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IS
MCID: WST001
MIFTS: 64

West Syndrome (IS)

Categories: Endocrine diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for West Syndrome

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MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 40 12 73 20 53 58 36 29 6 15 39 70
Infantile Spasms 73 53 58 29 54 6
X-Linked Infantile Spasm Syndrome 20 70
X-Linked Infantile Spasms 20 6
Infantile Spasm 20 70
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 20
Intellectual Disability-Hypsarrhythmia Syndrome 58
Epileptic Encephalopathy, Early Infantile, 1 40
Infantile Spasms Syndrome 12
Spasms, Infantile 44
West's Syndrome 20
is 20

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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
KEGG 36 H01460
MeSH 44 D013036
NCIt 50 C84788
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 71 C0037769
Orphanet 58 ORPHA3451
UMLS 70 C0037769 C2931919 C3887898
Sources

Summaries for West Syndrome

About this section
GARD : 20 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 developmental and epileptic encephalopathy 1 and early infantile epileptic encephalopathy, 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 Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Ethanol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, 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 : 73 Epileptic spasms, is an uncommon-to-rare epileptic disorder in infants, children and adults. One of the... more...

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Related Diseases for West Syndrome

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

(show top 50) (show all 553)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 1 33.0 WWOX TPTEP2-CSNK1E TBC1D24 STXBP1 MAF LOC109610631
2 early infantile epileptic encephalopathy 32.7 WWOX TSC2 TBC1D24 STXBP1 ST3GAL3 SPTAN1
3 lennox-gastaut syndrome 32.7 TSC2 STXBP1 ST3GAL3 SCN2A KCNQ2 GRIN2B
4 lissencephaly, x-linked, 2 32.4 LOC109610631 ARX
5 developmental and epileptic encephalopathy 4 32.1 STXBP1 CDKL5
6 encephalopathy 31.7 STXBP1 SPTAN1 SCN2A KCNQ2 CDKL5 ARX
7 seizure disorder 31.5 WWOX TBC1D24 STXBP1 SPTAN1 SCN2A PTEN
8 epilepsy 31.4 WWOX TSC2 TBC1D24 STXBP1 ST3GAL3 SPTAN1
9 alacrima, achalasia, and mental retardation syndrome 31.3 WWOX TBC1D24 STXBP1 SCN2A KCNQ2 GRIN2B
10 microcephaly 31.2 WWOX TBC1D24 STXBP1 PTEN MTHFR GRIN2B
11 focal epilepsy 31.2 TSC2 TBC1D24 SPTAN1 SCN2A PTEN GRIN2B
12 early myoclonic encephalopathy 31.1 TBC1D24 STXBP1 SCN2A KCNQ2 CDKL5 ARX
13 ohtahara syndrome 31.0 STXBP1 SPTAN1 SCN2A KCNQ2 CDKL5 ARX
14 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.0 TSC2 PTEN
15 benign familial neonatal epilepsy 30.9 STXBP1 SCN2A KCNQ2 CDKL5
16 dravet syndrome 30.9 TSC2 TBC1D24 STXBP1 SCN2A KCNQ2 GRIN2B
17 stxbp1 encephalopathy 30.7 STXBP1 CDKL5
18 generalized epilepsy with febrile seizures plus 30.7 STXBP1 SCN2A KCNQ2 CDKL5 ARX
19 landau-kleffner syndrome 30.7 STXBP1 SCN2A KCNQ2 GRIN2B
20 autism spectrum disorder 30.7 TSC2 STXBP1 SCN2A PTEN MTHFR KCNQ2
21 mental retardation, x-linked, with or without seizures, arx-related 30.6 LOC109610631 ARX
22 epilepsy, idiopathic generalized 30.6 STXBP1 SCN2A KCNQ2 CDKL5
23 autism 30.6 TSC2 STXBP1 SCN2A PTEN MTHFR GRIN2B
24 childhood absence epilepsy 30.6 STXBP1 SCN2A KCNQ2 CDKL5
25 epilepsy, focal, with speech disorder and with or without mental retardation 30.6 SPTAN1 GRIN2B
26 benign familial infantile epilepsy 30.4 STXBP1 SCN2A KCNQ2 CDKL5
27 epilepsy, myoclonic juvenile 30.4 STXBP1 SCN2A KCNQ2 CDKL5
28 seizures, benign familial infantile, 3 30.3 SCN2A KCNQ2
29 methylmalonic acidemia 30.2 TSC2 MTHFR CDKL5
30 aicardi syndrome 30.2 CDKL5 ARX
31 infantile spasms broad thumbs 11.5
32 cryptogenic late-onset epileptic spasms 11.2
33 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 11.1
34 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.1
35 developmental and epileptic encephalopathy 58 11.1
36 developmental and epileptic encephalopathy 63 11.1
37 developmental and epileptic encephalopathy 87 11.1
38 cdkl5 deficiency disorder 11.1
39 developmental and epileptic encephalopathy 12 11.1
40 pachygyria 11.0
41 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 11.0
42 partington x-linked mental retardation syndrome 11.0
43 chromosome 15q11-q13 duplication syndrome 11.0
44 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 11.0
45 sandifer syndrome 11.0
46 developmental and epileptic encephalopathy 3 11.0
47 developmental and epileptic encephalopathy 5 11.0
48 neurodegeneration with brain iron accumulation 5 11.0
49 developmental and epileptic encephalopathy 11 11.0
50 developmental and epileptic encephalopathy 40 11.0

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



Diseases related to West Syndrome
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Symptoms & Phenotypes for West Syndrome

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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

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.66 SPTAN1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.66 SCN2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 SPTAN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.66 SCN2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.66 SPTAN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.66 SPTAN1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.66 SCN2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.66 GRIN2B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.66 GRIN2B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.66 SCN2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.66 SPTAN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.66 CSNK1E
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.66 SCN2A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.66 SCN2A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.66 CSNK1E
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 SCN2A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.66 SPTAN1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.66 CSNK1E SPTAN1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 CSNK1E SCN2A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.66 SPTAN1

MGI Mouse Phenotypes related to West Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ARX CDKL5 CSNK1E GRIN2B KCNQ2 MAF
2 growth/size/body region MP:0005378 9.97 ARX GRIN2B KCNQ2 MAF MTHFR PLCB1
3 mortality/aging MP:0010768 9.8 ARX GRIN2B KCNQ2 MAF MTHFR PLCB1
4 nervous system MP:0003631 9.5 ARX CDKL5 CSNK1E GRIN2B KCNQ2 MAF
Sources

Drugs & Therapeutics for West Syndrome

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

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

Interventional clinical trials:

(show all 34)
# 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 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
4 Efficacy and Tolerability of the Modified Atkins Diet in Patients With Infantile Spasms: a Pilot Study. Completed NCT01006811 Phase 2, Phase 3
5 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
6 Addition of Pyridoxine to Prednisolone in the Treatment of Infantile Spasms: A Randomized Controlled Trial Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
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 NCT02954887 Phase 3 GWP42003-P
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 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
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 Terminated NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
12 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
13 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
14 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
15 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
16 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
17 A Phase II Study of Fenfluramine for Treatment of Refractory Infantile Spasms Not yet recruiting NCT04289467 Phase 2 Fenfluramine
18 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
19 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
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 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 Not yet recruiting NCT04727970 Phase 1 Tricaprilin
22 Early Treatment of Infants at High Risk of Developing West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964 adrenocorticotropin hormone
23 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
24 Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome Completed NCT02885389
25 Sabril Patient Registry Completed NCT01073579 Sabril®
26 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
27 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®
28 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
29 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
30 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
31 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
32 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
33 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
34 Trial of Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


topiramate

Cochrane evidence based reviews: spasms, infantile

Sources

Genetic Tests for West Syndrome

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Genetic tests related to West Syndrome:

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

Anatomical Context for West Syndrome

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MalaCards organs/tissues related to West Syndrome:

40
Brain, Eye, Heart, Temporal Lobe, Cortex, Pituitary, Pancreas
Sources

Publications for West Syndrome

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Articles related to West Syndrome:

(show top 50) (show all 3255)
# Title Authors PMID Year
1
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 54 61 6
20397747 2010
2
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 54 61 6
19780792 2010
3
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 61 54 6
19471977 2009
4
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
5
Key clinical features to identify girls with CDKL5 mutations. 6 54 61
18790821 2008
6
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 6 54 61
17993579 2008
7
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 6 61 54
17668384 2007
8
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 61 6 54
17664401 2007
9
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. 54 6 61
16813600 2006
10
Myoclonic encephalopathy in the CDKL5 gene mutation. 61 6 54
16326141 2006
11
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. 61 54 6
16330482 2005
12
Early onset seizures and Rett-like features associated with mutations in CDKL5. 61 6 54
16015284 2005
13
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 6 61 54
15689447 2005
14
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. 6 61 54
15499549 2004
15
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 61 54 6
15492925 2004
16
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 61 54 6
12376946 2002
17
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 54 6 61
11889467 2002
18
Genotype-phenotype correlation on 45 individuals with West syndrome. 61 6
31791873 2020
19
Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. 6 61
31492455 2020
20
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. 61 6
30089820 2018
21
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 61 6
26486472 2016
22
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 61 6
26482601 2016
23
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature. 61 6
28503605 2016
24
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 61 6
25266480 2014
25
The genetic landscape of infantile spasms. 6 61
24781210 2014
26
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. 61 6
24715584 2014
27
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 6 61
24564546 2014
28
The genetic basis of DOORS syndrome: an exome-sequencing study. 61 6
24291220 2014
29
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 61 6
24272827 2014
30
De novo mutations in epileptic encephalopathies. 6 61
23934111 2013
31
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 61 6
22656320 2013
32
West syndrome caused by ST3Gal-III deficiency. 61 6
23252400 2013
33
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. 61 6
23064044 2013
34
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 6 61
23246292 2013
35
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. 6 61
22867051 2012
36
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 6 61
22678952 2012
37
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. 6 61
22258530 2012
38
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. 61 6
22429196 2012
39
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 6 61
22670135 2012
40
Clinical phenotype of 5 females with a CDKL5 mutation. 6 61
21765152 2012
41
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 6 61
21204215 2011
42
Familial Ohtahara syndrome due to a novel ARX gene mutation. 6 61
21108397 2010
43
ARX spectrum disorders: making inroads into the molecular pathology. 61 6
20506206 2010
44
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 61 6
20493457 2010
45
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 6 61
19738637 2010
46
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. 61 6
19606478 2009
47
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 6 61
19507262 2009
48
CDKL5 disruption by t(X;18) in a girl with West syndrome. 6 61
18564362 2008
49
Expansion of the ARX spectrum. 6 61
18462864 2008
50
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. 6 61
17331656 2007
Sources

Variations for West Syndrome

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ClinVar genetic disease variations for West Syndrome:

6 (show top 50) (show all 1808)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARX NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) SNV Pathogenic 11188 rs104894743 GRCh37: X:25031054-25031054
GRCh38: X:25012937-25012937
2 ARX ARX, 1,517-BP DEL Deletion Pathogenic 11189 GRCh37:
GRCh38:
3 LOC109610631 , ARX NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) Duplication Pathogenic 11202 rs1365611175 GRCh37: X:25031770-25031771
GRCh38: X:25013653-25013654
4 ARX NM_139058.3(ARX):c.1465del (p.Ala489fs) Deletion Pathogenic 157748 rs587783191 GRCh37: X:25023011-25023011
GRCh38: X:25004894-25004894
5 CDKL5 CDKL5, 1-BP DEL, 183T Deletion Pathogenic 11494 GRCh37:
GRCh38:
6 CDKL5 CDKL5, IVSAS13, G-A, -1 SNV Pathogenic 11495 GRCh37:
GRCh38:
7 CDKL5 CDKL5, IVS6AS, G-T, -1 SNV Pathogenic 11501 GRCh37:
GRCh38:
8 CDKL5 NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) SNV Pathogenic 11504 rs267606713 GRCh37: X:18616619-18616619
GRCh38: X:18598499-18598499
9 CDKL5 NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) SNV Pathogenic 18450 rs267606715 GRCh37: X:18602452-18602452
GRCh38: X:18584332-18584332
10 SPTAN1 SPTAN1, 6-BP DUP, NT6923 Duplication Pathogenic 12867 GRCh37:
GRCh38:
11 LOC109610631 , ARX NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) Duplication Pathogenic 29963 rs1556056125 GRCh37: X:25031650-25031651
GRCh38: X:25013533-25013534
12 ARX NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) SNV Pathogenic 29964 rs398122854 GRCh37: X:25033774-25033774
GRCh38: X:25015657-25015657
13 ARX NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) SNV Pathogenic 29965 rs387906715 GRCh37: X:25022872-25022872
GRCh38: X:25004755-25004755
14 CDKL5 NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) SNV Pathogenic 143767 rs267608561 GRCh37: X:18622083-18622083
GRCh38: X:18603963-18603963
15 CDKL5 NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) Deletion Pathogenic 143768 rs267608565 GRCh37: X:18622123-18622123
GRCh38: X:18604003-18604003
16 CDKL5 NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) Duplication Pathogenic 143769 rs267608566 GRCh37: X:18622123-18622124
GRCh38: X:18604003-18604004
17 CDKL5 NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) SNV Pathogenic 143771 rs267608618 GRCh37: X:18622282-18622282
GRCh38: X:18604162-18604162
18 CDKL5 NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) Deletion Pathogenic 143792 rs267608648 GRCh37: X:18627001-18627001
GRCh38: X:18608881-18608881
19 CDKL5 NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) Duplication Pathogenic 143793 rs267608648 GRCh37: X:18627000-18627001
GRCh38: X:18608880-18608881
20 CDKL5 NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) Deletion Pathogenic 143795 rs267608651 GRCh37: X:18627602-18627602
GRCh38: X:18609482-18609482
21 CDKL5 NM_001323289.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) Microsatellite Pathogenic 143799 rs267608441 GRCh37: X:18593553-18593556
GRCh38: X:18575433-18575436
22 CDKL5 NM_001323289.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) Microsatellite Pathogenic 143800 rs267608654 GRCh37: X:18638032-18638033
GRCh38: X:18619912-18619913
23 CDKL5 NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) Deletion Pathogenic 143802 rs267608655 GRCh37: X:18638072-18638076
GRCh38: X:18619952-18619956
24 CDKL5 NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) Deletion Pathogenic 143805 rs267608660 GRCh37: X:18646497-18646497
GRCh38: X:18628377-18628377
25 CDKL5 NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) Deletion Pathogenic 143806 rs267608661 GRCh37: X:18646523-18646523
GRCh38: X:18628403-18628403
26 CDKL5 NM_001323289.2(CDKL5):c.39del (p.Phe13fs) Deletion Pathogenic 143819 rs267608415 GRCh37: X:18525253-18525253
GRCh38: X:18507133-18507133
27 CDKL5 NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) SNV Pathogenic 143821 rs267608477 GRCh37: X:18600032-18600032
GRCh38: X:18581912-18581912
28 CDKL5 NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) SNV Pathogenic 143824 rs61749704 GRCh37: X:18602458-18602458
GRCh38: X:18584338-18584338
29 CDKL5 NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) SNV Pathogenic 143830 rs267608511 GRCh37: X:18606178-18606178
GRCh38: X:18588058-18588058
30 CDKL5 NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) Deletion Pathogenic 143833 rs267608528 GRCh37: X:18613523-18613524
GRCh38: X:18595403-18595404
31 CDKL5 NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) Duplication Pathogenic 143836 rs267608537 GRCh37: X:18616621-18616622
GRCh38: X:18598501-18598502
32 CDKL5 NM_001323289.2(CDKL5):c.884del (p.Pro295fs) Deletion Pathogenic 143837 rs267608542 GRCh37: X:18616638-18616638
GRCh38: X:18598518-18598518
33 CDKL5 NM_003159.2(CDKL5):c.100-?_145+?del Deletion Pathogenic 189550 GRCh37:
GRCh38:
34 CDKL5 NM_001323289.2(CDKL5):c.100-2A>G SNV Pathogenic 156073 rs267608423 GRCh37: X:18582595-18582595
GRCh38: X:18564475-18564475
35 CDKL5 NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) Deletion Pathogenic 189551 rs786204964 GRCh37: X:18622052-18622073
GRCh38: X:18603932-18603953
36 CDKL5 and overlap with 1 gene(s) NM_003159.2(CDKL5):c.146-?_*85del Deletion Pathogenic 189559 GRCh37: X:18593474-18671749
GRCh38: X:18575354-18653629
37 CDKL5 and overlap with 1 gene(s) NM_003159.2(CDKL5):c.-162-?_*85del Deletion Pathogenic 189561 GRCh37: X:18525055-18671749
GRCh38: X:18506935-18653629
38 CDKL5 NM_003159.2(CDKL5):c.-162-?_145+?del Deletion Pathogenic 189562 GRCh37:
GRCh38:
39 CDKL5 NM_003159.2(CDKL5):c.-162-?_64+?del Deletion Pathogenic 189563 GRCh37:
GRCh38:
40 CDKL5 NM_001323289.2(CDKL5):c.-162-2A>G SNV Pathogenic 189565 rs786204973 GRCh37: X:18525053-18525053
GRCh38: X:18506933-18506933
41 CDKL5 NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) Duplication Pathogenic 189566 rs786204974 GRCh37: X:18622826-18622827
GRCh38: X:18604706-18604707
42 CDKL5 NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) Deletion Pathogenic 189569 rs786204977 GRCh37: X:18593535-18593541
GRCh38: X:18575415-18575421
43 CDKL5 NM_001323289.2(CDKL5):c.2103_2104AC[1] (p.His702fs) Microsatellite Pathogenic 189570 rs786204978 GRCh37: X:18627641-18627642
GRCh38: X:18609521-18609522
44 CDKL5 NM_001323289.2(CDKL5):c.2277-2A>G SNV Pathogenic 189571 rs786204979 GRCh37: X:18637985-18637985
GRCh38: X:18619865-18619865
45 CDKL5 NM_001323289.2(CDKL5):c.2376+1G>A SNV Pathogenic 156080 rs267608656 GRCh37: X:18638087-18638087
GRCh38: X:18619967-18619967
46 CDKL5 NM_001323289.2(CDKL5):c.2376+1G>C SNV Pathogenic 156081 rs267608656 GRCh37: X:18638087-18638087
GRCh38: X:18619967-18619967
47 CDKL5 and overlap with 1 gene(s) NM_003159.2(CDKL5):c.2377-?_*85del Deletion Pathogenic 189572 GRCh37: X:18643248-18671749
GRCh38: X:18625128-18653629
48 CDKL5 NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) SNV Pathogenic 189573 rs17857094 GRCh37: X:18643365-18643365
GRCh38: X:18625245-18625245
49 CDKL5 and overlap with 1 gene(s) NM_003159.2(CDKL5):c.2497-?_*85del Deletion Pathogenic 189574 GRCh37: X:18646491-18671749
GRCh38: X:18628371-18653629
50 CDKL5 NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del Deletion Pathogenic 189575 GRCh37:
GRCh38:

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
Sources

Expression for West Syndrome

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Search GEO for disease gene expression data for West Syndrome.
Sources

Pathways for West Syndrome

About this section

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
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
11.92 PLCB1 KCNQ2 GRIN2B CSNK1E
2
Neuroscience 4
11.89 STXBP1 SCN2A KCNQ2 GRIN2B CSNK1E
3
Glioblastoma Multiforme 63
11.65 TSC2 PTEN PLCB1
4
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 23
Show member pathways
 11.46 PLCB1 GRIN2B CSNK1E
5
Wnt Signaling Pathway Netpath 1
11.06 TSC2 TPTEP2-CSNK1E CSNK1E
6
WNT mediated activation of DVL 65
Show member pathways
 10.61 TPTEP2-CSNK1E CSNK1E
7
Circadian rhythm pathway 1
10.51 TPTEP2-CSNK1E CSNK1E
8
Interaction between L1 and Ankyrins 65
10.28 SPTAN1 SCN2A KCNQ2
Sources

GO Terms for West Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 node of Ranvier GO:0033268 8.62 SCN2A KCNQ2

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

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic depression GO:0060292 9.4 STXBP1 PTEN
2 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.37 TSC2 PTEN
3 memory GO:0007613 9.33 SCN2A PTEN PLCB1
4 glutamate receptor signaling pathway GO:0007215 9.32 PLCB1 GRIN2B
5 insulin-like growth factor receptor signaling pathway GO:0048009 9.26 TSC2 PLCB1
6 regulation of cell cycle GO:0051726 9.26 TSC2 PTEN PLCB1 CDKL5
7 positive regulation of GTPase activity GO:0043547 9.02 TSC2 TBC1D24 RALGAPA1 PLCB1 CDKL5

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.92 TSC2 TBC1D24 RALGAPA1 PLCB1
Sources

Sources for West Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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