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MCID: WST001
MIFTS: 59

West Syndrome

Categories: 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 42 12 77 54 55 60 38 30 6 15 41 74
Infantile Spasms 77 55 60 30 56 6
X-Linked Infantile Spasm Syndrome 54 74
Infantile Spasm 54 74
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 54
Intellectual Disability-Hypsarrhythmia Syndrome 60
Epileptic Encephalopathy, Early Infantile, 1 42
Infantile Spasms Syndrome 12
X-Linked Infantile Spasms 54
West's Syndrome 54
Mesh:d013036 12
is 54

Characteristics:

Orphanet epidemiological data:

60
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
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
KEGG 38 H01460
NCIt 51 C84788
ICD10 via Orphanet 35 G40.4
UMLS via Orphanet 75 C0037769
Orphanet 60 ORPHA3451
Sources

Summaries for West Syndrome

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NIH Rare Diseases : 54 West syndromeis characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many disorders leading to brain injury, such as birth problems, cerebral anomalies, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found. The goals of treatment are to reduce or eliminate seizures, and include several medications, such as corticoids, avigabatrin, and antiepileptic drugs. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.

MalaCards based summary : West Syndrome, also known as 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 Neuroscience. The drugs Vigabatrin and PK 11195 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, 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 : 55 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.

Wikipedia : 77 Epileptic spasms, also known as infantile spasms, juvenile spasms, or West syndrome is an... more...

Sources

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 242)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 33.7 ARX PLCB1
2 lennox-gastaut syndrome 32.7 POMC ST3GAL3 STXBP1
3 early infantile epileptic encephalopathy 32.2 ARX CDKL5 GUF1 PLCB1 SCN2A SIK1
4 seizure disorder 30.9 CDKL5 MECP2 SCN2A
5 encephalopathy 30.8 ARX CDKL5 MECP2 SPTAN1 STXBP1
6 epilepsy 30.4 ARX CDKL5 GRIN2B MECP2 SCN2A STXBP1
7 early myoclonic encephalopathy 30.2 ARX CDKL5 SIK1
8 focal epilepsy 29.8 CDKL5 GRIN2B SCN2A SPTAN1 TSC2
9 autism 29.6 CDKL5 GRIN2B MECP2 PTEN SCN2A TSC2
10 infantile spasms broad thumbs 12.2
11 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.2
12 aicardi syndrome 12.1
13 cryptogenic late-onset epileptic spasms 11.5
14 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.5
15 epileptic encephalopathy, early infantile, 2 11.5
16 pachygyria 11.4
17 mental retardation, x-linked, with or without seizures, arx-related 11.4
18 partington x-linked mental retardation syndrome 11.4
19 peho syndrome 11.3
20 cdkl5 deficiency disorder 11.2
21 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 11.1
22 epileptic encephalopathy, early infantile, 11 11.0
23 epileptic encephalopathy, early infantile, 12 11.0
24 epileptic encephalopathy, early infantile, 13 11.0
25 scn1a-related seizure disorders 11.0
26 aicardi-goutieres syndrome 1 11.0
27 corpus callosum, agenesis of, with abnormal genitalia 11.0
28 lissencephaly, x-linked, 2 11.0
29 band heterotopia 11.0
30 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.0
31 peho-like syndrome 11.0
32 fukuyama type muscular dystrophy 11.0
33 sandifer syndrome 11.0
34 scn8a encephalopathy 11.0
35 x-linked lissencephaly with abnormal genitalia 11.0
36 neonatal period electroclinical syndrome 10.5 ARX CDKL5 SCN2A STXBP1
37 epileptic encephalopathy, early infantile, 6 10.5 CDKL5 SCN2A STXBP1
38 specific developmental disorder 10.4 ARX CDKL5 MECP2 POMC
39 infancy electroclinical syndrome 10.4 ARX CDKL5 POMC SCN2A STXBP1
40 visual epilepsy 10.4 CDKL5 MECP2 SCN2A STXBP1
41 benign epilepsy with centrotemporal spikes 10.4 PLCB1 SCN2A SPTAN1
42 gait apraxia 10.4 CDKL5 MECP2
43 autosomal dominant non-syndromic intellectual disability 10.4 GRIN2B SCN2A STXBP1
44 disease of mental health 10.4 GRIN2B MECP2 POMC
45 malignant migrating partial seizures of infancy 10.4 PLCB1 SCN2A
46 gangliocytoma 10.4 POMC PTEN
47 pervasive developmental disorder 10.4 CDKL5 MECP2 TSC2
48 mental retardation, x-linked, syndromic, hedera type 10.3 ARX SCN2A
49 autism spectrum disorder 10.2 GRIN2B MECP2 PTEN SCN2A TSC2
50 cytomegalovirus infection 10.2

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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
2 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
3 hypsarrhythmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002521
4 infantile spasms 60 33 hallmark (90%) Very frequent (99-80%) HP:0012469
5 abnormality of skin morphology 60 33 frequent (33%) Frequent (79-30%) HP:0011121
6 abnormality of the nervous system 60 Frequent (79-30%)

UMLS symptoms related to West Syndrome:


seizures

MGI Mouse Phenotypes related to West Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ARX CDKL5 GRIN2B MECP2 NTRK2 PIGA
2 growth/size/body region MP:0005378 9.93 ARX CNPY3 GRIN2B MECP2 NTRK2 PIGA
3 mortality/aging MP:0010768 9.77 ARX CNPY3 GRIN2B MECP2 NTRK2 PIGA
4 nervous system MP:0003631 9.44 ARX CDKL5 GRIN2B MECP2 NTRK2 PIGA
Sources

Drugs & Therapeutics for West Syndrome

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vigabatrin Approved Phase 4,Phase 3,Not Applicable 68506-86-5, 60643-86-9 5665
2 PK 11195 Phase 4 85532-75-8
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 GABA Agents Phase 4,Phase 3,Phase 2,Not Applicable
6
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 3,Phase 2 2921-57-5
8
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 2 302-25-0
9
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
10
Ethanol Approved Phase 3 64-17-5 702
11 Strawberry Approved Phase 3
12
Cosyntropin Approved Phase 3 16960-16-0 16129617
13
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
15
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3,Phase 2 65-23-6 1054
16
Prednisolone hemisuccinate Experimental Phase 3,Phase 2 2920-86-7
17 Calcium, Dietary Phase 2, Phase 3
18 Soy Bean Phase 2, Phase 3
19 Hormones Phase 3,Phase 2,Not Applicable
20 Autonomic Agents Phase 3,Phase 2
21 Prednisolone acetate Phase 3,Phase 2
22 Peripheral Nervous System Agents Phase 3,Phase 2
23 Anti-Inflammatory Agents Phase 3,Phase 2
24 Antiemetics Phase 3,Phase 2
25 Methylprednisolone Acetate Phase 3,Phase 2
26 Antineoplastic Agents, Hormonal Phase 3,Phase 2
27 Hormone Antagonists Phase 3,Phase 2,Not Applicable
28 glucocorticoids Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
30 Protective Agents Phase 3,Phase 2
31 Gastrointestinal Agents Phase 3,Phase 2
32 Neuroprotective Agents Phase 3,Phase 2
33 Vitamin B 6 Phase 3,Phase 2
34 Micronutrients Phase 3,Phase 2
35 Vitamin B9 Phase 3,Phase 2
36 Folate Phase 3,Phase 2
37 Nutrients Phase 3,Phase 2
38 Vitamin B Complex Phase 3,Phase 2
39 Trace Elements Phase 3,Phase 2
40 Vitamins Phase 3,Phase 2
41 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
42 Epidiolex Phase 3,Phase 2,Phase 1
43
Pyridoxal Experimental, Nutraceutical Phase 3,Phase 2 66-72-8 1050
44
Nitrazepam Approved Phase 2 146-22-5 4506
45
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
46
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
47 Pregnanolone Phase 2 128-20-1
48 Central Nervous System Depressants Phase 2
49 Anesthetics Phase 2
50 beta-endorphin Phase 2,Not Applicable

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Evaluation of Neuroinflammation in Children With Infantile Spasms Completed NCT02092883 Phase 4 ACTH
2 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
3 Use of the Modified Atkins Diet in Infantile Spasms Completed NCT01006811 Phase 2, Phase 3
4 Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Completed NCT01575639 Phase 3 Oral prednisolone
5 Addition of Pyridoxine to Prednisolone in Infantile Spasms Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
6 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
7 Evaluation of the Modified Atkins Diet in Children With Epileptic Spasms Recruiting NCT03807141 Phase 2, Phase 3
8 A Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms Active, not recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
9 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Active, not recruiting NCT02953548 Phase 3 GWP42003-P
10 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Active, not recruiting NCT02954887 Phase 3 GWP42003-P
11 A Novel Approach to Infantile Spasms Enrolling by invitation NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
12 Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms Not yet recruiting NCT03876444 Phase 2, Phase 3 Intravenous Methylprednisolone;Oral Pednisolone
13 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
14 A Randomized, Controlled Trial of Ganaxolone in 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 Clinical Study to Evaluate the Potential Role of ACTH Gel in Patients With Scleritis Recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
17 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
18 A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS) Terminated NCT02829827 Phase 2 Radiprodil
19 Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
20 Open-label Extension to Protocol 1042-0500 Terminated NCT00442104 Phase 2 Ganaxolone
21 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
22 Molecular Genetics in Infantile Spasms Completed NCT02885389
23 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy Completed NCT02220114 Not Applicable Vigabatrin: Vigabatrin new ST formulation then Sabril®
24 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
25 Sabril Patient Registry Completed NCT01073579 Sabril®
26 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
27 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Completed NCT01767779
28 Epilepsy Phenome/Genome Project Completed NCT00552045
29 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
30 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
31 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Active, not recruiting NCT01367964 Not Applicable adrenocorticotropin hormone
32 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :
Sources

Genetic Tests for West Syndrome

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Genetic tests related to West Syndrome:

# Genetic test Affiliating Genes
1 West Syndrome 30
2 Infantile Spasms 30
Sources

Anatomical Context for West Syndrome

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MalaCards organs/tissues related to West Syndrome:

42
Brain, Testes, Skin, Eye, Temporal Lobe, Pituitary, Cortex
Sources

Publications for West Syndrome

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Articles related to West Syndrome:

(show top 50) (show all 1282)
# Title Authors Year
1
Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response. ( 30671494 )
2019
2
Brain MRI abnormalities in patients with infantile spasms and Down syndrome. ( 30616066 )
2019
3
CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms. ( 30503720 )
2019
4
Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome - A Randomized Study. ( 30232789 )
2019
5
A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation. ( 30236769 )
2019
6
Safety, tolerability, and effectiveness of oral zonisamide therapy in comparison with intramuscular adrenocorticotropic hormone therapy in infants with West syndrome. ( 30293931 )
2019
7
Efficacy and safety of pyridoxal in West syndrome: A retrospective study. ( 30528382 )
2019
8
De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic west syndrome. ( 30536491 )
2019
9
West Syndrome: Questions Aplenty- Few Answers. ( 30628042 )
2019
10
Neurodevelopmental status in infantile spasms and West syndrome: the challenge of assessment. ( 30945274 )
2019
11
Neurodevelopmental outcomes of the West syndrome in pediatric patients: The first report from the Middle-East. ( 30974259 )
2019
12
Proposition of a Minimal Effective Dose of Vigabatrin for the Treatment of Infantile Spasms Using Pediatric and Adult Pharmacokinetic Data. ( 30192381 )
2019
13
A Serendipitous Case for Shorter Steroid Course in Infantile Spasms. ( 30424958 )
2019
14
Efficacy and tolerability of the ketogenic diet versus high-dose adrenocorticotropic hormone for infantile spasms: A single-center parallel-cohort randomized controlled trial. ( 30801699 )
2019
15
Developmental profile at initial presentation in children with infantile spasms. ( 30854631 )
2019
16
Clobazam as an adjunctive treatment for infantile spasms. ( 31059922 )
2019
17
Infantile Spasms of Unknown Cause: Who Can Have a Good Outcome? ( 31062601 )
2019
18
Congenital Zika Syndrome and Infantile Spasms: Case Series Study. ( 29897010 )
2018
19
Kcnj6(GIRK2) trisomy is not sufficient for conferring the susceptibility to infantile spasms seen in the Ts65Dn mouse model of down syndrome. ( 29929098 )
2018
20
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations. ( 30361190 )
2018
21
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. ( 29791932 )
2018
22
De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms. ( 29687029 )
2018
23
Infantile Tuberculous Meningitis Complicated by West Syndrome. ( 30090146 )
2018
24
Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy. ( 30348860 )
2018
25
High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. ( 30296632 )
2018
26
Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study. ( 30098008 )
2018
27
Vitamin B12 Deficiency in Children With Infantile Spasms: A Case-Control Study. ( 30032694 )
2018
28
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. ( 28386848 )
2018
29
West Syndrome: A Review and Guide for Paediatricians. ( 29086890 )
2018
30
Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study. ( 29315514 )
2018
31
Review of West Syndrome: Concerns on Optimum Dose of Adrenocorticotrophic Hormone. ( 29556856 )
2018
32
Novel West syndrome candidate genes in a Chinese cohort. ( 29667327 )
2018
33
Serial Analysis of Multiple Serum Cytokine Responses to Adrenocorticotropic Hormone Therapy in Patients With West Syndrome. ( 29724126 )
2018
34
Early Seizure Freedom Is a Prognostic Factor for Survival in Patients with West Syndrome. ( 29783274 )
2018
35
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
36
Metabolic etiologies in West syndrome. ( 29881795 )
2018
37
Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome. ( 29905153 )
2018
38
Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. ( 29929112 )
2018
39
Vigabatrin and high-dose prednisolone therapy for patients with West syndrome. ( 29966811 )
2018
40
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. ( 30041933 )
2018
41
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. ( 30078785 )
2018
42
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. ( 30089820 )
2018
43
Longitudinal Findings of MRI and PET in West Syndrome with Subtle Focal Cortical Dysplasia. ( 30213810 )
2018
44
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. ( 30256902 )
2018
45
Surgical and developmental outcomes of corpus callosotomy for West syndrome in patients without MRI lesions. ( 30395353 )
2018
46
PLCB1 Biallelic Point Mutations Cause West Syndrome. ( 30554916 )
2018
47
Hypothalamic Hamartoma With Infantile Spasms: Case Report With Surgical Treatment. ( 29961499 )
2018
48
Editorial Comment: Case #26 Hypothalamic Hamartoma and Infantile Spasms. ( 29961500 )
2018
49
ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms. ( 29636502 )
2018
50
Utilizing Animal Models of Infantile Spasms. ( 29670486 )
2018
Sources

Variations for West Syndrome

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ClinVar genetic disease variations for West Syndrome:

6 (show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh37 Chromosome 16, 2135324: 2135324
2 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh38 Chromosome 16, 2085323: 2085323
3 SCN1A NM_006920.5(SCN1A): c.4801G> A (p.Val1601Ile) single nucleotide variant Likely benign rs121918808 GRCh37 Chromosome 2, 166850674: 166850674
4 SCN1A NM_006920.5(SCN1A): c.4801G> A (p.Val1601Ile) single nucleotide variant Likely benign rs121918808 GRCh38 Chromosome 2, 165994164: 165994164
5 SCN1A NM_006920.4(SCN1A): c.5837A> G (p.Glu1946Gly) single nucleotide variant Uncertain significance rs121918802 GRCh37 Chromosome 2, 166847915: 166847915
6 SCN1A NM_006920.4(SCN1A): c.5837A> G (p.Glu1946Gly) single nucleotide variant Uncertain significance rs121918802 GRCh38 Chromosome 2, 165991405: 165991405
7 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh37 Chromosome X, 18671566: 18671566
8 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh38 Chromosome X, 18653446: 18653446
9 CDKL5 NM_003159.2(CDKL5): c.99+1G> T single nucleotide variant Likely pathogenic rs267608421 GRCh38 Chromosome X, 18510855: 18510855
10 CDKL5 NM_003159.2(CDKL5): c.99+1G> T single nucleotide variant Likely pathogenic rs267608421 GRCh37 Chromosome X, 18528975: 18528975
11 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
12 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh38 Chromosome 9, 127661140: 127661140
13 PTEN NM_000314.7(PTEN): c.203A> G (p.Tyr68Cys) single nucleotide variant Pathogenic rs876660634 GRCh37 Chromosome 10, 89685308: 89685308
14 PTEN NM_000314.7(PTEN): c.203A> G (p.Tyr68Cys) single nucleotide variant Pathogenic rs876660634 GRCh38 Chromosome 10, 87925551: 87925551
15 KDM2B NM_032590.4(KDM2B): c.3050G> A (p.Arg1017His) single nucleotide variant Likely pathogenic rs782304760 GRCh37 Chromosome 12, 121880194: 121880194
16 KDM2B NM_032590.4(KDM2B): c.3050G> A (p.Arg1017His) single nucleotide variant Likely pathogenic rs782304760 GRCh38 Chromosome 12, 121442391: 121442391
17 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh37 Chromosome 19, 6213798: 6213798
18 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh38 Chromosome 19, 6213787: 6213787
19 46;X;t(X;9)(p22.2;p13)dn Translocation Uncertain significance
20 46;X;t(X;8)(p22;p21)dn Translocation Pathogenic
21 PIK3AP1 NC_000010.11: g.(?_96640079)_(96645581_?)dup duplication Uncertain significance GRCh38 Chromosome 10, 96640079: 96645581
22 PIK3AP1 NC_000010.11: g.(?_96640079)_(96645581_?)dup duplication Uncertain significance GRCh37 Chromosome 10, 98399836: 98405338
23 PIK3AP1 NM_152309.2(PIK3AP1): c.2337G> A (p.Val779=) single nucleotide variant Benign rs145459703 GRCh37 Chromosome 10, 98362060: 98362060
24 PIK3AP1 NM_152309.2(PIK3AP1): c.2337G> A (p.Val779=) single nucleotide variant Benign rs145459703 GRCh38 Chromosome 10, 96602303: 96602303
25 PIK3AP1 NM_152309.2(PIK3AP1): c.2294T> C (p.Val765Ala) single nucleotide variant Uncertain significance rs1164907557 GRCh37 Chromosome 10, 98362103: 98362103
26 PIK3AP1 NM_152309.2(PIK3AP1): c.2294T> C (p.Val765Ala) single nucleotide variant Uncertain significance rs1164907557 GRCh38 Chromosome 10, 96602346: 96602346
27 PIK3AP1 NM_152309.2(PIK3AP1): c.2251G> T (p.Val751Phe) single nucleotide variant Likely benign rs147376017 GRCh37 Chromosome 10, 98362146: 98362146
28 PIK3AP1 NM_152309.2(PIK3AP1): c.2251G> T (p.Val751Phe) single nucleotide variant Likely benign rs147376017 GRCh38 Chromosome 10, 96602389: 96602389
29 PIK3AP1 NM_152309.2(PIK3AP1): c.2076A> G (p.Gly692=) single nucleotide variant Benign rs141067860 GRCh37 Chromosome 10, 98369563: 98369563
30 PIK3AP1 NM_152309.2(PIK3AP1): c.2076A> G (p.Gly692=) single nucleotide variant Benign rs141067860 GRCh38 Chromosome 10, 96609806: 96609806
31 PIK3AP1 NM_152309.2(PIK3AP1): c.1506T> C (p.Asp502=) single nucleotide variant Benign rs74496843 GRCh37 Chromosome 10, 98386628: 98386628
32 PIK3AP1 NM_152309.2(PIK3AP1): c.1506T> C (p.Asp502=) single nucleotide variant Benign rs74496843 GRCh38 Chromosome 10, 96626871: 96626871
33 PIK3AP1 NM_152309.2(PIK3AP1): c.861T> C (p.Phe287=) single nucleotide variant Benign rs138990701 GRCh37 Chromosome 10, 98411132: 98411132
34 PIK3AP1 NM_152309.2(PIK3AP1): c.861T> C (p.Phe287=) single nucleotide variant Benign rs138990701 GRCh38 Chromosome 10, 96651375: 96651375
35 PIK3AP1 NM_152309.2(PIK3AP1): c.828C> T (p.Ala276=) single nucleotide variant Benign rs35668691 GRCh37 Chromosome 10, 98411293: 98411293
36 PIK3AP1 NM_152309.2(PIK3AP1): c.828C> T (p.Ala276=) single nucleotide variant Benign rs35668691 GRCh38 Chromosome 10, 96651536: 96651536
37 PIK3AP1 NM_152309.2(PIK3AP1): c.767G> A (p.Cys256Tyr) single nucleotide variant Benign rs141221035 GRCh37 Chromosome 10, 98411354: 98411354
38 PIK3AP1 NM_152309.2(PIK3AP1): c.767G> A (p.Cys256Tyr) single nucleotide variant Benign rs141221035 GRCh38 Chromosome 10, 96651597: 96651597
39 PIK3AP1 NM_152309.2(PIK3AP1): c.113G> T (p.Arg38Leu) single nucleotide variant Uncertain significance rs770855063 GRCh37 Chromosome 10, 98469641: 98469641
40 PIK3AP1 NM_152309.2(PIK3AP1): c.113G> T (p.Arg38Leu) single nucleotide variant Uncertain significance rs770855063 GRCh38 Chromosome 10, 96709884: 96709884
41 PIK3AP1 NM_152309.2(PIK3AP1): c.20C> T (p.Pro7Leu) single nucleotide variant Benign rs73334383 GRCh37 Chromosome 10, 98469734: 98469734
42 PIK3AP1 NM_152309.2(PIK3AP1): c.20C> T (p.Pro7Leu) single nucleotide variant Benign rs73334383 GRCh38 Chromosome 10, 96709977: 96709977
43 PIK3AP1 NM_152309.2(PIK3AP1): c.2171-7C> T single nucleotide variant Benign rs111902593 GRCh37 Chromosome 10, 98363813: 98363813
44 PIK3AP1 NM_152309.2(PIK3AP1): c.2171-7C> T single nucleotide variant Benign rs111902593 GRCh38 Chromosome 10, 96604056: 96604056
45 PIK3AP1 NM_152309.2(PIK3AP1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs117500254 GRCh37 Chromosome 10, 98416651: 98416651
46 PIK3AP1 NM_152309.2(PIK3AP1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs117500254 GRCh38 Chromosome 10, 96656894: 96656894
47 PIK3AP1 NM_152309.2(PIK3AP1): c.153C> T (p.Ala51=) single nucleotide variant Likely benign rs1554963337 GRCh38 Chromosome 10, 96709844: 96709844
48 PIK3AP1 NM_152309.2(PIK3AP1): c.2379C> T (p.Thr793=) single nucleotide variant Benign rs201824606 GRCh37 Chromosome 10, 98355373: 98355373
49 PIK3AP1 NM_152309.2(PIK3AP1): c.2379C> T (p.Thr793=) single nucleotide variant Benign rs201824606 GRCh38 Chromosome 10, 96595616: 96595616
50 PIK3AP1 NM_152309.2(PIK3AP1): c.1495C> T (p.Leu499=) single nucleotide variant Likely benign rs199720844 GRCh37 Chromosome 10, 98386639: 98386639

Copy number variations for West Syndrome from CNVD:

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

Expression for West Syndrome

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

Pathways for West Syndrome

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Pathways related to West Syndrome according to KEGG:

38
# 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
Neuroscience 4
11.63 GRIN2B MECP2 NTRK2 POMC SCN2A STXBP1
2
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
11.42 CDKL5 GRIN2B NTRK2 TSC2
3
Glioblastoma Multiforme 65
11.38 PLCB1 PTEN TSC2
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 glutamatergic synapse GO:0098978 9.26 CDKL5 PLCB1 SCN2A STXBP1
2 postsynapse GO:0098794 8.8 MECP2 PLCB1 STXBP1

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

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.65 ARX CDKL5 NTRK2
2 long-term synaptic depression GO:0060292 9.46 PTEN STXBP1
3 glutamate receptor signaling pathway GO:0007215 9.43 GRIN2B PLCB1
4 memory GO:0007613 9.43 MECP2 PLCB1 PTEN
5 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 PTEN TSC2
6 preassembly of GPI anchor in ER membrane GO:0016254 9.37 PIGA PIGW
7 insulin-like growth factor receptor signaling pathway GO:0048009 9.32 PLCB1 TSC2
8 regulation of cell cycle GO:0051726 9.26 CDKL5 PLCB1 PTEN TSC2
9 multicellular organismal response to stress GO:0033555 9.16 MECP2 PTEN
10 long-term synaptic potentiation GO:0060291 8.92 GRIN2B MECP2 NTRK2 PTEN
Sources

Sources for West Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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