MCID: WST001
MIFTS: 61

West Syndrome malady

Rare diseases, Neuronal diseases categories

Summaries for West Syndrome

About this section


NINDS:44 An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.

MalaCards based summary: West Syndrome, also known as infantile spasms, is related to aicardi syndrome and ohtahara syndrome. An important gene associated with West Syndrome is ARX (aristaless related homeobox), and among its related pathways are Interaction between L1 and Ankyrins and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. The drug topiramate and the compounds topiramate and loperamide have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and temporal lobe, and related mouse phenotypes are craniofacial and homeostasis/metabolism.

Genetics Home Reference:23 X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives.

NIH Rare Diseases:43 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 underlying disorders, such as birth injury, 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. last updated: 3/28/2011

Aliases & Classifications for West Syndrome

About this section
Sources:
33MalaCards, 10Disease Ontology, 43NIH Rare Diseases, 23Genetics Home Reference, 44NINDS, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

West Syndrome, Aliases & Descriptions:

Name: West Syndrome 33 10 43 44 49
Infantile Spasms 43 44 45 49 62
Infantile Epileptic-Dyskinetic Encephalopathy 23 49 62
X-Linked Infantile Spasm Syndrome 43 23 62
Intellectual Disability - Hypsarrhythmia 43 49
Early Infantile Epileptic Encephalopathy 23 62
X-Linked Infantile Spasms 43 62
 
X-Linked West Syndrome 23 62
Infantile Spasm 43 62
West's Syndrome 43 24
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 43
Epileptic Encephalopathy, Early Infantile, 1 33
Issx 23
is 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
infantile spasms:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal
infantile epileptic-dyskinetic encephalopathy:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0050562
Orphanet49 3451, 364063
ICD10 via Orphanet28 G40.4
UMLS via Orphanet63 C0037769

Related Diseases for West Syndrome

About this section

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1aicardi syndrome30.7CDKL5, FLNA
2ohtahara syndrome30.3STXBP1
3early myoclonic encephalopathy30.2STXBP1
4lissencephaly30.1ARX, FLNA
5hydranencephaly30.1STXBP1
6rett syndrome30.0CDKL5, FOXG1
7epilepsy syndrome29.9ARX, CDKL5, GRIN2B, FLNA, TPH1
8microcephaly29.9CDKL5, PHGDH, FOXG1
9mental retardation29.9TPH1, FLNA, CDKL5, ARX
10malignant migrating partial seizures of infancy10.5
11early infantile epileptic encephalopathy without suppression burst10.5
12cerebritis10.4
13infantile epileptic encephalopathy10.3
14agenesis of the corpus callosum10.3
15infantile spasms broad thumbs10.3
16epileptic encephalopathy, early infantile, 310.3
17microcephaly, seizures, and developmental delay10.3
18epileptic encephalopathy, early infantile, 2610.3
19dravet syndrome10.3
20myoclonus10.3
21lennox-gastaut syndrome10.3
22encephalitis10.2
23polymicrogyria10.2
24pachygyria10.2
25tuberous sclerosis10.2
26periventricular leukomalacia10.2
27leukomalacia10.2
28porencephaly10.2
29biotinidase deficiency10.2
30choroiditis10.2
31weber syndrome10.2
32neuronitis10.1
33down syndrome10.1
34vitamin b12 deficiency10.1
35schinzel giedion syndrome10.1
36blindness10.1
37major depressive disorder and accelerated response to antidepressant drug treatment10.0TPH1
38neuroendocrine tumor10.0POMC
39addison's disease10.0POMC, TPH1
40borderline personality disorder10.0TPH1, FLNA
41panic disorder10.0TPH1, POMC
42mood disorder10.0TPH1, POMC, PLCB1
43chromosome 1p36 deletion syndrome10.0
44d-bifunctional protein deficiency10.0
45pallister-hall syndrome10.0
46retinoblastoma10.0
47miller-dieker lissencephaly syndrome10.0
48alexander disease10.0
49norrie disease10.0
50menkes disease10.0

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



Diseases related to west syndrome

Symptoms for West Syndrome

About this section

Drugs & Therapeutics for West Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for West Syndrome

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for West Syndrome

About this section

Genetic tests related to West Syndrome:

id Genetic test Affiliating Genes
1 West Syndrome24

Anatomical Context for West Syndrome

About this section

MalaCards organs/tissues related to West Syndrome:

33
Brain, Testes, Temporal lobe, Heart, Eye, Cortex, T cells

Animal Models for West Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to West Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.0PHGDH, FOXG1, FLNA, PIGA, SPTAN1
2MP:00053767.4PHGDH, POMC, FLNA, FOXG1, GRIN2B, ARX
3MP:00053786.4SPTAN1, ARX, PHGDH, PLCB1, FOXG1, FLNA
4MP:00053866.3POMC, PIGA, CDKL5, FLNA, STXBP1, FOXG1
5MP:00107686.0PHGDH, SPTAN1, PIGA, FLNA, POMC, STXBP1
6MP:00036315.9FOXG1, CDKL5, PHGDH, GRIN2B, PLCB1, STXBP1

Publications for West Syndrome

About this section

Articles related to West Syndrome:

(show top 50)    (show all 349)
idTitleAuthorsYear
1
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. (25877686)
2015
2
Heart rate variability in infants with West syndrome. (25891921)
2015
3
Temporal lobe impairment in West syndrome: Event-related potential evidence. (25363285)
2014
4
The efficacy of moderate-to-high dose oral prednisolone versus low-to-moderate dose intramuscular corticotropin for improvement of hypsarrhythmia in West syndrome: a randomized, single-blind, parallel clinical trial. (24938136)
2014
5
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome. (24939523)
2014
6
Successful treatment for West syndrome with severe combined immunodeficiency. (24534054)
2014
7
Ketosis and EEG improvement following viral gastroenteritis in patient with West syndrome. (24479997)
2014
8
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. (24105702)
2013
9
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? (23705971)
2013
10
Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures. (22425652)
2012
11
Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. (21470806)
2012
12
Treatment of preterm infants with West syndrome: differences due to etiology. (22882769)
2012
13
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
14
Case report: Blue chromogenic dental staining in child with West syndrome. (21108922)
2010
15
Utility of subtraction ictal SPECT images in detecting focal leading activity and understanding the pathophysiology of spasms in patients with West syndrome. (19101121)
2009
16
Zonisamide in West syndrome: an open label study. (20045779)
2009
17
Drug-choice in management of West syndrome (infantile spasms): Early ACTH treatment may offer a better prognostic outcome. (17590279)
2008
18
Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation. (18564498)
2008
19
Delayed myelination at the onset of cryptogenic West syndrome. (18021923)
2007
20
A case of Pallister-Killian syndrome associated with West syndrome. (17765815)
2007
21
Update of the medical treatment of West syndrome. (17519870)
2007
22
A new paradigm for West syndrome based on molecular and cell biology. (16806828)
2006
23
A plausible explanation for superiority of adreno-cortico-trophic hormone (ACTH) over oral corticosteroids in management of infantile spasms (West syndrome). (16781824)
2006
24
Popliteal angle in infants with west syndrome. (17005110)
2006
25
Short-duration ACTH therapy for cryptogenic West syndrome with better outcome. (17138011)
2006
26
Dynamic cortical activity during spasms in three patients with West syndrome: a multichannel near-infrared spectroscopic topography study. (15461679)
2004
27
Long-term response to zonisamide in patients with West syndrome. (12034801)
2002
28
West syndrome--new therapeutic approach]. (15637997)
2001
29
Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia. (11701263)
2001
30
Epidemiological and clinical studies of West syndrome in Nagasaki Prefecture, Japan. (11701258)
2001
31
Epidemiology of West syndrome in Singapore. (11701260)
2001
32
Spontaneous remission of spasms in West syndrome--implications of viral infection. (11701282)
2001
33
Long-term prognosis of patients with West syndrome in Japan: medical aspects. (11701279)
2001
34
West & son: the origins of West syndrome. (11701237)
2001
35
Long-term follow-up study of West syndrome associated with tuberous sclerosis. (11701281)
2001
36
Subdural hematoma during low-dose ACTH therapy in patients with west syndrome. (10881271)
2000
37
How should patients with porencephaly and generalized seizures such as West syndrome be treated? (10598061)
1999
38
Cerebrospinal fluid somatostatin in West syndrome: changes in response to combined treatment with high-dose pyridoxal phosphate and low-dose corticotropin. (9920458)
1998
39
Evolutional changes and outcome of West syndrome: correlation with magnetic resonance imaging findings. (9737445)
1998
40
West syndrome and its related epileptic syndromes. (9737442)
1998
41
Antiepileptic drug treatment of West syndrome. (9737443)
1998
42
Liposteroid (dexamethasone palmitate) therapy for West syndrome: a comparative study with ACTH therapy. (9650682)
1998
43
West syndrome: cerebrospinal fluid nerve growth factor and effect of ACTH. (9390698)
1997
44
CSF ACTH and beta-endorphin in infants with West syndrome and ACTH therapy. (9253486)
1997
45
Seizures-in-series observed in symptomatic generalized epilepsy other than West syndrome. (8612183)
1995
46
A simple, effective and well-tolerated treatment regime for West syndrome. (7926318)
1994
47
Delayed myelination in children with West syndrome: an MRI-study. (7969793)
1994
48
Asymmetric hypsarrhythmia and infantile spasms in west syndrome. (7930409)
1994
49
Cholinergic system disturbance in the West syndrome. (2092590)
1990
50
West syndrome evolving into the Lennox-Gastaut syndrome. (6697547)
1984

Variations for West Syndrome

About this section

Clinvar genetic disease variations for West Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1ARXNM_139058.2(ARX)NT expansionPathogenicGRCh37Chr X, 25031779: 25031808
2ARXNM_139058.2(ARX)duplicationPathogenicrs387906493GRCh37Chr X, 25031660: 25031661
3ARXNM_139058.2(ARX): c.1058C> T (p.Pro353Leu)single nucleotide variantPathogenicrs104894743GRCh37Chr X, 25031054: 25031054
4ARXARX, 1,517-BP DELdeletionPathogenic
5ARXARX, 33-BP DUPduplicationPathogenic
6ARXARX, 1-BP DEL, 1465GdeletionPathogenic
7ARXNM_139058.2(ARX)duplicationPathogenicGRCh37Chr X, 25031651: 25031677
8ARXNM_139058.2(ARX): c.81C> G (p.Tyr27Ter)single nucleotide variantPathogenicrs398122854GRCh37Chr X, 25033774: 25033774
9ARXNM_139058.2(ARX): c.1604T> A (p.Leu535Gln)single nucleotide variantPathogenicrs387906715GRCh37Chr X, 25022872: 25022872
10ST3GAL3ST3GAL3, ALA320PROsingle nucleotide variantPathogenic

Expression for genes affiliated with West Syndrome

About this section

Search GEO for disease gene expression data for West Syndrome.

Pathways for genes affiliated with West Syndrome

About this section

Compounds for genes affiliated with West Syndrome

About this section

Compounds related to West Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1topiramate45 51 26 1312.8POMC, SCN2A
2loperamide45 26 1311.7POMC, GRIN2B
3maoa459.7POMC, TPH1
4fenfluramine45 30 1311.4TPH1, POMC
5gaba459.3ARX, POMC, TPH1
6metyrapone45 61 1311.2POMC, TPH1
7dopamine45 30 26 1311.8TPH1, POMC, FLNA, GRIN2B
8glutamate458.3GRIN2B, PLCB1, STXBP1, TPH1, SPTAN1
9serine458.1SPTAN1, POMC, FLNA, PLCB1, GRIN2B, PHGDH

GO Terms for genes affiliated with West Syndrome

About this section

Biological processes related to West Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutamate receptor signaling pathwayGO:00072159.5GRIN2B, PLCB1
2small molecule metabolic processGO:00442817.9PHGDH, PLCB1, ST3GAL3, STXBP1, TPH1

Molecular functions related to West Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:00483659.7CDKL5, FLNA

Products for genes affiliated with West Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for West Syndrome

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet