Aliases & Classifications for West Syndrome

MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 41 12 76 53 54 59 37 29 6 15 40 73
X-Linked Infantile Spasm Syndrome 53 73
Infantile Spasm 53 73
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 53
Intellectual Disability-Hypsarrhythmia Syndrome 59
Epileptic Encephalopathy, Early Infantile, 1 41
X-Linked Infantile Spasms 53
Infantile Spasms 59
West's Syndrome 53
is 53

Characteristics:

Orphanet epidemiological data:

59
west syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
Orphanet 59 ORPHA3451
UMLS via Orphanet 74 C0037769
ICD10 via Orphanet 34 G40.4
KEGG 37 H01460

Summaries for West Syndrome

NIH Rare Diseases : 53 West syndromeis characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many disorders leading to brain injury, such as birth problems, cerebral anomalies, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found. The goals of treatment are to reduce or eliminate seizures, and include several medications, such as corticoids, avigabatrin, and antiepileptic drugs. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.

MalaCards based summary : West Syndrome, also known as x-linked infantile spasm syndrome, is related to infantile epileptic encephalopathy and epileptic encephalopathy, early infantile, 15, and has symptoms including seizures An important gene associated with West Syndrome is CDKL5 (Cyclin Dependent Kinase Like 5), and among its related pathways/superpathways are Glycosphingolipid biosynthesis - lacto and neolacto series and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Vigabatrin and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are myoclonus and developmental regression

NINDS : 54 An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.

Wikipedia : 76 Epileptic spasms, also known as infantile spasms, juvenile spasms, or West syndrome is an... more...

Related Diseases for West Syndrome

Diseases related to West Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 infantile epileptic encephalopathy 32.9 ARX CDKL5 LINC00581 PLCB1 SCN1A SCN2A
2 epileptic encephalopathy, early infantile, 15 31.6 ARX CDKL5 SCN1A SCN2A SCN8A SIK1
3 encephalopathy 31.0 CDKL5 MECP2 SCN1A SPTAN1 STXBP1
4 lennox-gastaut syndrome 30.8 POMC SCN1A ST3GAL3 STXBP1
5 focal epilepsy 30.0 CDKL5 GRIN2B SCN1A SCN2A SCN8A SPTAN1
6 status epilepticus 29.9 GRIN2B NTRK2 SCN1A
7 early myoclonic encephalopathy 29.9 ARX CDKL5 SCN1A SIK1
8 autism 29.9 ARX CDKL5 GRIN2B MECP2 SCN2A
9 epileptic encephalopathy, early infantile, 1 11.7
10 myoclonic epilepsy of infancy 11.0 SCN1A SCN8A
11 malignant migrating partial seizures of infancy 11.0 PLCB1 SCN1A SCN2A
12 myoclonic astatic epilepsy 10.9 GRIN2B SCN1A
13 epileptic encephalopathy, early infantile, 9 10.9 CDKL5 MECP2 SCN1A
14 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 10.9
15 epileptic encephalopathy, early infantile, 11 10.8
16 epileptic encephalopathy, early infantile, 12 10.8
17 epileptic encephalopathy, early infantile, 13 10.8
18 scn1a-related seizure disorders 10.8
19 generalized epilepsy with febrile seizures plus 10.8 SCN1A SCN2A SCN8A
20 autosomal dominant non-syndromic intellectual disability 10.8 GRIN2B SCN2A STXBP1
21 specific developmental disorder 10.8 ARX CDKL5 MECP2 POMC
22 christianson syndrome 10.8 CDKL5 FOXG1
23 neonatal period electroclinical syndrome 10.8 ARX CDKL5 SCN1A SCN2A STXBP1
24 benign epilepsy with centrotemporal spikes 10.7 PLCB1 SCN2A SPTAN1
25 epileptic encephalopathy, early infantile, 6 10.7 CDKL5 SCN1A SCN2A SCN8A STXBP1
26 pervasive developmental disorder 10.7 CDKL5 FOXG1 MECP2
27 epilepsy with generalized tonic-clonic seizures 10.7 SCN1A SCN2A
28 rett syndrome 10.7 CDKL5 FOXG1 MECP2 STXBP1
29 seizure disorder 10.7 CDKL5 MECP2 SCN1A SCN2A STXBP1
30 infancy electroclinical syndrome 10.7 ARX CDKL5 POMC SCN1A SCN2A STXBP1
31 undetermined early-onset epileptic encephalopathy 10.6 NTRK2 SCN8A STXBP1
32 disease of mental health 10.6 GRIN2B MECP2 POMC
33 gait apraxia 10.5 CDKL5 MECP2
34 epilepsy, idiopathic generalized 10.5 ABAT ARX CDKL5 POMC SCN1A SCN2A
35 mental retardation, x-linked, syndromic, hedera type 10.4 ARX SCN2A
36 trehalase deficiency 10.0 ARX CDKL5 FOXG1 GRIN2B MECP2 POMC
37 epilepsy 10.0
38 cerebritis 9.9
39 tuberous sclerosis 9.8
40 periventricular leukomalacia 9.7
41 leukomalacia 9.7
42 alacrima, achalasia, and mental retardation syndrome 9.7
43 vitamin b12 deficiency 9.7
44 porencephaly 9.7
45 down syndrome 9.6
46 tuberous sclerosis 1 9.6
47 pyruvate dehydrogenase e1-alpha deficiency 9.6
48 aging 9.6
49 epileptic encephalopathy, early infantile, 7 9.6
50 lissencephaly 9.6

Graphical network of the top 20 diseases related to West Syndrome:



Diseases related to West Syndrome

Symptoms & Phenotypes for West Syndrome

Human phenotypes related to West Syndrome:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
2 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
3 hypsarrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002521
4 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
5 abnormality of skin morphology 59 32 frequent (33%) Frequent (79-30%) HP:0011121
6 abnormality of the nervous system 59 Frequent (79-30%)

UMLS symptoms related to West Syndrome:


seizures

MGI Mouse Phenotypes related to West Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CDKL5 FOXG1 GRIN2B MECP2 NTRK2 PIGA
2 growth/size/body region MP:0005378 9.93 MECP2 NTRK2 PIGA PLCB1 POMC SCN1A
3 mortality/aging MP:0010768 9.77 ARX FOXG1 GRIN2B MECP2 NTRK2 PIGA
4 nervous system MP:0003631 9.47 ARX CDKL5 FOXG1 GRIN2B MECP2 NTRK2

Drugs & Therapeutics for West Syndrome

Drugs for West Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vigabatrin Approved Phase 4,Phase 3,Not Applicable 68506-86-5, 60643-86-9 5665
2 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 PK 11195 Phase 4 85532-75-8
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
5 GABA Agents Phase 4,Phase 3,Phase 2,Not Applicable
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
8
Cosyntropin Approved Phase 3 16960-16-0 16129617
9
Ethanol Approved Phase 3 64-17-5 702
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
11
Pyridoxal Approved, Nutraceutical Phase 3,Phase 2 66-72-8 1050
12
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3,Phase 2 65-23-6 1054
13 Strawberry Approved, Nutraceutical Phase 3
14 Antiemetics Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Antineoplastic Agents, Hormonal Phase 3
17 Autonomic Agents Phase 3
18 Gastrointestinal Agents Phase 3
19 glucocorticoids Phase 3
20 Hormone Antagonists Phase 3,Phase 2,Not Applicable
21 Hormones Phase 3,Phase 2,Not Applicable
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
23 Methylprednisolone acetate Phase 3
24 Methylprednisolone Hemisuccinate Phase 3
25 Micronutrients Phase 3,Phase 2
26 Neuroprotective Agents Phase 3
27 Peripheral Nervous System Agents Phase 3,Phase 2
28 Prednisolone acetate Phase 3
29 Prednisolone hemisuccinate Phase 3
30 Prednisolone phosphate Phase 3
31 Protective Agents Phase 3
32 Trace Elements Phase 3,Phase 2
33 Vitamin B 6 Phase 3,Phase 2
34 Vitamin B Complex Phase 3,Phase 2
35 Vitamins Phase 3,Phase 2
36 Calcium, Dietary Phase 2, Phase 3
37 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
38 Folate Nutraceutical Phase 3,Phase 2
39 Vitamin B9 Nutraceutical Phase 3,Phase 2
40 Soy Bean Nutraceutical Phase 2, Phase 3
41
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
42
Nitrazepam Approved Phase 2 146-22-5 4506
43
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
44 Adrenocorticotropic Hormone Phase 2,Not Applicable
45 beta-endorphin Phase 2,Not Applicable
46 Melanocyte-Stimulating Hormones Phase 2,Not Applicable
47 Anesthetics Phase 2
48 Central Nervous System Depressants Phase 2
49 Pregnanolone Phase 2 128-20-1
50 Analgesics Phase 2

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Evaluation of Neuroinflammation in Children With Infantile Spasms Completed NCT02092883 Phase 4 ACTH
2 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
3 Addition of Pyridoxine to Prednisolone in Infantile Spasms Unknown status NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
4 Use of the Modified Atkins Diet in Infantile Spasms Completed NCT01006811 Phase 2, Phase 3
5 Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Completed NCT01575639 Phase 3 Oral prednisolone
6 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
7 A Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms Recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
8 A Novel Approach to Infantile Spasms Recruiting NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
9 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Recruiting NCT02953548 Phase 3 GWP42003-P
10 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Enrolling by invitation NCT02954887 Phase 3 GWP42003-P
11 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
12 A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
13 Phase II Randomized Study of Early Surgery Vs Multiple Sequential Antiepileptic Drug Therapy for Infantile Spasms Refractory to Standard Treatment Completed NCT00004758 Phase 2 carbamazepine;corticotropin;nitrazepam;pyridoxine;valproic acid
14 A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS) Recruiting NCT02829827 Phase 2 Radiprodil
15 A Clinical Study to Evaluate the Potential Role of ACTH Gel in Patients With Scleritis Not yet recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
16 Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
17 Open-label Extension to Protocol 1042-0500 Terminated NCT00442104 Phase 2 Ganaxolone
18 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
19 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964 Not Applicable adrenocorticotropin hormone
20 Epilepsy Phenome/Genome Project Unknown status NCT00552045
21 Molecular Genetics in Infantile Spasms Completed NCT02885389
22 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy Completed NCT02220114 Not Applicable Vigabatrin: Vigabatrin new ST formulation then Sabril®
23 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
24 Sabril Patient Registry Completed NCT01073579 Sabril®
25 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
26 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
27 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
28 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
29 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Active, not recruiting NCT01767779

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for West Syndrome

Genetic tests related to West Syndrome:

# Genetic test Affiliating Genes
1 West Syndrome 29

Anatomical Context for West Syndrome

MalaCards organs/tissues related to West Syndrome:

41
Brain, Testes, Skin, Temporal Lobe, Heart, Eye, Cortex

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 397)
# Title Authors Year
1
West Syndrome: A Review and Guide for Paediatricians. ( 29086890 )
2018
2
Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study. ( 29315514 )
2018
3
Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. ( 29929112 )
2018
4
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
5
Review of West Syndrome: Concerns on Optimum Dose of Adrenocorticotrophic Hormone. ( 29556856 )
2018
6
Novel West syndrome candidate genes in a Chinese cohort. ( 29667327 )
2018
7
Vigabatrin and high-dose prednisolone therapy for patients with West syndrome. ( 29966811 )
2018
8
Early Seizure Freedom Is a Prognostic Factor for Survival in Patients with West Syndrome. ( 29783274 )
2018
9
Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome. ( 29905153 )
2018
10
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. ( 29791932 )
2018
11
Metabolic etiologies in West syndrome. ( 29881795 )
2018
12
Serial Analysis of Multiple Serum Cytokine Responses to Adrenocorticotropic Hormone Therapy in Patients With West Syndrome. ( 29724126 )
2018
13
Spasm, Infantile (West Syndrome) ( 28846304 )
2017
14
Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. ( 28654857 )
2017
15
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. ( 28386848 )
2017
16
Randomized, Single-Blind, Parallel Clinical Trial on Efficacy of Oral Prednisolone Versus Intramuscular Corticotropin: A 12-Month Assessment of Spasm Control in West Syndrome. ( 28927673 )
2017
17
Unusual Cause of West Syndrome. ( 29204211 )
2017
18
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state. ( 28780406 )
2017
19
CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY. ( 29227268 )
2017
20
DMD and West syndrome. ( 28802771 )
2017
21
Complex observation of scalp fast (40-150 Hz) oscillations in West syndrome and related disorders with structural brain pathology. ( 29588955 )
2017
22
West syndrome in three patients with brain injury and a benign course. ( 28794986 )
2017
23
Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience. ( 29362620 )
2017
24
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. ( 28864462 )
2017
25
Evaluation of ten prognostic factors affecting the outcome of West syndrome. ( 26850102 )
2016
26
Fast (40-150Hz) oscillations are associated with positive slow waves in the ictal EEGs of epileptic spasms in West syndrome. ( 27259671 )
2016
27
Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome. ( 27582501 )
2016
28
Oral Prednisolone Versus Intramuscular Corticotropin in West Syndrome. ( 26857521 )
2016
29
Intravenous immunoglobulin therapy is rarely effective as the initial treatment in West syndrome: A retrospective study of 70 patients. ( 27538618 )
2016
30
ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). ( 26810914 )
2016
31
Quinidine therapy for West syndrome with KCNTI mutation: A case report. ( 27578169 )
2016
32
White Matter Abnormality Correlates with Developmental and Seizure Outcomes in West Syndrome of Unknown Etiology. ( 26585267 )
2016
33
WDR45 mutations in three male patients with West syndrome. ( 27030146 )
2016
34
Wolf-Hirschhorn (4p-) syndrome with West syndrome. ( 27504263 )
2016
35
ACTH therapy for West syndrome with severe hemophilia A. ( 27896066 )
2016
36
Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients. ( 27082650 )
2016
37
De novo GABRA1 mutations in Ohtahara and West syndromes. ( 26918889 )
2016
38
LAMA2-related congenital muscular dystrophy complicated by West syndrome. ( 25500573 )
2015
39
West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation. ( 25878738 )
2015
40
Quantitative magnetic resonance imaging evidence forA altered structural remodeling of the temporal lobe in West syndrome. ( 25802930 )
2015
41
Occurrence of bilaterally independent epileptic spasms after a corpus callosotomy in West syndrome. ( 25998967 )
2015
42
Relationship between initial electroencephalographic characteristics and seizure outcomes in children with non-lesional West syndrome. ( 25616455 )
2015
43
Investigations in West Syndrome: Which, When and Why. ( 26933581 )
2015
44
Predictive factors for relapse of epileptic spasms after adrenocorticotropic hormone therapy in West syndrome. ( 26547521 )
2015
45
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. ( 26486472 )
2015
46
Heart rate variability in infants with West syndrome. ( 25891921 )
2015
47
De novo R853Q mutation of SCN2A gene and West syndrome. ( 25772804 )
2015
48
Severe early onset ethylmalonic encephalopathy with West syndrome. ( 26194623 )
2015
49
The Clinical Characteristics and Treatment Response in Children with West Syndrome in a Developing Country: A Retrospective Case Record Analysis. ( 25713006 )
2015
50
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. ( 25877686 )
2015

Variations for West Syndrome

Copy number variations for West Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246801 9 125800000 132500000 Copy number SPTAN1 West syndrome
2 246805 9 125800000 132500000 Microdeletion STXBP1 West syndrome
3 247706 9 130689850 130689869 Microdeletion SPTAN1 West syndrome
4 261365 X 18331857 18460326 Deletion CDKL5 West syndrome

Expression for West Syndrome

Search GEO for disease gene expression data for West Syndrome.

Pathways for West Syndrome

Pathways related to West Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Glycosphingolipid biosynthesis - lacto and neolacto series hsa00601

Pathways related to West Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 GRIN2B NTRK2 PLCB1 SCN1A SCN2A SCN8A
2 11.76 GRIN2B MECP2 NTRK2 POMC SCN1A SCN2A
3
Show member pathways
11.65 SCN1A SCN2A SCN8A SPTAN1
4
Show member pathways
11.37 SCN1A SCN2A SCN8A
5 10.73 SCN1A SCN2A SCN8A SPTAN1

GO Terms for West Syndrome

Cellular components related to West Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.62 NTRK2 SCN1A SCN2A STXBP1
2 axon initial segment GO:0043194 9.26 SCN1A SCN8A
3 sodium channel complex GO:0034706 9.16 SCN1A SCN2A
4 node of Ranvier GO:0033268 9.13 SCN1A SCN2A SCN8A
5 voltage-gated sodium channel complex GO:0001518 8.8 SCN1A SCN2A SCN8A

Biological processes related to West Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.69 SCN1A SCN2A SCN8A
2 brain development GO:0007420 9.67 FOXG1 GRIN2B MECP2 PLCB1
3 neuron migration GO:0001764 9.65 ARX CDKL5 NTRK2
4 sodium ion transmembrane transport GO:0035725 9.5 SCN1A SCN2A SCN8A
5 preassembly of GPI anchor in ER membrane GO:0016254 9.49 PIGA PIGW
6 central nervous system neuron development GO:0021954 9.46 FOXG1 NTRK2
7 glutamate receptor signaling pathway GO:0007215 9.43 GRIN2B PLCB1
8 cerebral cortex development GO:0021987 9.43 FOXG1 NTRK2 PLCB1
9 neuromuscular process controlling posture GO:0050884 9.4 MECP2 SCN1A
10 long-term synaptic potentiation GO:0060291 9.33 GRIN2B MECP2 NTRK2
11 membrane depolarization during action potential GO:0086010 9.13 SCN1A SCN2A SCN8A
12 neuronal action potential GO:0019228 8.8 SCN1A SCN2A SCN8A

Molecular functions related to West Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.5 SCN1A SCN2A SCN8A
2 ion channel activity GO:0005216 9.46 GRIN2B SCN1A SCN2A SCN8A
3 cation channel activity GO:0005261 9.43 SCN1A SCN2A SCN8A
4 sodium channel activity GO:0005272 9.13 SCN1A SCN2A SCN8A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN1A SCN2A SCN8A

Sources for West Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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