiting NCT02318602 Phase 3 Cannabidiol Oral Solution
15 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
16 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Lennox-Gastaut Syndrome Not yet recruiting NCT02318537 Phase 3 Cannabidiol Oral Solution;Placebo Solution
17 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
18 Clobazam in Subjects With Lennox-Gastaut Syndrome Completed NCT00162981 Phase 2 Clobazam Low Dose;Clobazam High Dose
19 Add-on Therapy With Low Dose Fenfluramine in Lennox Gastaut Epilepsy Active, not recruiting NCT02655198 Phase 2 Fenfluramine
20 Study in Pediatric Subjects With Epilepsy Terminated NCT01494584 Phase 2 ezogabine/retigabine
21 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
22 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
23 Epilepsy Phenome/Genome Project Unknown status NCT00552045
24 European Registry of Anti-Epileptic Drug Use in Patients With Lennox-Gastaut Syndrome (LGS) Completed NCT01991041
25 A Study of the Safety of Topiramate Given in Combination With Other Medications in Adults and Children With Seizures Completed NCT00297349 Topiramate
26 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729
27 Special Drug Use Investigation for LAMICTAL® (Long Term) Completed NCT01863602 Lamotrigine tablets
28 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
29 Trial to Assess Vagus Nerve Stimulation Therapy in Children With Lennox-Gastaut Syndrome Recruiting NCT02632149 Early Phase 1
30 Post-marketing Surveillance of Long-term Administration of Inovelon Tablets in Patients With Lennox-Gastaut Syndrome Active, not recruiting NCT02175173 Rufinamide
31 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Not yet recruiting NCT02910297
32 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Not yet recruiting NCT02815540 Cannabadiol
33 Turmeric as Treatment in Epilepsy Not yet recruiting NCT03254680

Search NIH Clinical Center for Lennox-Gastaut Syndrome

Genetic Tests for Lennox-Gastaut Syndrome

Genetic tests related to Lennox-Gastaut Syndrome:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy Lennox-Gastaut Type 29
2 Epileptic Encephalopathy, Lennox-Gastaut Type 24 MAPK10

Anatomical Context for Lennox-Gastaut Syndrome

MalaCards organs/tissues related to Lennox-Gastaut Syndrome:

39
Brain, Eye, Cortex, Liver, Heart, Thalamus

Publications for Lennox-Gastaut Syndrome

Articles related to Lennox-Gastaut Syndrome:

(show top 50) (show all 313)
id Title Authors Year
1
Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. ( 28186331 )
2017
2
Treatment-resistant Lennox-Gastaut syndrome: therapeutic trends, challenges and future directions. ( 28461749 )
2017
3
Dosing considerations for rufinamide in patients with Lennox-Gastaut syndrome: Phase III trial results and real-world clinical data. ( 28284045 )
2017
4
Use and cost comparison of clobazam to other antiepileptic drugs for treatment of Lennox-Gastaut syndrome. ( 28740620 )
2017
5
Ophthalmologic Features of Lennox-Gastaut Syndrome. ( 28471101 )
2017
6
Assessment of treatment patterns and healthcare costs associated with probable Lennox-Gastaut syndrome. ( 28609734 )
2017
7
Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features. ( 28584915 )
2017
8
Electroencephalography Network Effects of Corpus Callosotomy in Patients with Lennox-Gastaut Syndrome. ( 28928710 )
2017
9
Early Diagnosis and Treatment of Lennox-Gastaut Syndrome. ( 28689466 )
2017
10
Real-world data on rufinamide treatment in patients with Lennox-Gastaut syndrome: Results from a European noninterventional registry study. ( 28927712 )
2017
11
Lennox-Gastaut Syndrome: A Prospective Follow-up Study. ( 28479797 )
2017
12
Cognitive network reorganization following surgical control of seizures in Lennox-Gastaut syndrome. ( 28295228 )
2017
13
Use of perampanel in children and adolescents with Lennox-Gastaut Syndrome. ( 28715780 )
2017
14
Lennox-Gastaut Syndrome: A State of the Art Review. ( 28346953 )
2017
15
Spectral characteristics of intracranial electroencephalographic activity in patients with Lennox-Gastaut syndrome. ( 27686687 )
2017
16
Adjunctive use of electroconvulsive therapy in patients with Lennox-Gastaut syndrome and drug-resistant epilepsy: A pilot study. ( 28210578 )
2016
17
Combined surgical intervention with vagus nerve stimulation following corpus callosotomy in patients with Lennox-Gastaut syndrome. ( 26979179 )
2016
18
Anesthetic management of a child with Lennox-Gastaut syndrome with intractable epilepsy posted for intracranial surgery! ( 27857813 )
2016
19
Drug-resistant epilepsy after treatment for childhood acute lymphocytic leukaemia: from focal epilepsy to Lennox-Gastaut syndrome. ( 27934621 )
2016
20
Lacosamide in Lennox-Gastaut Syndrome? Caution Is Still Needed. ( 27827811 )
2016
21
Treatment of Adults with Lennox-Gastaut Syndrome: Further Analysis of Efficacy and Safety/Tolerability of Rufinamide. ( 26861566 )
2016
22
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1. ( 27052529 )
2016
23
An Observational Report of Worsening Seizures with Increase in Total Charge Delivered Per Day by Vagus Nerve Stimulation in 4 Patients with Lennox-Gastaut Syndrome. ( 26705197 )
2016
24
Nocturnal interictal epileptic discharges in adult Lennox-Gastaut syndrome: the effect of sleep stage and time of night. ( 26842220 )
2016
25
Challenges in identifying Lennox-Gastaut syndrome in adults: A case series illustrating its changing nature. ( 26977407 )
2016
26
Resective surgery combined with corpus callosotomy for children with non-focal lesional Lennox-Gastaut syndrome. ( 27629372 )
2016
27
Predictive role of brain connectivity for resective surgery in Lennox-Gastaut syndrome. ( 27417063 )
2016
28
Safety and pharmacokinetic profile of rufinamide in pediatric patients aged less than 4 years with Lennox-Gastaut syndrome: An interim analysis from a multicenter, randomized, active-controlled, open-label study. ( 26805435 )
2016
29
Pontine and cerebral atrophy in Lennox-Gastaut syndrome. ( 26808205 )
2016
30
Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome: A Pilot Study. ( 27199889 )
2016
31
Clobazam-treated patients with Lennox-Gastaut syndrome experienced fewer seizure-related injuries than placebo patients during trial OV-1012. ( 27145465 )
2016
32
Therapeutic effects of the ketogenic diet in children with Lennox-Gastaut syndrome. ( 27846468 )
2016
33
Abnormal cognitive network interactions in Lennox-Gastaut syndrome: A potential mechanism of epileptic encephalopathy. ( 26945476 )
2016
34
Brainstem dysfunction in patients with late-onset Lennox-Gastaut syndrome: Voxel-based morphometry and tract-based spatial statistics study. ( 27994367 )
2016
35
Long-term safety and seizure outcome in Japanese patients with Lennox-Gastaut syndrome receiving adjunctive rufinamide therapy: An open-label study following a randomized clinical trial. ( 26827266 )
2016
36
The causal epileptic network identifies the primary epileptogenic zone in Lennox-Gastaut syndrome. ( 26513494 )
2015
37
Long-term prognosis of patients with Lennox--Gastaut syndrome in recent decades. ( 25616450 )
2015
38
Lennox-Gastaut syndrome may be a curable, reversible epileptic encephalopathy. ( 25778755 )
2015
39
Retention rates of rufinamide in pediatric epilepsy patients with and without Lennox-Gastaut Syndrome. ( 25847334 )
2015
40
Clobazam and Aggression-Related Adverse Events in Pediatric Patients With Lennox-Gastaut Syndrome. ( 26245776 )
2015
41
Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome. ( 25935511 )
2015
42
Relationship of Lennox-Gastaut syndrome with perinatal event: A cross-sectional study. ( 26167208 )
2015
43
Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy. ( 26474092 )
2015
44
Comprehensive overview: efficacy, tolerability, and cost-effectiveness of clobazam in Lennox-Gastaut syndrome. ( 26089675 )
2015
45
Management of difficult airway with inhalation induction in a patient with Lennox-Gastaut syndrome and neck injury. ( 25687944 )
2015
46
Lennox-Gastaut syndrome. Management update. ( 26166587 )
2015
47
Clobazam is equally safe and efficacious for seizures associated with Lennox-Gastaut syndrome across different age groups: Post hoc analyses of short- and long-term clinical trial results. ( 25940107 )
2015
48
In response: Lennox-Gastaut syndrome may be a curable, reversible epileptic encephalopathy. ( 25778756 )
2015
49
Efficacy and tolerability of add-on Lacosamide treatment in adults with Lennox-Gastaut syndrome: An observational study. ( 26606192 )
2015
50
CHD2 mutations in Lennox-Gastaut syndrome. ( 24614520 )
2014

Variations for Lennox-Gastaut Syndrome

ClinVar genetic disease variations for Lennox-Gastaut Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878

Expression for Lennox-Gastaut Syndrome

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

Pathways for Lennox-Gastaut Syndrome

GO Terms for Lennox-Gastaut Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 9.33 GABRA1 GABRB2 GABRB3
2 node of Ranvier GO:0033268 9.32 KCNQ2 SCN1A
3 axon initial segment GO:0043194 9.26 KCNQ2 SCN1A
4 GABA receptor complex GO:1902710 8.96 GABRA1 GABRB2
5 GABA-A receptor complex GO:1902711 8.8 GABRA1 GABRB2 GABRB3

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

id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.65 GABRA1 GABRB2 GABRB3 KCNQ2 SCN1A
2 chloride transmembrane transport GO:1902476 9.63 GABRA1 GABRB2 GABRB3
3 chloride transport GO:0006821 9.61 GABRA1 GABRB2 GABRB3
4 neuron development GO:0048666 9.5 GABRB2 GABRB3 MAPK10
5 innervation GO:0060384 9.48 GABRB2 GABRB3
6 layer formation in cerebral cortex GO:0021819 9.4 ADGRG1 DCX
7 inner ear receptor cell development GO:0060119 9.37 GABRB2 GABRB3
8 gamma-aminobutyric acid signaling pathway GO:0007214 9.33 GABRA1 GABRB2 GABRB3
9 cellular response to histamine GO:0071420 9.13 GABRA1 GABRB2 GABRB3
10 synaptic transmission, GABAergic GO:0051932 8.8 DNM1 GABRA1 GABRB2

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.54 GABRA1 GABRB2 GABRB3
2 extracellular ligand-gated ion channel activity GO:0005230 9.5 GABRA1 GABRB2 GABRB3
3 ion channel activity GO:0005216 9.46 GABRA1 GABRB2 GABRB3 SCN1A
4 GABA-gated chloride ion channel activity GO:0022851 9.26 GABRA1 GABRB3
5 GABA receptor activity GO:0016917 8.96 GABRA1 GABRB2
6 GABA-A receptor activity GO:0004890 8.8 GABRA1 GABRB2 GABRB3

Sources for Lennox-Gastaut Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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