Aliases & Classifications for West Syndrome

MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 39 12 50 51 56 29 14 69
X-Linked Infantile Spasm Syndrome 50 25 69
Epileptic Encephalopathy, Early Infantile, 1 39 69
Infantile Spasm 50 69
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 50
Intellectual Disability-Hypsarrhythmia Syndrome 56
Infantile Epileptic-Dyskinetic Encephalopathy 25
Early Infantile Epileptic Encephalopathy 25
X-Linked Infantile Spasms 50
X-Linked West Syndrome 25
Infantile Spasms 56
West's Syndrome 50
Issx 25
is 50

Characteristics:

Orphanet epidemiological data:

56
west syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
Orphanet 56 ORPHA3451
UMLS via Orphanet 70 C0037769
ICD10 via Orphanet 34 G40.4

Summaries for West Syndrome

NIH Rare Diseases : 50 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. last updated: 6/9/2017

MalaCards based summary : West Syndrome, also known as x-linked infantile spasm syndrome, is related to epileptic encephalopathy, early infantile, 15 and early infantile epileptic encephalopathy without suppression burst, and has symptoms including dyspnea, muscle spasticity and seizures. An important gene associated with West Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are G-Beta Gamma Signaling and Circadian entrainment. The drugs Iloprost and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are behavior/neurological and growth/size/body region

Genetics Home Reference : 25 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.

NINDS : 51 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.

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 95)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 29.8 ARX CACNA2D2 CDKL5 GNAO1 KCNQ2 PIGA
2 early infantile epileptic encephalopathy without suppression burst 12.1
3 infantile spasms broad thumbs 11.9
4 epileptic encephalopathy, early infantile, 1 11.5
5 infantile epileptic encephalopathy 11.2
6 x-linked lissencephaly with abnormal genitalia 11.0
7 early myoclonic encephalopathy 11.0
8 syndromic x-linked intellectual disability 10.8 GRIN2B SCN2A STXBP1
9 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 10.8
10 epileptic encephalopathy, early infantile, 13 10.7
11 cdkl5-related disorder 10.7
12 epileptic encephalopathy, early infantile, 12 10.7
13 scn2a related disorders 10.7
14 epileptic encephalopathy, early infantile, 11 10.7
15 myoglobinuria dominant form 10.7 GRIN2B SCN1A
16 reflex epilepsy 10.6 POMC TBC1D24
17 microphthalmia, syndromic 2 10.6 ARX SCN2A
18 gingival disease 10.6 KCNQ2 SCN2A TBC1D24
19 childhood malignant schwannoma 10.6 SCN1A SCN2A TBC1D24
20 early onset absence epilepsy 10.6 KCNQ2 POMC TBC1D24
21 man1b1-cdg 10.6 PLCB1 SCN1A SCN2A TBC1D24
22 spinocerebellar degeneration 10.6 CDKL5 KCNQ2 SCN1A SCN2A
23 spastic paraplegia 2, x-linked 10.6 CDKL5 KCNQ2 SCN1A
24 epilepsy, generalized, with febrile seizures plus, type 5 10.5 SCN1A SCN2A TBC1D24
25 gingival overgrowth 10.5 ARX CDKL5 SCN1A SIK1
26 mental retardation, x-linked 29 and others 10.4 ARX KCNQ2 TBC1D24 WWOX
27 gaba aminotransferase deficiency 10.4 KCNQ2 SCN1A SCN2A TBC1D24
28 fainting 10.4 ARX CDKL5 GNAO1 SCN1A SCN2A STXBP1
29 bone cancer 10.3 KCNQ2 SCN1A SCN2A
30 autosomal dominant nonsyndromic deafness 10.3 KCNQ2 POMC SCN1A ST3GAL3 TBC1D24
31 sexual disorder 10.3 GRIN2B SCN1A SCN2A TSC2
32 childhood electroclinical syndrome 10.3 ARX KCNQ2 SCN1A SCN2A STXBP1 TBC1D24
33 erythermalgia, primary 10.3 CDKL5 KCNQ2 SCN1A SCN2A STXBP1 TBC1D24
34 spondylosis 10.3 CDKL5 GRIN2B SCN1A TBC1D24 TSC2
35 suppurative cholangitis 10.3 KCNQ2 SCN2A
36 sensory peripheral neuropathy 10.2 ARX CACNA2D2 CDKL5 POMC SCN1A STXBP1
37 adolescence-adult electroclinical syndrome 10.2 ARX CDKL5 KCNQ2 POMC SCN1A SCN2A
38 mononeuritis multiplex 10.1 ARX KCNQ2 SCN1A TBC1D24
39 epilepsy 10.0
40 encephalopathy 9.9
41 iqsec2 9.9
42 cerebritis 9.9
43 lennox-gastaut syndrome 9.7
44 tuberous sclerosis 9.7
45 leukomalacia 9.7
46 periventricular leukomalacia 9.7
47 vitamin b12 deficiency 9.6
48 porencephaly 9.6
49 intellectual disability 9.6
50 lissencephaly 9.5

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



Diseases related to West Syndrome

Symptoms & Phenotypes for West Syndrome

UMLS symptoms related to West Syndrome:


dyspnea, muscle spasticity, seizures

MGI Mouse Phenotypes related to West Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ARX CACNA2D2 CDKL5 GNAO1 GRIN2B KCNQ2
2 growth/size/body region MP:0005378 10.07 GNAO1 GRIN2B KCNQ2 PIGA PLCB1 POMC
3 mortality/aging MP:0010768 10 ARX CACNA2D2 GNAO1 GRIN2B KCNQ2 PIGA
4 nervous system MP:0003631 9.83 CACNA2D2 CDKL5 GNAO1 GRIN2B KCNQ2 PIGA
5 reproductive system MP:0005389 9.28 ARX KCNQ2 PIGA PLCB1 SCN1A TSC2

Drugs & Therapeutics for West Syndrome

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

(show top 50) (show all 683)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
2
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
3
rituximab Approved Phase 4,Phase 3,Phase 2 174722-31-7 10201696
4
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
5
Vigabatrin Approved Phase 4,Phase 3 68506-86-5, 60643-86-9 5665
6
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
7
Norepinephrine Approved Phase 4,Phase 2,Phase 3 51-41-2 439260
8
Fenofibrate Approved Phase 4 49562-28-9 3339
9
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
10
Pravastatin Approved Phase 4 81093-37-0 54687
11
Lopinavir Approved Phase 4,Phase 1 192725-17-0 92727
12
Rifampin Approved Phase 4 13292-46-1 5458213 5381226
13
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
14 Magnesium citrate Approved Phase 4
15
Magnesium oxide Approved Phase 4,Phase 2 1309-48-4 14792
16
Armodafinil Approved, Investigational Phase 4,Phase 3 112111-43-0
17
Modafinil Approved, Investigational Phase 4,Phase 3 68693-11-8 4236
18
Rasburicase Approved, Investigational Phase 4,Phase 3 134774-45-1
19
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
20
Protein C Approved Phase 4
21
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
22
Tacrolimus Approved, Investigational Phase 4,Phase 3 104987-11-3 445643 439492
23
Ethanol Approved Phase 4,Phase 3 64-17-5 702
24
Valproic Acid Approved, Investigational Phase 4,Phase 2 99-66-1 3121
25
Ticagrelor Approved Phase 4,Phase 3,Phase 2 274693-27-5 9871419
26
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
27
Acetylcholine Approved Phase 4 51-84-3 187
28
Lorazepam Approved Phase 4 846-49-1 3958
29
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
30
Eluxadoline Approved Phase 4 864821-90-9
31
Loperamide Approved Phase 4 53179-11-6 3955
32
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
33
Liraglutide Approved Phase 4 204656-20-2 44147092
34
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
35
Chlorthalidone Approved Phase 4 77-36-1 2732
36
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
37
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
38
Desirudin Approved Phase 4 120993-53-5
39
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
40
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 50-14-6 5280793
41
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 1406-16-2
42
Ginseng Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 50647-08-0
43
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
44
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
45
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
46
Levulinic acid Experimental Phase 4 123-76-2 11579
47 Ebastine Investigational Phase 4 90729-43-4
48 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
49 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1
50 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 674)

id Name Status NCT ID Phase Drugs
1 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4 probiotic (bacterial/dietary supplement)
2 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
3 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
4 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4 Danhong Injection;Normal Saline
5 A Randomized Cross Over Trial of Two Treatments for Obstructive Sleep Apnea in Veterans With Post Traumatic Stress Disorder Unknown status NCT01535586 Phase 4
6 An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder Completed NCT00961298 Phase 4 Duloxetine
7 The Effects of Fish Oils on Blood Pressure, Heart Rate Variability and Liver Fat in the Polycystic Ovary Syndrome Completed NCT00620529 Phase 4
8 Regulation of Lipoprotein Transport in Metabolic Syndrome Completed NCT00841217 Phase 4 GW501516;placebo pill
9 Pharmacological Regulation of Fat Transport in Metabolic Syndrome Completed NCT00632840 Phase 4 Atorvastatin and fenofibrate
10 Assessment of Biomarkers and Cardiorenal Syndrome in Acute Decompensated Heart Failure With Vasodilator Therapy Completed NCT00842023 Phase 4 Nesiritide;Nitroglycerin
11 Conservative Non-Invasive Versus Routine Invasive Management in Coronary Artery Bypass Surgery Patients With Non ST Elevation Elevation Acute Coronary Syndrome Completed NCT01895751 Phase 4
12 Studies of Traditional Chinese Medicine Clinical Efficacy Evaluation Index Completed NCT01502943 Phase 4 Louxiangdan Tongxin granules;TCM granules placebo;Chixiangshen Tongxin granules;TCM granule placebo plus western basis treatment;Western basis treatment
13 Trial of Chinese Herbal Medicine in the Treatment of Upper Respiratory Tract Infections (URTIs) Completed NCT00887172 Phase 4 Jing Fang Bai Du san;Placebo;Ying Qiao san
14 Effect of Vitamin D Supplementation on Fasting Glucose and Interleukin-10 (IL-10) in Arab Women With Impaired Fasting Glucose Completed NCT00877123 Phase 4 Oral vitamin D 100,000 IU;Placebo
15 Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB Completed NCT02348177 Phase 4 lopinavir with ritonavir in 1:1 ratio;Lopinavir/ritonavir 4:1
16 The Absorption of Magnesium Oxide Compared to Citrate in Healthy Subjects Completed NCT00994006 Phase 4
17 Spinal Cord Stimulation for Predominant Low Back Pain Completed NCT01697358 Phase 4 Optimal Medical Management (OMM)
18 Efficacy and Safety of Armodafinil for Adults With Excessive Sleepiness Obstructive Sleep Apnea/Hypopnea and Depression Completed NCT00518986 Phase 4 armodafinil;placebo
19 Study of Rasburicase as Treatment or Prevention of Hyperuricemia Associated With Tumor Lysis Syndrome in Patients With Relapsed or Refractory Lymphoma, Leukemia, or Solid Tumor Malignancy Completed NCT00230217 Phase 4 Rasburicase (SR29142)
20 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4 Pramipexole
21 The Study of Drotrecogin Alfa (Activated) in a Subpopulation of Adult Patients With Severe Sepsis Completed NCT00045760 Phase 4 Drotrecogin alfa (activated)
22 Phase IV Trial With Pramipexole to Evaluate Safety and Efficacy in Patients With RLS Associated With Mood Disturbances Completed NCT00356096 Phase 4 pramipexole
23 Acarbose Cardiovascular Evaluation Trial Completed NCT00829660 Phase 4 Acarbose;Matching Placebo
24 Efficacy and Safety of Qizhitongluo Capsule in the Recovery Phase of Ischemic Stroke Completed NCT01762163 Phase 4 Qizhitongluo Capsule;Naoxintong Capsule;Aspirin Enteric-coated Tablets;placebo
25 Evaluation of Neuroinflammation in Children With Infantile Spasms Recruiting NCT02092883 Phase 4 ACTH
26 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
27 Assessment of Valproate on Ethanol Withdrawal Recruiting NCT03235531 Phase 4 Valproate;Lorazepam
28 Oxygen Versus PAP for Sleep Apnea in Heart Failure Recruiting NCT01807897 Phase 4
29 Interstitial Cystitis: Examination of the Central Autonomic Network Recruiting NCT03008382 Phase 4 Metoprolol Oral Tablet;Placebo Oral Tablet
30 Evaluating the Effects of Traditional Chinese Medicine by N-of-1 Trials Recruiting NCT03147443 Phase 4 Individualized Decoction;placebo;Tested drug minus heat-clearing herbs
31 Efficacy of Eluxadoline in the Treatment of Irritable Bowel Syndrome With Diarrhea in Patients With Inadequate Control of Symptoms With Prior Loperamide Use Recruiting NCT02959983 Phase 4 Eluxadoline;Placebo
32 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
33 Effect of Liraglutide on Cardiovascular Endpoints in Diabetes Mellitus Type 2 Patients of South Asian Descent Recruiting NCT02660047 Phase 4 Liraglutide;Liraglutide - Placebo
34 Neurochemical, Metabonomics and Neuroimaging Characterization of TCM Diagnostic Subtypes of Major Depression Disorder Recruiting NCT02346682 Phase 4 venlafaxine
35 Peripheral Histamine 1 Receptor Blockade in IBS: Multicenter Trial Recruiting NCT01908465 Phase 4 Ebastine;Placebo
36 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Active, not recruiting NCT02502981 Phase 4 Spironolactone;Chlortalidone
37 MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study Active, not recruiting NCT03226119 Phase 4
38 Affordability and Real-world Antiplatelet Treatment Effectiveness After Myocardial Infarction Study Active, not recruiting NCT02406677 Phase 4
39 An Open-Label, Long-term Study to Assess the Immunogenicity of Linaclotide Administered Orally to Adult Patients With Irritable Bowel Syndrome With Constipation or Chronic Idiopathic Constipation Active, not recruiting NCT02590432 Phase 4 Linaclotide 290 micrograms;Linaclotide 145 micrograms;Linaclotide 72 micrograms
40 Research on the Clinical Effect of Effective Prescription in Treating Unstable Angina. Not yet recruiting NCT03171597 Phase 4 Anti-Platelet Drugs;Lipid Regulating Drugs;Coronary Vasodilator;Xuefu Zhuyu Decoction;Gualou Xiebai Banxia Decoction & Danshen Decoction;Shuanghe Decoction
41 Flexitouch Compression System for Venous Stasis Ulcer Terminated NCT00534937 Phase 4
42 A Comparative Sudy Comparing Argatroban® IV vs Desirudin SC for Suspected HIT With or Without Thrombosis Syndrome Terminated NCT00787332 Phase 4 Desirudin or Argatroban®
43 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
44 Transfusion Effects in Myelodysplastic Patients: Limiting Exposure Withdrawn NCT00202371 Phase 4
45 Addition of Pyridoxine to Prednisolone in Infantile Spasms Unknown status NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
46 Subacromial Decompression Versus Subacromial Bursectomy for Patients With Rotator Cuff Tendinosis Unknown status NCT00196573 Phase 3
47 Effect of Hypertonic Sodium Lactate on sVCAM-1 Level as Surrogate Marker of Endothelial Capillary Leakage in Pediatric Dengue Shock Syndrome Patients (DSS) Unknown status NCT00966628 Phase 3 Hypertonic sodium lactate;Ringer's lactate
48 Combined Western and Traditional Chinese Medicine Daycare for CKD Patients Unknown status NCT02545036 Phase 3
49 TB-IRIS NSAID Cox-2 Inhibitor Prevention Trial Unknown status NCT02060006 Phase 3 Meloxicam 7.5mg daily for 8 weeks
50 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for West Syndrome

Genetic tests related to West Syndrome:

id Genetic test Affiliating Genes
1 West Syndrome 29

Anatomical Context for West Syndrome

MalaCards organs/tissues related to West Syndrome:

39
Brain, Heart, Testes, Myeloid, Liver, Ovary, Eye

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 380)
id Title Authors Year
1
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state. ( 28780406 )
2017
2
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. ( 28386848 )
2017
3
Randomized, Single-Blind, Parallel Clinical Trial on Efficacy of Oral Prednisolone Versus Intramuscular Corticotropin: A 12-Month Assessment of Spasm Control in West Syndrome. ( 28927673 )
2017
4
West syndrome in three patients with brain injury and a benign course. ( 28794986 )
2017
5
Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. ( 28654857 )
2017
6
Spasm, Infantile (West Syndrome) ( 28846304 )
2017
7
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. ( 28864462 )
2017
8
DMD and West syndrome. ( 28802771 )
2017
9
Fast (40-150Hz) oscillations are associated with positive slow waves in the ictal EEGs of epileptic spasms in West syndrome. ( 27259671 )
2016
10
De novo GABRA1 mutations in Ohtahara and West syndromes. ( 26918889 )
2016
11
Intravenous immunoglobulin therapy is rarely effective as the initial treatment in West syndrome: A retrospective study of 70 patients. ( 27538618 )
2016
12
Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients. ( 27082650 )
2016
13
White Matter Abnormality Correlates with Developmental and Seizure Outcomes in West Syndrome of Unknown Etiology. ( 26585267 )
2016
14
ACTH therapy for West syndrome with severe hemophilia A. ( 27896066 )
2016
15
WDR45 mutations in three male patients with West syndrome. ( 27030146 )
2016
16
Evaluation of ten prognostic factors affecting the outcome of West syndrome. ( 26850102 )
2016
17
Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome. ( 27582501 )
2016
18
Wolf-Hirschhorn (4p-) syndrome with West syndrome. ( 27504263 )
2016
19
ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). ( 26810914 )
2016
20
Quinidine therapy for West syndrome with KCNTI mutation: A case report. ( 27578169 )
2016
21
Oral Prednisolone Versus Intramuscular Corticotropin in West Syndrome. ( 26857521 )
2016
22
Predictive factors for relapse of epileptic spasms after adrenocorticotropic hormone therapy in West syndrome. ( 26547521 )
2015
23
Relationship between initial electroencephalographic characteristics and seizure outcomes in children with non-lesional West syndrome. ( 25616455 )
2015
24
Quantitative magnetic resonance imaging evidence forA altered structural remodeling of the temporal lobe in West syndrome. ( 25802930 )
2015
25
The Clinical Characteristics and Treatment Response in Children with West Syndrome in a Developing Country: A Retrospective Case Record Analysis. ( 25713006 )
2015
26
West syndrome due to vitamin B12 deficiency. ( 26884697 )
2015
27
LAMA2-related congenital muscular dystrophy complicated by West syndrome. ( 25500573 )
2015
28
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. ( 25877686 )
2015
29
Severe early onset ethylmalonic encephalopathy with West syndrome. ( 26194623 )
2015
30
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. ( 26486472 )
2015
31
Investigations in West Syndrome: Which, When and Why. ( 26933581 )
2015
32
Heart rate variability in infants with West syndrome. ( 25891921 )
2015
33
De novo R853Q mutation of SCN2A gene and West syndrome. ( 25772804 )
2015
34
Randomized, Single-Blind, Parallel Clinical Trial on Efficacy of Oral Prednisolone Versus Intramuscular Corticotropin on Immediate and Continued Spasm Control in West Syndrome. ( 26216500 )
2015
35
Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report. ( 26482603 )
2015
36
Long-term outcomes in patients with West syndrome: an outpatient clinical study. ( 25645640 )
2015
37
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. ( 25779538 )
2015
38
Occurrence of bilaterally independent epileptic spasms after a corpus callosotomy in West syndrome. ( 25998967 )
2015
39
West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation. ( 25878738 )
2015
40
West Syndrome in a Patient With Schinzel-Giedion Syndrome. ( 25028416 )
2014
41
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
42
Brain connectivity in West syndrome. ( 24794162 )
2014
43
Successful treatment for West syndrome with severe combined immunodeficiency. ( 24534054 )
2014
44
Reduction in glutamine/glutamate levels in the cerebral cortex after adrenocorticotropic hormone therapy in patients with west syndrome. ( 24705707 )
2014
45
A storm of fast (40-150Hz) oscillations during hypsarrhythmia in West syndrome. ( 25363350 )
2014
46
Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation. ( 25092550 )
2014
47
Partial seizures during ACTH therapy in a cryptogenic West syndrome patient. ( 23352589 )
2014
48
Dyskinesia as a new adverse effect of hormonal treatment in West syndrome. ( 24556527 )
2014
49
Temporal lobe impairment in West syndrome: Event-related potential evidence. ( 25363285 )
2014
50
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome. ( 24939523 )
2014

Variations for West Syndrome

ClinVar genetic disease variations for West Syndrome:

6 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh37 Chromosome X, 25031779: 25031781
2 ARX NM_139058.2(ARX) duplication Pathogenic rs387906493 GRCh37 Chromosome X, 25031661: 25031684
3 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh37 Chromosome X, 25031054: 25031054
4 ARX ARX, 1,517-BP DEL deletion Pathogenic
5 ARX ARX, 33-BP DUP duplication Pathogenic
6 ARX ARX, 1-BP DEL, 1465G deletion Pathogenic
7 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
8 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh37 Chromosome 20, 62076109: 62076118
9 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh37 Chromosome X, 25031651: 25031677
10 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
11 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
12 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh37 Chromosome 16, 2135324: 2135324
13 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
14 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878
15 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
16 SCN1A NM_001165963.1(SCN1A): c.2792G> A (p.Arg931His) single nucleotide variant Pathogenic rs794726718 GRCh37 Chromosome 2, 166894440: 166894440
17 ARX NM_139058.2(ARX): c.30C> A (p.Cys10Ter) single nucleotide variant Pathogenic rs794726959 GRCh37 Chromosome X, 25033825: 25033825
18 SCN1A NM_001165963.1(SCN1A): c.3724_3725dupAT (p.Asp1243Leufs) duplication Pathogenic rs796053072 GRCh37 Chromosome 2, 166868773: 166868774
19 STXBP1 NM_003165.3(STXBP1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs796053366 GRCh37 Chromosome 9, 130435529: 130435529
20 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789
21 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
22 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh38 Chromosome 20, 63413535: 63413535
23 KCNQ2 NM_172107.3(KCNQ2): c.1160delC (p.Pro387Argfs) deletion Pathogenic rs796052657 GRCh37 Chromosome 20, 62059777: 62059777
24 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh37 Chromosome 20, 62070997: 62070997
25 ARX NM_139058.2(ARX): c.1002_1007delGTTCACinsTGTACCA (p.Phe335Valfs) indel Pathogenic rs869312662 GRCh38 Chromosome X, 25012988: 25012993
26 SCN1A NM_001165963.1(SCN1A): c.4282G> T (p.Val1428Phe) single nucleotide variant Pathogenic rs878854263 GRCh38 Chromosome 2, 166002474: 166002474
27 STXBP1 NM_003165.3(STXBP1): c.798T> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs751170778 GRCh38 Chromosome 9, 127668083: 127668083
28 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh38 Chromosome 16, 78425043: 78425043
29 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh37 Chromosome 16, 78458951: 78458951
30 KCNQ2 NM_172107.3(KCNQ2): c.1388_1389delTG (p.Val463Glufs) deletion Pathogenic rs878855236 GRCh38 Chromosome 20, 63415039: 63415040
31 GNAO1 NM_020988.2(GNAO1): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039494 GRCh37 Chromosome 16, 56370674: 56370674
32 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
33 KCNQ2 NM_172107.3(KCNQ2): c.868G> A (p.Gly290Ser) single nucleotide variant Pathogenic rs1057516098 GRCh38 Chromosome 20, 63439657: 63439657
34 SCN1A NM_001165963.1(SCN1A): c.4236delA (p.Val1413Terfs) deletion Pathogenic rs1060502183 GRCh38 Chromosome 2, 166002520: 166002520
35 SCN1A NM_001165963.1(SCN1A): c.4061G> T (p.Cys1354Phe) single nucleotide variant Pathogenic rs1057521537 GRCh38 Chromosome 2, 166002695: 166002695
36 SCN1A NM_001165963.1(SCN1A): c.312delC (p.Thr105Profs) deletion Pathogenic rs1060502187 GRCh38 Chromosome 2, 166058641: 166058641
37 SCN1A NM_001165963.1(SCN1A): c.3631dupT (p.Cys1211Leufs) duplication Pathogenic rs1060502182 GRCh38 Chromosome 2, 166013818: 166013818
38 SCN1A NM_001165963.1(SCN1A): c.3822T> G (p.Tyr1274Ter) single nucleotide variant Pathogenic rs1060502188 GRCh38 Chromosome 2, 166012166: 166012166
39 CACNA2D2 NM_006030.3(CACNA2D2): c.485_486delAT (p.Tyr162Terfs) deletion Pathogenic rs1060503108 GRCh38 Chromosome 3, 50387592: 50387593
40 STXBP1 NM_003165.3(STXBP1): c.1434G> A (p.Trp478Ter) single nucleotide variant Pathogenic rs1060501722 GRCh38 Chromosome 9, 127678505: 127678505
41 STXBP1 NM_003165.3(STXBP1): c.265delA (p.Ser89Valfs) deletion Pathogenic rs1060501723 GRCh38 Chromosome 9, 127660048: 127660048

Copy number variations for West Syndrome from CNVD:

7
id 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

Expression for West Syndrome

Search GEO for disease gene expression data for West Syndrome.

Pathways for West Syndrome

Pathways related to West Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 CACNA2D2 GNAO1 PLCB1 POMC SCN1A SCN2A
2
Show member pathways
12.47 GNAO1 GRIN2B KCNQ2 PLCB1 SCN1A
3
Show member pathways
12.31 CACNA2D2 GRIN2B PLCB1 SCN1A SCN2A
4
Show member pathways
12.23 CACNA2D2 GNAO1 PLCB1 POMC
5
Show member pathways
11.72 GNAO1 PLCB1 TSC2
6 11.68 GNAO1 GRIN2B KCNQ2 POMC SCN1A SCN2A
7
Show member pathways
11.55 KCNQ2 SCN1A SCN2A SPTAN1
8
Show member pathways
11.42 CACNA2D2 SCN1A SCN2A
9 10.73 KCNQ2 SCN1A SCN2A SPTAN1

GO Terms for West Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 9.26 SCN1A SCN2A
2 axon initial segment GO:0043194 9.16 KCNQ2 SCN1A
3 sodium channel complex GO:0034706 8.96 SCN1A SCN2A
4 node of Ranvier GO:0033268 8.8 KCNQ2 SCN1A SCN2A

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

id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.62 GRIN2B KCNQ2 SCN1A SCN2A
2 positive regulation of GTPase activity GO:0043547 9.5 CDKL5 GNAO1 GRIN2B PLCB1 SPTAN1 TBC1D24
3 glutamate receptor signaling pathway GO:0007215 9.4 GRIN2B PLCB1
4 preassembly of GPI anchor in ER membrane GO:0016254 9.37 PIGA PIGW
5 insulin-like growth factor receptor signaling pathway GO:0048009 9.26 PLCB1 TSC2
6 positive regulation of organ growth GO:0046622 9.16 ARX CACNA2D2
7 regulation of ion transmembrane transport GO:0034765 9.02 CACNA2D2 GRIN2B KCNQ2 SCN1A SCN2A

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.8 GRIN2B SCN1A SCN2A

Sources for West Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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