IS
MCID: WST001
MIFTS: 61

West Syndrome (IS)

Categories: Endocrine diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for West Syndrome

MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 40 12 74 52 53 58 36 29 6 15 39 71
Infantile Spasms 74 53 58 29 54 6
X-Linked Infantile Spasm Syndrome 52 71
Infantile Spasm 52 71
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 52
Intellectual Disability-Hypsarrhythmia Syndrome 58
Epileptic Encephalopathy, Early Infantile, 1 40
Infantile Spasms Syndrome 12
X-Linked Infantile Spasms 52
Spasms, Infantile 43
West's Syndrome 52
is 52

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
KEGG 36 H01460
MeSH 43 D013036
NCIt 49 C84788
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 72 C0037769
Orphanet 58 ORPHA3451
UMLS 71 C0037769 C2931919 C3887898

Summaries for West Syndrome

NIH Rare Diseases : 52 West syndrome is 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 infantile spasms, is related to epileptic encephalopathy, early infantile, 1 and lennox-gastaut syndrome, and has symptoms including seizures An important gene associated with West Syndrome is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Glycosphingolipid biosynthesis - lacto and neolacto series and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and temporal lobe, and related phenotypes are developmental regression and myoclonus

Disease Ontology : 12 An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.

NINDS : 53 An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called West Syndrome.  These are more commonly called infantile spasms (IS) since they are seen most often in the first year of life.  West Syndrome/IS is characterized by epileptic spasms, developmental problems, and a specific brain wave pattern on electroencephalography (EEG) testing called hypsarrhythmia.  The onset is usually in the first year of life, typically between 4-8 months.  The seizures often look like a sudden bending forward of the body with stiffening of the arms and legs lasting for 1-2 seconds; some children arch their backs as they extend their arms and legs.  Spasms tend to occur upon awakening and often occur in multiple clusters and hundreds of seizures per day.  Most children, but not all, will have EEG readings of hypsarrhythmia.  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 IS, making it important to identify the underlying cause.  In some children, no cause can be found.

KEGG : 36 West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia), and (c) intellectual or neurodevelopmental disabilities. Most cases present at peak age of onset between 3 and 7 months, with 90% of patients presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes central nervous system malformations, intrauterine insults, neurocutaneous syndromes such as tuberous sclerosis complex (TSC), metabolic disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin.

Wikipedia : 74 Epileptic spasms, is an uncommon-to-rare epileptic disorder in infants, children and adults. It is named... 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 510)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 34.3 ST3GAL3 PLCB1 ARX
2 lennox-gastaut syndrome 33.6 TSC2 STXBP1 ST3GAL3 SCN2A GRIN2B CDKL5
3 early infantile epileptic encephalopathy 33.5 TSC2 STXBP1 ST3GAL3 SPTAN1 SIK1 SCN2A
4 epileptic encephalopathy, early infantile, 13 32.7 SCN2A CDKL5
5 encephalopathy 31.8 STXBP1 SPTAN1 CDKL5 ARX
6 visual epilepsy 31.5 WDR45 STXBP1 SPTAN1 SCN2A PTEN CDKL5
7 epilepsy 31.2 TSC2 STXBP1 ST3GAL3 SPTAN1 SCN2A PLCB1
8 alacrima, achalasia, and mental retardation syndrome 31.2 STXBP1 GRIN2B GRIA3 ARX
9 early myoclonic encephalopathy 31.1 STXBP1 SIK1 SCN2A CDKL5 ARX
10 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.1 TSC2 PTEN
11 focal epilepsy 31.1 TSC2 SPTAN1 SCN2A GRIN2B CDKL5
12 ohtahara syndrome 31.0 STXBP1 SCN2A ARX
13 generalized epilepsy with febrile seizures plus 30.8 STXBP1 SCN2A CDKL5 ARX
14 epileptic encephalopathy, early infantile, 6 30.8 TSC2 STXBP1 SCN2A PLCB1 GRIN2B CDKL5
15 landau-kleffner syndrome 30.8 STXBP1 SCN2A GRIN2B
16 status epilepticus 30.7 NTRK2 GRIN2B GRIA3
17 electroclinical syndrome 30.7 STXBP1 SCN2A CDKL5 ARX
18 epilepsy, focal, with speech disorder and with or without mental retardation 30.7 SPTAN1 GRIN2B
19 autism 30.6 TSC2 STXBP1 SCN2A PTEN NTRK2 GRIN2B
20 epilepsy, myoclonic juvenile 30.5 STXBP1 SCN2A CDKL5
21 bruxism 30.4 WDR45 STXBP1 CDKL5
22 aicardi syndrome 30.3 CDKL5 ARX
23 epileptic encephalopathy, early infantile, 4 29.9 STXBP1 CDKL5
24 infantile spasms broad thumbs 12.6
25 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.3
26 cryptogenic late-onset epileptic spasms 11.6
27 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.6
28 pachygyria 11.5
29 mental retardation, x-linked, with or without seizures, arx-related 11.5
30 partington x-linked mental retardation syndrome 11.5
31 chromosome 15q11-q13 duplication syndrome 11.5
32 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 11.5
33 sandifer syndrome 11.5
34 neurodegeneration with brain iron accumulation 5 11.5
35 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 11.2
36 epileptic encephalopathy, early infantile, 11 11.1
37 epileptic encephalopathy, early infantile, 12 11.1
38 scn1a-related seizure disorders 11.1
39 aicardi-goutieres syndrome 1 11.1
40 corpus callosum, agenesis of, with abnormal genitalia 11.1
41 lissencephaly, x-linked, 2 11.1
42 band heterotopia 11.1
43 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.1
44 scn8a-related epilepsy with encephalopathy 11.1
45 fukuyama type muscular dystrophy 11.1
46 x-linked lissencephaly with abnormal genitalia 11.1
47 slc35a2-congenital disorder of glycosylation 11.1
48 infancy electroclinical syndrome 10.8 STXBP1 SPTAN1 SCN2A CDKL5 ARX
49 neonatal period electroclinical syndrome 10.8 STXBP1 SCN2A CDKL5 ARX
50 benign epilepsy with centrotemporal spikes 10.8 STXBP1 SPTAN1 SCN2A PLCB1 CDKL5

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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
2 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
3 infantile spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0012469
4 hypsarrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002521
5 abnormality of skin morphology 58 31 frequent (33%) Frequent (79-30%) HP:0011121
6 abnormality of the nervous system 58 Frequent (79-30%)

UMLS symptoms related to West Syndrome:


seizures

MGI Mouse Phenotypes related to West Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARX CDKL5 GRIA3 GRIN2B NTRK2 PIGA
2 nervous system MP:0003631 9.44 ARX CDKL5 GRIA3 GRIN2B NTRK2 PIGA

Drugs & Therapeutics for West Syndrome

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4
2 Hormone Antagonists Phase 4
3 Adrenocorticotropic Hormone Phase 4
4 Melanocyte-Stimulating Hormones Phase 4
5 beta-Endorphin Phase 4
6
Levetiracetam Approved Phase 2, Phase 3 102767-28-2 441341
7
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
8
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
9
Ethosuximide Approved Phase 3 77-67-8 3291
10
Cosyntropin Approved Phase 3 16960-16-0 16129617
11 Strawberry Approved Phase 3
12
Ethanol Approved Phase 3 64-17-5 702
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
15 Micronutrients Phase 3
16 Trace Elements Phase 3
17 Vitamins Phase 3
18 Vitamin B 6 Phase 3
19 Vitamin B Complex Phase 3
20 Nutrients Phase 3
21 Folate Phase 3
22 Vitamin B9 Phase 3
23 Soy Bean Phase 2, Phase 3
24 Calcium, Dietary Phase 3
25 Sodium Channel Blockers Phase 3
26 Psychotropic Drugs Phase 3
27 Diuretics, Potassium Sparing Phase 3
28 Antipsychotic Agents Phase 3
29 calcium channel blockers Phase 3
30 Pharmaceutical Solutions Phase 3
31 Epidiolex Phase 3
32
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
33
Calcium Nutraceutical Phase 3 7440-70-2 271
34
Phenytoin Approved, Vet_approved Phase 2 57-41-0 1775
35
Nitrazepam Approved Phase 2 146-22-5 4506
36
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
37 Hypnotics and Sedatives Phase 2
38 Anti-Anxiety Agents Phase 2
39 Analgesics, Non-Narcotic Phase 2
40 GABA Modulators Phase 2
41 Analgesics Phase 2
42 Endorphins Phase 2
43 Serotonin Uptake Inhibitors Phase 2
44
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
45
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
46
Sodium citrate Approved, Investigational 68-04-2
47
Lithium carbonate Approved 554-13-2
48
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
49 Fluorodeoxyglucose F18
50 Radiopharmaceuticals

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Neuroinflammation in Children With Infantile Spasms Measured With 11C-PK11195 Positron Emission Tomography: Response to ACTH Completed NCT02092883 Phase 4 ACTH
2 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
3 ACTHAR Therapy for Central Nervous System Sarcoidosis Recruiting NCT02920710 Phase 4 Repository Corticotropin Injection
4 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
5 Addition of Pyridoxine to Prednisolone in the Treatment of Infantile Spasms: A Randomized Controlled Trial Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
6 Efficacy and Tolerability of the Modified Atkins Diet in Patients With Infantile Spasms: a Pilot Study. Completed NCT01006811 Phase 2, Phase 3
7 Randomized Trial of High Dose (4mg/kg) Versus Usual Dose (2mg/kg) Oral Prednisolone in the Treatment of Infantile Spasms. Completed NCT01575639 Phase 3 Oral prednisolone
8 Intravenous Methylprednisolone Versus High Dose Oral Prednisolone for the Treatment of Infantile Spasms: a Randomized Open-labelled Trial Recruiting NCT03876444 Phase 2, Phase 3 Intravenous Methylprednisolone;Oral Pednisolone
9 Evaluation of the Modified Atkins Diet in Children With Epileptic Spasms Refractory to Hormonal Therapy: A Randomized Controlled Trial Recruiting NCT03807141 Phase 2, Phase 3
10 Modified Atkins Diet Versus Levetiracetam for Refractory Epilepsy in Children: A Randomized Open-Label Study Recruiting NCT04172311 Phase 2, Phase 3 Levetiracetam
11 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution as Adjunctive Therapy With Vigabatrin as Initial Therapy in Patients With Infantile Spasms Active, not recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
12 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Active, not recruiting NCT02954887 Phase 3 GWP42003-P
13 A Prospective, Case-control Evaluation of Ketogenic Dietary Therapy for New-onset Childhood Absence Epilepsy Not yet recruiting NCT04274179 Phase 3 Absence epilepsy medications
14 A Novel Approach to Infantile Spasms: Combined Cosyntropin Injectable Suspension, 1 mg/mL and Vigabatrin Induction Therapy Suspended NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
15 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Terminated NCT02953548 Phase 3 GWP42003-P
16 Evaluation of the Modified Atkins Diet in Children With Infantile Spasms Refractory to Hormonal Therapy: a Randomized Controlled Trial Withdrawn NCT01549288 Phase 2, Phase 3
17 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
18 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
19 A Double-blind, Placebo-controlled, Dose-ranging Clinical Study to Evaluate the Safety, Tolerability, and Antiepileptic Activity of Ganaxolone in Treatment of Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
20 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
21 A Phase 2 Study to Assess the Safety, Tolerability, Exploratory Efficacy, and Pharmacokinetics of Orally Administered JBPOS0101 for Refractory Infantile Spasms Patients Recruiting NCT03976076 Phase 2 JBPOS0101
22 An Open Label, Multi-centered, Randomized Phase 2 Study to Evaluate the Safety, Tolerability and Bioactivity of Subcutaneous ACTH GeL in PAtients With Scleritis: The ATLAS Study Recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
23 Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex (PREVeNT Trial) A Randomized, Double-blind, Placebo-controlled Seizure Prevention Clinical Trial for Infants With TSC Active, not recruiting NCT02849457 Phase 2 Vigabatrin;Placebo
24 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 Active, not recruiting NCT03650452 Phase 2 TAK-935;Placebo
25 A Phase II Study of Fenfluramine for Treatment of Refractory Infantile Spasms Not yet recruiting NCT04289467 Phase 2 Fenfluramine
26 An Open-label Adaptive Study for the Assessment of Safety, Tolerability, Pharmacokinetics, and Efficacy of Multiple Doses of Radiprodil in Subjects With Drug-resistant Infantile Spasms Terminated NCT02829827 Phase 2 Radiprodil
27 An Open-label Clinical Study to Evaluate the Safety and Antiepileptic Activity of Ganaxolone in Treatment of Patients Diagnosed With Infantile Spasms. Terminated NCT00442104 Phase 2 Ganaxolone
28 A Phase 2 Study to Assess the Efficacy and Safety of Cannabidiol Oral Solution for the Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
29 Cannabidiol in Children With Refractory Epileptic Encephalopathy: A Phase 1 Open Label Dose Escalation Study (CARE-E) Active, not recruiting NCT03024827 Phase 1 CanniMed® 1:20
30 Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome Completed NCT02885389
31 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
32 Sabril Patient Registry Completed NCT01073579 Sabril®
33 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy. Observational, Descriptive, Open-label, Multi-centric, Non-randomized Study Completed NCT02220114 Vigabatrin: Vigabatrin new ST formulation then Sabril®
34 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
35 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
36 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Completed NCT01767779
37 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
38 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
39 Efficacy of Vigabatrin With High Dose Prednisolone Combination Therapy Versus Vigabatrin Alone for Infantile Spasm: a Randomized Trial Recruiting NCT04302116 Combination therapy with vigabatrin and prednisolone;Vigabatrin Tablets
40 Decreasing Parental Stress and Costs While Improving Overall Satisfaction of Caregivers of Infants With Infantile Spasms on ACTH Therapy Utilizing Innovative Telemedicine Technology: A Randomized Study Recruiting NCT04086992
41 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
42 Ocular Sarcoidosis Open Label Trial of ACTHAR Gel Recruiting NCT02725177 Repository Corticotropin Injection;Repository Corticotropin Injection -Treatment Extension
43 Early Treatment of Infants at High Risk of Developing West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Active, not recruiting NCT01367964 adrenocorticotropin hormone
44 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
45 Trial of Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171

Search NIH Clinical Center for West Syndrome

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


topiramate

Cochrane evidence based reviews: spasms, infantile

Genetic Tests for West Syndrome

Genetic tests related to West Syndrome:

# Genetic test Affiliating Genes
1 West Syndrome 29
2 Infantile Spasms 29

Anatomical Context for West Syndrome

MalaCards organs/tissues related to West Syndrome:

40
Brain, Testes, Temporal Lobe, Eye, Cortex, Skin, Pituitary

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 3047)
# Title Authors PMID Year
1
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 6 54 61
19793311 2009
2
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 54 6 61
17993579 2008
3
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. 54 61 6
16813600 2006
4
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 61 6 54
15689447 2005
5
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 61 6 54
15492925 2004
6
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. 61 6 54
15499549 2004
7
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. 61 6
30089820 2018
8
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 6 61
26486472 2016
9
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 6 61
24272827 2014
10
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 6 61
22656320 2013
11
West syndrome caused by ST3Gal-III deficiency. 61 6
23252400 2013
12
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. 6 61
22258530 2012
13
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. 6 61
22429196 2012
14
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 6 61
20493457 2010
15
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 6 61
16611748 2006
16
GRIN2B-Related Neurodevelopmental Disorder 6
29851452 2018
17
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 6
19241098 2009
18
A CDKL5 mutated child with precocious puberty. 6
19396824 2009
19
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 6
18809835 2008
20
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 54 61
20397747 2010
21
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 61 54
19780792 2010
22
Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. 54 61
19369101 2010
23
The tuberous sclerosis complex. 61 54
20146692 2010
24
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. 54 61
19740913 2009
25
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 61 54
19734009 2009
26
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 54 61
19471977 2009
27
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 61 54
19439424 2009
28
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. 54 61
19332694 2009
29
Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG. 54 61
18801034 2009
30
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 61 54
19253388 2009
31
Current trends in the treatment of infantile spasms. 61 54
19557123 2009
32
[ARX mutations and mental retardation of unknown etiology: three new cases in Spain]. 54 61
19085879 2008
33
Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients. 61 54
18703161 2008
34
Key clinical features to identify girls with CDKL5 mutations. 61 54
18790821 2008
35
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. 54 61
18701457 2008
36
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy. 61 54
18468866 2008
37
[ARX--one gene--many phenotypes]. 61 54
18975239 2008
38
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. 54 61
18032744 2008
39
Management of epilepsy in tuberous sclerosis complex. 61 54
18345974 2008
40
Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms. 61 54
18461507 2007
41
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 54 61
17668384 2007
42
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 54 61
17664401 2007
43
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. 61 54
17641262 2007
44
Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. 61 54
17049193 2007
45
Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasia. 54 61
17283320 2007
46
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. 61 54
17092467 2006
47
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. 54 61
16935860 2006
48
A new paradigm for West syndrome based on molecular and cell biology. 61 54
16806828 2006
49
Genetic malformations of cortical development. 61 54
16724181 2006
50
Herpes simplex virus central nervous system relapse during treatment of infantile spasms with corticotropin. 54 61
16606680 2006

Variations for West Syndrome

ClinVar genetic disease variations for West Syndrome:

6 (show top 50) (show all 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)SNV Pathogenic 625211 X:122613916-122613916 X:123480065-123480065
2 RALGAPA1 NM_014990.3(RALGAPA1):c.1126C>T (p.Arg376Ter)SNV Pathogenic 691794 14:36217916-36217916 14:35748710-35748710
3 RALGAPA1 NM_014990.3(RALGAPA1):c.4992del (p.Phe1664fs)deletion Pathogenic 691795 14:36096643-36096643 14:35627437-35627437
4 RALGAPA1 NM_014990.3(RALGAPA1):c.610G>T (p.Glu204Ter)SNV Pathogenic 691796 14:36226052-36226052 14:35756846-35756846
5 RALGAPA1 NM_014990.3(RALGAPA1):c.5732C>G (p.Ser1911Ter)SNV Pathogenic 691797 14:36041884-36041884 14:35572678-35572678
6 RALGAPA1 NM_014990.3(RALGAPA1):c.3227A>G (p.Asn1076Ser)SNV Pathogenic 691798 14:36143795-36143795 14:35674589-35674589
7 TSC2 NM_000548.5(TSC2):c.4662+1G>ASNV Pathogenic 50031 rs45514095 16:2135324-2135324 16:2085323-2085323
8 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter)SNV Pathogenic 198157 rs794727792 9:130423419-130423419 9:127661140-127661140
9 PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys)SNV Pathogenic 233777 rs876660634 10:89685308-89685308 10:87925551-87925551
10 46;X;t(X;8)(p22;p21)dnTranslocation Pathogenic 267871
11 CDKL5 NM_001323289.2(CDKL5):c.99+1G>TSNV Likely pathogenic 156097 rs267608421 X:18528975-18528975 X:18510855-18510855
12 ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)SNV Likely pathogenic 598969 rs1569508922 X:110924496-110924496 X:111681268-111681268
13 KDM2B NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)SNV Likely pathogenic 242896 rs782304760 12:121880194-121880194 12:121442391-121442391
14 MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)SNV Likely pathogenic 242890 rs749203329 19:6213798-6213798 19:6213787-6213787
15 CDKL5 NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter)SNV Likely pathogenic 547185 rs267608618 X:18622282-18622282 X:18604162-18604162
16 CDKL5 NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)deletion Likely pathogenic 547187 rs1555952078 X:18622636-18622636 X:18604516-18604516
17 CDKL5 NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs)duplication Likely pathogenic 547188 rs1555954752 X:18643344-18643345 X:18625224-18625225
18 SCN8A NM_001330260.2(SCN8A):c.4922T>G (p.Leu1641Arg)SNV Likely pathogenic 812774 12:52200192-52200192 12:51806408-51806408
19 SCN2A NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)SNV Likely pathogenic 834051 2:166165941-166165941 2:165309431-165309431
20 POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln)SNV Conflicting interpretations of pathogenicity 458712 rs140079523 15:89862193-89862193 15:89318962-89318962
21 DYNC1H1 NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)SNV Uncertain significance 523440 rs1555411304 14:102498655-102498655 14:102032318-102032318
22 PIK3AP1 NM_152309.3(PIK3AP1):c.554G>A (p.Arg185His)SNV Uncertain significance 541751 rs1364487885 10:98416568-98416568 10:96656811-96656811
23 PIK3AP1 NM_152309.3(PIK3AP1):c.1670-3T>CSNV Uncertain significance 541752 rs567983975 10:98383297-98383297 10:96623540-96623540
24 PIK3AP1 NM_152309.3(PIK3AP1):c.917A>G (p.Lys306Arg)SNV Uncertain significance 541750 rs539294987 10:98411076-98411076 10:96651319-96651319
25 PIK3AP1 NM_152309.3(PIK3AP1):c.2015-6T>ASNV Uncertain significance 541748 rs775761112 10:98369630-98369630 10:96609873-96609873
26 PIK3AP1 NM_152309.3(PIK3AP1):c.2108T>C (p.Ile703Thr)SNV Uncertain significance 541747 rs1554952901 10:98369531-98369531 10:96609774-96609774
27 PIK3AP1 NM_152309.3(PIK3AP1):c.854A>G (p.Gln285Arg)SNV Uncertain significance 541744 rs1440323214 10:98411267-98411267 10:96651510-96651510
28 PIK3AP1 NM_152309.3(PIK3AP1):c.2273G>A (p.Arg758His)SNV Uncertain significance 541746 rs765634361 10:98362124-98362124 10:96602367-96602367
29 PIK3AP1 NM_152309.3(PIK3AP1):c.2294T>C (p.Val765Ala)SNV Uncertain significance 474926 rs1164907557 10:98362103-98362103 10:96602346-96602346
30 PIK3AP1 NM_152309.3(PIK3AP1):c.113G>T (p.Arg38Leu)SNV Uncertain significance 474913 rs770855063 10:98469641-98469641 10:96709884-96709884
31 PIK3AP1 NC_000010.10:g.(?_98399836)_(98405338_?)dupduplication Uncertain significance 474910 10:98399836-98405338 10:96640079-96645581
32 PIK3AP1 NM_152309.3(PIK3AP1):c.2084A>T (p.Glu695Val)SNV Uncertain significance 474920 rs1460674779 10:98369555-98369555 10:96609798-96609798
33 PIK3AP1 NM_152309.3(PIK3AP1):c.182T>A (p.Phe61Tyr)SNV Uncertain significance 661417 10:98469572-98469572 10:96709815-96709815
34 PIK3AP1 NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile)SNV Uncertain significance 642249 10:98363800-98363800 10:96604043-96604043
35 PIK3AP1 NM_152309.3(PIK3AP1):c.2065G>A (p.Val689Met)SNV Uncertain significance 655116 10:98369574-98369574 10:96609817-96609817
36 PIK3AP1 NM_152309.3(PIK3AP1):c.1998dup (p.Ser667fs)duplication Uncertain significance 642150 10:98376411-98376412 10:96616654-96616655
37 PIK3AP1 NM_152309.3(PIK3AP1):c.1555G>A (p.Asp519Asn)SNV Uncertain significance 653446 10:98386579-98386579 10:96626822-96626822
38 PIK3AP1 NM_152309.3(PIK3AP1):c.1544C>T (p.Thr515Met)SNV Uncertain significance 639225 10:98386590-98386590 10:96626833-96626833
39 PIK3AP1 NM_152309.3(PIK3AP1):c.887C>T (p.Thr296Ile)SNV Uncertain significance 646076 10:98411106-98411106 10:96651349-96651349
40 PIK3AP1 NM_152309.3(PIK3AP1):c.568G>A (p.Ala190Thr)SNV Uncertain significance 655567 10:98412599-98412599 10:96652842-96652842
41 PIK3AP1 NM_152309.3(PIK3AP1):c.280C>T (p.Pro94Ser)SNV Uncertain significance 664673 10:98469474-98469474 10:96709717-96709717
42 PIK3AP1 NM_152309.3(PIK3AP1):c.239A>C (p.His80Pro)SNV Uncertain significance 658752 10:98469515-98469515 10:96709758-96709758
43 PIK3AP1 NM_152309.3(PIK3AP1):c.13+3G>ASNV Uncertain significance 652145 10:98480136-98480136 10:96720379-96720379
44 CDKL5 NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp)SNV Uncertain significance 560635 rs1569213910 X:18598063-18598063 X:18579943-18579943
45 PIK3AP1 NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg)SNV Uncertain significance 578637 rs113976248 10:98363800-98363800 10:96604043-96604043
46 PIK3AP1 NM_152309.3(PIK3AP1):c.1433G>A (p.Arg478Gln)SNV Uncertain significance 574725 rs760805333 10:98388193-98388193 10:96628436-96628436
47 PIK3AP1 NM_152309.3(PIK3AP1):c.664A>T (p.Met222Leu)SNV Uncertain significance 576462 rs774215325 10:98412503-98412503 10:96652746-96652746
48 PIK3AP1 NM_152309.3(PIK3AP1):c.645G>A (p.Glu215=)SNV Uncertain significance 574572 rs752098964 10:98412522-98412522 10:96652765-96652765
49 PIK3AP1 NM_152309.3(PIK3AP1):c.508C>A (p.Pro170Thr)SNV Uncertain significance 582895 rs150666185 10:98416614-98416614 10:96656857-96656857
50 PIK3AP1 NM_152309.3(PIK3AP1):c.1234G>A (p.Gly412Arg)SNV Uncertain significance 576458 rs760007926 10:98405371-98405371 10:96645614-96645614

Copy number variations for West Syndrome from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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
12.14 SCN2A PLCB1 NTRK2 GRIN2B GRIA3
2 11.89 STXBP1 SCN2A NTRK2 GRIN2B GRIA3
3 11.59 TSC2 PTEN PLCB1
4
Show member pathways
11.54 PLCB1 GRIN2B GRIA3
5
Show member pathways
11.39 PLCB1 GRIN2B GRIA3
6 11.18 TSC2 NTRK2 GRIN2B GRIA3 CDKL5
7 10.73 GRIN2B GRIA3

GO Terms for West Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.8 TSC2 RALGAPA1 PLCB1 CDKL5
2 neuron migration GO:0001764 9.63 NTRK2 CDKL5 ARX
3 memory GO:0007613 9.5 SCN2A PTEN PLCB1
4 regulation of protein kinase B signaling GO:0051896 9.48 PTEN NTRK2
5 long-term synaptic depression GO:0060292 9.43 STXBP1 PTEN
6 cerebral cortex development GO:0021987 9.43 PLCB1 PHACTR1 NTRK2
7 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 TSC2 PTEN
8 insulin-like growth factor receptor signaling pathway GO:0048009 9.37 TSC2 PLCB1
9 long-term synaptic potentiation GO:0060291 9.33 PTEN NTRK2 GRIN2B
10 regulation of cell cycle GO:0051726 9.26 TSC2 PTEN PLCB1 CDKL5
11 glutamate receptor signaling pathway GO:0007215 8.8 PLCB1 GRIN2B GRIA3

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

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 8.62 GRIN2B GRIA3

Sources for West Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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