IS
MCID: WST001
MIFTS: 64

West Syndrome (IS)

Categories: Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for West Syndrome

MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 39 11 19 58 75 28 5 14 71 75 33
Infantile Spasms 52 75 28 53 5 33
X-Linked Infantile Spasm Syndrome 19 71
Infantile Spasms Syndrome 11 58
X-Linked Infantile Spasms 19 5
Infantile Spasm 19 71
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 19
Epileptic Encephalopathy, Early Infantile, 1 39
is -[infantile Spasm] 33
Spasms, Infantile 43
West's Syndrome 19
Salaam Spasm 33
Salaam Tic 33
is 19

Characteristics:


Inheritance:

Infantile Spasms Syndrome: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

Infantile Spasms Syndrome: 1-9/100000 (Europe, Europe, Worldwide, Finland, Iceland, Sweden, United States) 1-5/10000 (Singapore, Korea, Republic of) 58

Age Of Onset:

Infantile Spasms Syndrome: Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0050562
MeSH 43 D013036
NCIt 49 C84788
ICD10 via Orphanet 32 G40.4
UMLS via Orphanet 72 C0037769
Orphanet 58 ORPHA3451
ICD11 33 1023597213
UMLS 71 C0037769 C2931919 C3887898

Summaries for West Syndrome

NINDS: 52 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.

MalaCards based summary: West Syndrome, also known as infantile spasms, is related to developmental and epileptic encephalopathy 1 and lennox-gastaut syndrome, and has symptoms including seizures An important gene associated with West Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Glucose / Energy Metabolism and Angiopoietin-like protein 8 regulatory pathway. The drugs PK 11195 and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and temporal lobe, and related phenotypes are developmental regression and myoclonus

GARD: 19 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. 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. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.

Orphanet: 58 A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.

Disease Ontology: 11 An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.

Wikipedia: 75 Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. One of the... 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 677)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 1 33.3 WWOX TPTEP2-CSNK1E TBC1D24 STXBP1 SLC2A1 SCN1A
2 lennox-gastaut syndrome 32.7 TSC2 TBC1D24 STXBP1 SLC2A1 SCN2A SCN1A
3 developmental and epileptic encephalopathy 87 32.6 TSC2 STXBP1 CDKL5
4 early myoclonic encephalopathy 32.6 TUBA1A TBC1D24 STXBP1 SLC2A1 SCN2A SCN1A
5 partington syndrome 32.4 STXBP1 LOC109610631 CDKL5 ARX
6 non-syndromic x-linked intellectual disability arx-related 32.3 MAF ARX
7 developmental and epileptic encephalopathy 13 32.1 SCN2A SCN1A
8 epilepsy 31.9 WWOX TSC2 TBC1D24 STXBP1 SLC2A1 SCN2A
9 corpus callosum, agenesis of, with abnormal genitalia 31.8 TUBA1A ARX
10 encephalopathy 31.5 STXBP1 SCN1A PACS2 CDKL5
11 early infantile epileptic encephalopathy 31.5 WWOX TUBA1A TBC1D24 STXBP1 SLC2A1 SCN2A
12 microcephaly 31.4 WWOX TUBA1A TBC1D24 STXBP1 SLC2A1 SCN1A
13 autism 31.3 TSC2 STXBP1 SCN2A SCN1A PTEN MTHFR
14 autism spectrum disorder 31.3 TSC2 STXBP1 SCN2A SCN1A PTEN MTHFR
15 focal epilepsy 31.2 SCN2A SCN1A KCNQ2 CDKL5
16 developmental and epileptic encephalopathy 31.1 WWOX TSC2 TBC1D24 STXBP1 SLC2A1 SCN2A
17 hemimegalencephaly 31.0 SCN1A PTEN
18 dravet syndrome 31.0 TSC2 TBC1D24 STXBP1 SLC2A1 SCN2A SCN1A
19 benign neonatal seizures 31.0 TBC1D24 STXBP1 SCN2A SCN1A KCNQ2 CDKL5
20 epilepsy, idiopathic generalized 31.0 STXBP1 SLC2A1 SCN2A SCN1A KCNQ2 CDKL5
21 polymicrogyria, bilateral perisylvian, x-linked 31.0 TUBA1A TSC2 SCN2A
22 lissencephaly, x-linked, 2 30.9 TUBA1A LOC109610631 ARX
23 ohtahara syndrome 30.9 STXBP1 SCN2A SCN1A KCNQ2 CDKL5
24 chromosome 1p36 deletion syndrome 30.9 TBC1D24 STXBP1 SCN1A KCNQ2
25 developmental and epileptic encephalopathy 7 30.8 SCN2A SCN1A KCNQ2
26 glycine encephalopathy 30.8 STXBP1 KCNQ2 CDKL5
27 epilepsy with generalized tonic-clonic seizures 30.8 WWOX STXBP1 SCN2A SCN1A KCNQ2 CDKL5
28 landau-kleffner syndrome 30.7 STXBP1 SCN2A SCN1A KCNQ2 CDKL5
29 childhood absence epilepsy 30.7 TBC1D24 STXBP1 SLC2A1 SCN2A SCN1A KCNQ2
30 generalized epilepsy with febrile seizures plus 30.7 STXBP1 SCN2A SCN1A KCNQ2 CDKL5
31 aicardi syndrome 30.7 STXBP1 CDKL5 ARX
32 progressive myoclonus epilepsy 30.7 TBC1D24 STXBP1 SCN2A SCN1A KCNQ2
33 epilepsy, pyridoxine-dependent 30.7 STXBP1 SLC2A1 SCN2A SCN1A KCNQ2 CDKL5
34 developmental and epileptic encephalopathy 2 30.7 STXBP1 SCN2A SCN1A CDKL5 ARX
35 rett syndrome 30.7 STXBP1 SCN2A SCN1A PTEN DNM1 CDKL5
36 spasticity 30.6 STXBP1 SLC2A1 MTHFR ARX
37 periventricular nodular heterotopia 30.5 TUBA1A TSC2 SCN1A
38 intellectual developmental disorder, x-linked 29 30.5 LOC109610631 ARX
39 epilepsy, myoclonic juvenile 30.5 STXBP1 SLC2A1 SCN2A SCN1A KCNQ2 CDKL5
40 developmental and epileptic encephalopathy 14 30.4 TBC1D24 SCN2A SCN1A KCNQ2 CDKL5
41 benign familial neonatal epilepsy 30.4 STXBP1 SCN2A SCN1A KCNQ2 CDKL5
42 sturge-weber syndrome 30.3 TSC2 SCN1A CDKL5
43 corpus callosum, agenesis of 30.3 TUBA1A ARX
44 seizures, benign familial infantile, 3 30.3 SCN2A KCNQ2
45 epilepsy with myoclonic-atonic seizures 30.3 SLC2A1 SCN1A
46 alcohol-related neurodevelopmental disorder 30.2 STXBP1 CDKL5
47 hypomelanosis of ito 30.2 TUBA1A TSC2
48 infantile spasms broad thumbs 11.6
49 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 11.4
50 cryptogenic late-onset epileptic spasms 11.2

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

UMLS symptoms related to West Syndrome:


seizures

GenomeRNAi Phenotypes related to West Syndrome according to GeneCards Suite gene sharing:

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.68 RALGAPA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 SCN2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.68 TUBA1A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 RALGAPA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.68 RALGAPA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.68 TUBA1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.68 SCN2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.68 RALGAPA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.68 RALGAPA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 SCN2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.68 TUBA1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 RALGAPA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.68 SCN2A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.68 RALGAPA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.68 SCN2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.68 TUBA1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.68 SCN2A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.68 TUBA1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 SCN2A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.68 RALGAPA1 TUBA1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 SCN2A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.68 TUBA1A

MGI Mouse Phenotypes related to West Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.19 ARX CDKL5 CSNK1E DNM1 KCNQ2 MAF
2 growth/size/body region MP:0005378 10 ARX KCNQ2 MAF MTHFR PTEN RALGAPA1
3 no phenotypic analysis MP:0003012 9.92 CDKL5 CSNK1E DNM1 MTHFR SLC2A1 STXBP1
4 behavior/neurological MP:0005386 9.89 ARX CDKL5 CSNK1E DNM1 KCNQ2 MAF
5 mortality/aging MP:0010768 9.5 ARX DNM1 KCNQ2 MAF MTHFR PTEN

Drugs & Therapeutics for West Syndrome

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
PK 11195 Phase 4 85532-75-8 1345
2
Ethanol Approved Phase 3 64-17-5 702
3 Strawberry Approved Phase 3
4
Tetracosactide Approved Phase 3 16960-16-0 16133802 16129617
5
Cannabidiol Approved, Investigational Phase 3 13956-29-1 521372 644019
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
8 Calcium, Dietary Phase 2, Phase 3
9 Soy Bean Phase 2, Phase 3
10 Vitamins Phase 3
11 Folate Phase 3
12 Vitamin B9 Phase 3
13 Vitamin B6 Phase 3
14 Trace Elements Phase 3
15 Vitamin B Complex Phase 3
16 Vitamin B 6 Phase 3
17 Micronutrients Phase 3
18 Pharmaceutical Solutions Phase 3
19
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
20
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
21
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 2 458-24-2 3337
22
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
23
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
24
Nitrazepam Approved Phase 2 146-22-5 4506
25
Ganaxolone Approved, Investigational Phase 2 38398-32-2 22023730 6918305
26 Serotonin Uptake Inhibitors Phase 2
27 Melanocyte-Stimulating Hormones Phase 2
28 Adrenocorticotropic Hormone Phase 2
29
beta-Endorphin Phase 2
30 Sodium Channel Blockers Phase 2
31 Anti-Anxiety Agents Phase 2
32 Psychotropic Drugs Phase 2
33 Hypnotics and Sedatives Phase 2
34 Analgesics, Non-Narcotic Phase 2
35 Analgesics Phase 2
36 Diuretics, Potassium Sparing Phase 2
37 Neurosteroids Phase 2
38 GABA Modulators Phase 2
39
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
40
Lithium carbonate Approved 554-13-2
41
Sodium citrate Approved, Investigational 68-04-2 23431961
42
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
43 Endorphins
44 Radiopharmaceuticals
45 Fluorodeoxyglucose F18
46 Antidepressive Agents
47 Citrate

Interventional clinical trials:

(show all 39)
# 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 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
3 Intravenous Methylprednisolone Versus High Dose Oral Prednisolone for the Treatment of Infantile Spasms: a Randomized Open-labelled Trial Unknown status NCT03876444 Phase 2, Phase 3 Intravenous Methylprednisolone;Oral Pednisolone
4 Evaluation of the Modified Atkins Diet in Children With Epileptic Spasms Refractory to Hormonal Therapy: A Randomized Controlled Trial Unknown status NCT03807141 Phase 2, Phase 3
5 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
6 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 Completed NCT02954887 Phase 3 GWP42003-P
7 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 Completed NCT02953548 Phase 3 GWP42003-P
8 Efficacy and Tolerability of the Modified Atkins Diet in Patients With Infantile Spasms: a Pilot Study. Completed NCT01006811 Phase 2, Phase 3
9 Addition of Pyridoxine to Prednisolone in the Treatment of Infantile Spasms: A Randomized Controlled Trial Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
10 Comparison of Efficacy of Ketogenic Diet and ACTH Therapy Among Children With West Syndrome: A Pilot Randomized Control Trial Recruiting NCT05279118 Phase 2, Phase 3 ACTH
11 A Phase 3, Randomized, Open-Label Study to Evaluate the Efficacy and Safety of AMZ002, Compared to Vigabatrin, in the Treatment of Infantile Spasms Not yet recruiting NCT05128344 Phase 3 AMZ002 injectable solution, 0.5mg/mL;Vigabatrin, oral
12 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
13 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 Terminated NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
14 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
15 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
16 A Phase II Study of Fenfluramine for Treatment of Refractory Infantile Spasms Unknown status NCT04289467 Phase 2 Fenfluramine
17 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
18 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
19 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
20 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
21 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
22 A Phase 2 Study to Assess the Safety, Tolerability, Exploratory Efficacy, and Pharmacokinetics of Orally Administered JBPOS0101 for Refractory Infantile Spasms Patients Terminated NCT03976076 Phase 2 JBPOS0101
23 A Phase I Open-Label Pilot Study to Investigate the Feasibility, Safety, Tolerability and Efficacy of Daily Administration of Tricaprilin in Subjects With Infantile Spasms Recruiting NCT04727970 Phase 1 Tricaprilin
24 Early Treatment of Infants at High Risk of Developing West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964 adrenocorticotropin hormone
25 Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome Completed NCT02885389
26 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
27 Genetic Studies in Patients and Families With Infantile Spasms Completed NCT01723787
28 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®
29 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
30 Sabril Patient Registry Completed NCT01073579 Sabril®
31 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
32 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
33 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
34 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
35 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
36 The Effect of Spa and Massage on Babies on Colic Symptoms: A Randomised Controlled Trial Recruiting NCT05538936
37 Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents Not yet recruiting NCT05126914
38 A Phase 0 Non-interventional, Multi-center, Natural History Study in Pediatric Patients With Syntaxin Binding Protein 1 (STXBP1) Encephalopathy With Epilepsy Not yet recruiting NCT05462054
39 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 28
2 Infantile Spasms 28

Anatomical Context for West Syndrome

Organs/tissues related to West Syndrome:

MalaCards : Brain, Skin, Temporal Lobe, Occipital Lobe, Cortex, Eye, Caudate Nucleus

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 3675)
# Title Authors PMID Year
1
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 53 62 5
19439424 2009
2
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 53 62 5
17668384 2007
3
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 53 62 5
17664401 2007
4
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 53 62 5
12376946 2002
5
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 53 62 5
11889467 2002
6
The genetic landscape of infantile spasms. 62 5
24781210 2014
7
The genetic basis of DOORS syndrome: an exome-sequencing study. 62 5
24291220 2014
8
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 62 5
23246292 2013
9
Familial Ohtahara syndrome due to a novel ARX gene mutation. 62 5
21108397 2010
10
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 62 5
19738637 2010
11
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. 62 5
20148114 2010
12
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. 62 5
19606478 2009
13
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 62 5
19507262 2009
14
Expansion of the ARX spectrum. 62 5
18462864 2008
15
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 62 5
15726411 2005
16
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 62 5
15200506 2004
17
Polyalanine expansion of ARX associated with cryptogenic West syndrome. 62 5
12874418 2003
18
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. 62 5
12177367 2002
19
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. 62 5
10353782 1999
20
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. 62 5
10334471 1999
21
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. 62 5
9307258 1997
22
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 5
32313153 2020
23
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
24
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. 5
31691806 2019
25
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. 5
31257402 2019
26
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations. 5
31112829 2019
27
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. 5
30356099 2019
28
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. 5
30776697 2019
29
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. 5
30335140 2019
30
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients. 5
31780880 2019
31
Genetics of hearing loss in the Arab population of Northern Israel. 5
30139988 2018
32
[Clinical phenotypes of TBC1D24 gene related epilepsy]. 5
30180405 2018
33
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. 5
29656858 2018
34
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 5
29390993 2018
35
Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review. 5
30746283 2018
36
Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus. 5
30108545 2018
37
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 5
29100083 2017
38
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 5
28292732 2017
39
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 5
27848944 2017
40
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. 5
29152528 2017
41
Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua. 5
29416524 2017
42
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 5
28663785 2017
43
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 5
28428906 2017
44
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function. 5
27669036 2016
45
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. 5
27502353 2016
46
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 5
27281533 2016
47
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 5
26626314 2016
48
The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress. 5
26668325 2016
49
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. 5
26130693 2015
50
A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy. 5
25403906 2015

Variations for West Syndrome

ClinVar genetic disease variations for West Syndrome:

5 (show top 50) (show all 1794)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARX NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) INDEL Pathogenic
224076 rs869312662 GRCh37: X:25031105-25031110
GRCh38: X:25012988-25012993
2 TBC1D24 NC_000016.10:g.(?_2496129)_(2500978_?)del DEL Pathogenic
474299 GRCh37: 16:2546130-2550979
GRCh38: 16:2496129-2500978
3 TPTEP2-CSNK1E, CSNK1E NM_152221.3(CSNK1E):c.885+1G>A SNV Pathogenic
590290 rs1569077009 GRCh37: 22:38694790-38694790
GRCh38: 22:38298785-38298785
4 RALGAPA1 NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter) SNV Pathogenic
691794 rs1595416752 GRCh37: 14:36217916-36217916
GRCh38: 14:35748710-35748710
5 RALGAPA1 NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs) DEL Pathogenic
691795 rs1594878619 GRCh37: 14:36096643-36096643
GRCh38: 14:35627437-35627437
6 RALGAPA1 NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter) SNV Pathogenic
691796 rs1595446167 GRCh37: 14:36226052-36226052
GRCh38: 14:35756846-35756846
7 RALGAPA1 NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter) SNV Pathogenic
691797 rs1594642302 GRCh37: 14:36041884-36041884
GRCh38: 14:35572678-35572678
8 RALGAPA1 NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser) SNV Pathogenic
691798 rs1595085511 GRCh37: 14:36143795-36143795
GRCh38: 14:35674589-35674589
9 WWOX NM_016373.4(WWOX):c.705dup (p.His236fs) DUP Pathogenic
803276 rs1597216056 GRCh37: 16:78458862-78458863
GRCh38: 16:78424965-78424966
10 WWOX NC_000016.10:g.(?_78278583)_(78386968_?)del DEL Pathogenic
833164 GRCh37: 16:78312480-78420865
GRCh38:
11 WWOX NC_000016.10:g.(?_78099759)_(78115174_?)del DEL Pathogenic
830545 GRCh37: 16:78133656-78149071
GRCh38:
12 KCNQ2 NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) SNV Pathogenic
975416 rs2082232988 GRCh37: 20:62103531-62103531
GRCh38: 20:63472178-63472178
13 MTHFR NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del) MICROSAT Pathogenic
873153 rs763186690 GRCh37: 1:11852374-11852376
GRCh38: 1:11792317-11792319
14 WWOX NC_000016.9:g.(?_78133671)_(78149061_?)del DEL Pathogenic
1076468 GRCh37: 16:78133671-78149061
GRCh38:
15 WWOX NC_000016.9:g.(?_78420747)_(78458962_?)del DEL Pathogenic
1076469 GRCh37: 16:78420747-78458962
GRCh38:
16 WWOX NC_000016.9:g.(?_78420747)_(78466659_?)del DEL Pathogenic
1076470 GRCh37: 16:78420747-78466659
GRCh38:
17 SCN1A NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) INDEL Pathogenic
1174107 GRCh37: 2:166930004-166930006
GRCh38: 2:166073494-166073496
18 ARX NM_139058.3(ARX):c.1472del (p.Leu491fs) DEL Pathogenic
1299655 GRCh37: X:25023004-25023004
GRCh38: X:25004887-25004887
19 TBC1D24 NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) SNV Pathogenic
593459 rs1567411053 GRCh37: 16:2546280-2546280
GRCh38: 16:2496279-2496279
20 TBC1D24 NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) DEL Pathogenic
1210587 GRCh37: 16:2550826-2550841
GRCh38: 16:2500825-2500840
21 TBC1D24 NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) DEL Pathogenic
1369893 GRCh37: 16:2546205-2546205
GRCh38: 16:2496204-2496204
22 TBC1D24 NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) DEL Pathogenic
1357131 GRCh37: 16:2550360-2550360
GRCh38: 16:2500359-2500359
23 TBC1D24 NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) SNV Pathogenic
1378399 GRCh37: 16:2547724-2547724
GRCh38: 16:2497723-2497723
24 ARX NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) SNV Pathogenic
1374869 GRCh37: X:25025551-25025551
GRCh38: X:25007434-25007434
25 ARX NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) DEL Pathogenic
803782 rs1601946502 GRCh37: X:25025285-25025307
GRCh38: X:25007168-25007190
26 ARX NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) DEL Pathogenic
803781 rs1601946492 GRCh37: X:25025248-25025262
GRCh38: X:25007131-25007145
27 ARX NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) SNV Pathogenic
29965 rs387906715 GRCh37: X:25022872-25022872
GRCh38: X:25004755-25004755
28 LOC109610631, ARX NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) DUP Pathogenic
29963 rs1556056125 GRCh37: X:25031650-25031651
GRCh38: X:25013533-25013534
29 ARX NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) SNV Pathogenic
11188 rs104894743 GRCh37: X:25031054-25031054
GRCh38: X:25012937-25012937
30 MAF, WWOX NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) SNV Pathogenic
1381570 GRCh37: 16:79245505-79245505
GRCh38: 16:79211608-79211608
31 TBC1D24 NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) SNV Pathogenic
1397090 GRCh37: 16:2550819-2550819
GRCh38: 16:2500818-2500818
32 ARX NM_139058.3(ARX):c.642_645del (p.Pro215fs) DEL Pathogenic
1410535 GRCh37: X:25031467-25031470
GRCh38: X:25013350-25013353
33 TBC1D24 NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) DEL Pathogenic
1456664 GRCh37: 16:2546900-2546900
GRCh38: 16:2496899-2496899
34 TBC1D24 NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) DEL Pathogenic
1459471 GRCh37: 16:2546955-2546955
GRCh38: 16:2496954-2496954
35 ARX NM_139058.3(ARX):c.1120-2A>G SNV Pathogenic
1434577 GRCh37: X:25025558-25025558
GRCh38: X:25007441-25007441
36 WWOX NM_016373.4(WWOX):c.333del (p.Thr112fs) DEL Pathogenic
1452002 GRCh37: 16:78148974-78148974
GRCh38: 16:78115077-78115077
37 TBC1D24 NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) SNV Pathogenic
1453407 GRCh37: 16:2546785-2546785
GRCh38: 16:2496784-2496784
38 TBC1D24 NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) DUP Pathogenic
1451981 GRCh37: 16:2548395-2548396
GRCh38: 16:2498394-2498395
39 WWOX NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) SNV Pathogenic
241104 rs878855021 GRCh37: 16:78458940-78458940
GRCh38: 16:78425043-78425043
40 WWOX NM_016373.4(WWOX):c.854dup (p.Asn285fs) DUP Pathogenic
941526 rs1394607357 GRCh37: 16:78466441-78466442
GRCh38: 16:78432544-78432545
41 ARX NM_139058.3(ARX):c.956C>A (p.Ser319Ter) SNV Pathogenic
945320 rs2048708701 GRCh37: X:25031156-25031156
GRCh38: X:25013039-25013039
42 WWOX NM_016373.4(WWOX):c.127C>T (p.Gln43Ter) SNV Pathogenic
1068501 GRCh37: 16:78142339-78142339
GRCh38: 16:78108442-78108442
43 WWOX NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter) SNV Pathogenic
1072064 GRCh37: 16:78148963-78148963
GRCh38: 16:78115066-78115066
44 TBC1D24 NM_001199107.2(TBC1D24):c.715del (p.Val239fs) DEL Pathogenic
1072207 GRCh37: 16:2546863-2546863
GRCh38: 16:2496862-2496862
45 TBC1D24 NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) SNV Pathogenic
474302 rs773916549 GRCh37: 16:2546265-2546265
GRCh38: 16:2496264-2496264
46 WWOX NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) SNV Pathogenic
568364 rs1567542020 GRCh37: 16:78420823-78420823
GRCh38: 16:78386926-78386926
47 TBC1D24 NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) SNV Pathogenic
569501 rs1567413218 GRCh37: 16:2548386-2548386
GRCh38: 16:2498385-2498385
48 WWOX NM_016373.4(WWOX):c.409+1G>C SNV Pathogenic
410092 rs1060502727 GRCh37: 16:78149052-78149052
GRCh38: 16:78115155-78115155
49 WWOX NC_000016.10:g.(?_78386840)_(78386968_?)del DEL Pathogenic
583631 GRCh37: 16:78420737-78420865
GRCh38: 16:78386840-78386968
50 WWOX NC_000016.10:g.(?_78164163)_(78164309_?)del DEL Pathogenic
584160 GRCh37: 16:78198060-78198206
GRCh38: 16:78164163-78164309

Copy number variations for West Syndrome from CNVD:

6
# 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

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 intercalated disc GO:0014704 9.43 SLC2A1 SCN2A SCN1A
2 sodium channel complex GO:0034706 9.33 SCN2A SCN1A
3 node of Ranvier GO:0033268 9.1 SCN2A SCN1A KCNQ2

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

# Name GO ID Score Top Affiliating Genes
1 forebrain morphogenesis GO:0048853 9.13 TUBA1A PTEN
2 negative regulation of Wnt signaling pathway GO:0030178 9.1 WWOX TSC2 CSNK1E

Sources for West Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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