IS
MCID: WST001
MIFTS: 57

West Syndrome (IS) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for West Syndrome

Aliases & Descriptions for West Syndrome:

Name: West Syndrome 39 12 50 51 56 14 69
X-Linked Infantile Spasm Syndrome 50 25 69
Epileptic Encephalopathy, Early Infantile, 1 39 69
Infantile Spasm 50 69
West's Syndrome 50 29
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
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 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

MalaCards based summary : West Syndrome, also known as x-linked infantile spasm syndrome, is related to epileptic encephalopathy, early infantile, 15 and infantile spasms broad thumbs, and has symptoms including dyspnea, muscle spasticity and seizures. An important gene associated with West Syndrome is CDKL5 (Cyclin Dependent Kinase Like 5), and among its related pathways/superpathways is Neuroscience. The drugs Iloprost and Artemether have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and temporal lobe, 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 82)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 31.0 ARX CDKL5 SCN2A SIK1 SPTAN1 ST3GAL3
2 infantile spasms broad thumbs 11.9
3 infantile epileptic encephalopathy 11.6
4 epileptic encephalopathy, early infantile, 1 11.5
5 early myoclonic encephalopathy 11.1
6 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 10.7
7 epileptic encephalopathy, early infantile, 11 10.7
8 epileptic encephalopathy, early infantile, 13 10.7
9 cdkl5-related disorder 10.7
10 epileptic encephalopathy, early infantile, 12 10.7
11 panhypopituitarism, x-linked 10.3 CDKL5 FOXG1
12 coasy-associated neurodegeneration 10.3 FOXG1 MECP2
13 sensory peripheral neuropathy 10.3 ARX CDKL5 POMC STXBP1
14 persistent vegetative state 10.3 ARFGEF2 ARX FLNA
15 angiodysplasia 10.2 ARFGEF2 ARX FLNA
16 adolescence-adult electroclinical syndrome 10.2 ARX SCN2A STXBP1
17 sexual disorder 10.2 CDKL5 FOXG1 MECP2
18 autism spectrum disorder 10.2 ARX MECP2 POMC
19 mental retardation, x-linked syndromic 5 10.2 CDKL5 FLNA
20 encephalopathy, neonatal severe 10.2 CDKL5 FOXG1 MECP2 POMC STXBP1
21 gingivitis 10.2 ARX CDKL5 SIK1
22 early onset absence epilepsy 10.2 ARX CDKL5 POMC SCN2A STXBP1
23 meningitis and encephalitis 10.2 ABAT MECP2 PIGA
24 floppy infant syndrome 10.1 ARX CDKL5 MECP2 SCN2A STXBP1
25 microphthalmia, syndromic 2 10.1 ARX SCN2A
26 epilepsy 9.9
27 encephalopathy 9.9
28 cerebritis 9.9
29 tuberous sclerosis 9.7
30 lennox-gastaut syndrome 9.7
31 periventricular leukomalacia 9.7
32 leukomalacia 9.7
33 intellectual disability 9.6
34 vitamin b12 deficiency 9.6
35 porencephaly 9.6
36 schinzel giedion syndrome 9.5
37 neuronitis 9.5
38 down syndrome 9.5
39 lissencephaly 9.5
40 syndactyly 9.4
41 basal cell carcinoma 9.4
42 hemophilia a 9.4
43 quadriplegia 9.4
44 hyperphosphatasia with mental retardation syndrome 9.4
45 hypomelanosis of ito 9.4
46 hyperinsulinemic hypoglycemia 9.4
47 dystonia 9.4
48 autonomic dysfunction 9.4
49 cerebral hemorrhage 9.4
50 congenital toxoplasmosis 9.4

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 ARX CDKL5 FLNA FOXG1 GRIN2B MECP2
2 growth/size/body region MP:0005378 9.97 SCN2A SPTAN1 TBL1XR1 ARFGEF2 ARX FLNA
3 mortality/aging MP:0010768 9.77 ARFGEF2 ARX FLNA FOXG1 GRIN2B MECP2
4 nervous system MP:0003631 9.47 ARFGEF2 ARX CDKL5 FLNA FOXG1 GRIN2B

Drugs & Therapeutics for West Syndrome

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

(show top 50) (show all 945)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
2
Artemether Approved Phase 4 71963-77-4 119380 68911
3
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 154598-52-4 64139
4
Lumefantrine Approved Phase 4 82186-77-4 6437380
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
6
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1 129618-40-2 4463
7
Rifampin Approved Phase 4,Phase 1,Phase 2 13292-46-1 5458213 5381226
8
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
9
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
10
Norepinephrine Approved Phase 4,Phase 2,Phase 3 51-41-2 439260
11
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
12
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 192725-17-0 92727
13
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
14
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
15
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 147127-20-6 464205
16
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
17
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2 136470-78-5 65140 441300
18
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 143491-57-0 60877
19
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
20
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
21
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
22
Maraviroc Approved, Investigational Phase 4,Phase 3,Phase 2 376348-65-1 3002977
23
Fosamprenavir Approved Phase 4,Phase 3,Phase 2 226700-79-4 131536
24
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
25
Histamine Approved, Investigational Phase 4,Phase 2 75614-87-8, 51-45-6 774
26
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
27
Ibuprofen Approved Phase 4,Phase 3 15687-27-1 3672
28 Dolutegravir Approved Phase 4,Phase 3,Phase 2,Phase 1 1051375-16-6 54726191
29
Moxifloxacin Approved, Investigational Phase 4,Phase 1 354812-41-2, 151096-09-2 152946
30
Norgestimate Approved Phase 4,Phase 1 35189-28-7 6540478
31
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-23-7 5754 657311
32
Tipranavir Approved, Investigational Phase 4,Phase 3 174484-41-4 65027
33
Darunavir Approved Phase 4,Phase 3,Phase 2 635728-49-3, 206361-99-1 213039
34
Fenofibrate Approved Phase 4,Phase 3 49562-28-9 3339
35
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
36
Pravastatin Approved Phase 4,Phase 3,Phase 1 81093-37-0 54687
37
Magnesium oxide Approved Phase 4,Phase 2 1309-48-4 14792
38
Armodafinil Approved, Investigational Phase 4,Phase 3 112111-43-0
39
Modafinil Approved, Investigational Phase 4,Phase 3 68693-11-8 4236
40
Rasburicase Approved, Investigational Phase 4,Phase 3 134774-45-1
41
Pramipexole Approved, Investigational Phase 4,Phase 3 104632-26-0 59868 119570
42
Losartan Approved Phase 4 114798-26-4 3961
43
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
44
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
45
Rosiglitazone Approved, Investigational Phase 4,Phase 2 122320-73-4 77999
46
Everolimus Approved Phase 4,Phase 3,Phase 2 159351-69-6 6442177
47
Paclitaxel Approved, Vet_approved Phase 4,Phase 3 33069-62-4 36314
48
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
49
Pyrimethamine Approved, Vet_approved Phase 4,Phase 1 58-14-0 4993
50
Sulfadoxine Approved Phase 4 2447-57-6 17134

Interventional clinical trials:

(show top 50) (show all 1377)
id Name Status NCT ID Phase
1 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4
2 rAd-p53 Gene Therapy for Advanced Oral and Maxillofacial Malignant Tumors Unknown status NCT00902083 Phase 4
3 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
4 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
5 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4
6 rAd-p53 Gene Therapy for Advanced Malignant Thyroid Tumors Unknown status NCT00902122 Phase 4
7 A Randomized Cross Over Trial of Two Treatments for Obstructive Sleep Apnea in Veterans With Post Traumatic Stress Disorder Unknown status NCT01535586 Phase 4
8 Drug Interaction Between Coartem® and Nevirapine, Efavirenz or Rifampicin in HIV Positive Ugandan Patients Unknown status NCT00620438 Phase 4
9 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
10 An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder Completed NCT00961298 Phase 4
11 The Effects of Fish Oils on Blood Pressure, Heart Rate Variability and Liver Fat in the Polycystic Ovary Syndrome Completed NCT00620529 Phase 4
12 Regulation of Lipoprotein Transport in Metabolic Syndrome Completed NCT00841217 Phase 4
13 Pharmacological Regulation of Fat Transport in Metabolic Syndrome Completed NCT00632840 Phase 4
14 Assessment of Biomarkers and Cardiorenal Syndrome in Acute Decompensated Heart Failure With Vasodilator Therapy Completed NCT00842023 Phase 4
15 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
16 Studies of Traditional Chinese Medicine Clinical Efficacy Evaluation Index Completed NCT01502943 Phase 4
17 Trial of Chinese Herbal Medicine in the Treatment of Upper Respiratory Tract Infections (URTIs) Completed NCT00887172 Phase 4
18 Effect of Vitamin D Supplementation on Fasting Glucose and Interleukin-10 (IL-10) in Arab Women With Impaired Fasting Glucose Completed NCT00877123 Phase 4
19 Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB Completed NCT02348177 Phase 4
20 The Absorption of Magnesium Oxide Compared to Citrate in Healthy Subjects Completed NCT00994006 Phase 4
21 Efficacy and Safety of Armodafinil for Adults With Excessive Sleepiness Obstructive Sleep Apnea/Hypopnea and Depression Completed NCT00518986 Phase 4
22 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
23 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4
24 The Study of Drotrecogin Alfa (Activated) in a Subpopulation of Adult Patients With Severe Sepsis Completed NCT00045760 Phase 4
25 Phase IV Trial With Pramipexole to Evaluate Safety and Efficacy in Patients With RLS Associated With Mood Disturbances Completed NCT00356096 Phase 4
26 Efficacy and Safety of Qizhitongluo Capsule in the Recovery Phase of Ischemic Stroke Completed NCT01762163 Phase 4
27 Losartan in Hypertensive Men and Women With Sleep Apnea Before and on Continuous Positive Airway Pressure (CPAP) Treatment Completed NCT00701428 Phase 4
28 Restore Claims Characterization Study Completed NCT00200122 Phase 4
29 Drug-Eluting Stents vs. Bare Metal Stents In Saphenous Vein Graft Angioplasty Completed NCT01121224 Phase 4
30 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4
31 Fixed Versus Flexible Dosing of Pregabalin in Patients With Fibromyalgia Completed NCT01226667 Phase 4
32 Pioglitazone Study of Triglyceride Changes in Subjects With Type 2 Diabetes After Conversion From Rosiglitazone. Completed NCT00672919 Phase 4
33 A Study Comparing Duloxetine and Placebo in the Treatment of Fibromyalgia Completed NCT00673452 Phase 4
34 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
35 Intermittent Preventive Treatment of Malaria in HIV-Seropositive Pregnant Women in Zambia Completed NCT00270530 Phase 4
36 A Study of Aripiprazole (Abilify) in Patients With Bipolar Mania Completed NCT00261443 Phase 4
37 A Phase IV Study of the Safety and Efficacy of Aripiprazole in Combination With Lamotrigine in the Long-Term Maintenance Treatment of Patients With Bipolar I Disorder With A Recent Manic or Mixed Episode Completed NCT00277212 Phase 4
38 Tenofovir DF + Efavirenz (TDF+EFV) Versus Tenofovir DF + Efavirenz + Lamivudine (TDF+EFV+3TC) Maintenance Regimen in Virologically Controlled Patients: COOL Trial Completed NCT00643968 Phase 4
39 Efficacy of Pioglitazone on Bone Metabolism in Postmenopausal Women With Impaired Fasting Glucose. Completed NCT00708175 Phase 4
40 Male Partner Involvement in the Prevention of MTCT of HIV Completed NCT00405990 Phase 4
41 Pharmacokinetic Interaction Between the Antimalarial Combination Artemether/Lumefantrine and Combination Antiretroviral Therapy Including Lopinavir/Ritonavir in HIV-infected Adults Completed NCT00869700 Phase 4
42 A Dose Escalation Study of a Combination Antihypertensive Drug in the Treatment of Various Groups of Patients Who do Not Respond to Single Drug Treatment of Their High Blood Pressure Completed NCT00791258 Phase 4
43 A Simplification Study of Unboosted Reyataz With Epzicom (ASSURE) Completed NCT01102972 Phase 4
44 Can Resistance Enhance Selection of Treatment? (CREST) Completed NCT00262717 Phase 4
45 Antiretroviral Therapy for Advanced HIV Disease in South Africa Completed NCT00342355 Phase 4
46 HPTN 073 Black Men Who Have Sex With Men (MSM) Pre-Exposure Prophylaxis (PrEP) Completed NCT01808352 Phase 4
47 Continuous Use of COCs Completed NCT00570440 Phase 4
48 Maraviroc as an Immunomodulatory Drug for Antiretroviral-treated HIV Infected Patients Exhibiting Immunologic Failure Completed NCT00735072 Phase 4
49 Effectiveness And Safety Of Frovatriptan For The Management (Acute Treatment) Of Menstrual Migraine Completed NCT00904098 Phase 4
50 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4

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, Testes, Temporal Lobe, Heart, T Cells, Eye, Cortex

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 372)
id Title Authors Year
1
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. ( 28386848 )
2017
2
Wolf-Hirschhorn (4p-) syndrome with West syndrome. ( 27504263 )
2016
3
De novo GABRA1 mutations in Ohtahara and West syndromes. ( 26918889 )
2016
4
ACTH therapy for West syndrome with severe hemophilia A. ( 27896066 )
2016
5
WDR45 mutations in three male patients with West syndrome. ( 27030146 )
2016
6
Fast (40-150Hz) oscillations are associated with positive slow waves in the ictal EEGs of epileptic spasms in West syndrome. ( 27259671 )
2016
7
Intravenous immunoglobulin therapy is rarely effective as the initial treatment in West syndrome: A retrospective study of 70 patients. ( 27538618 )
2016
8
White Matter Abnormality Correlates with Developmental and Seizure Outcomes in West Syndrome of Unknown Etiology. ( 26585267 )
2016
9
Oral Prednisolone Versus Intramuscular Corticotropin in West Syndrome. ( 26857521 )
2016
10
Quinidine therapy for West syndrome with KCNTI mutation: A case report. ( 27578169 )
2016
11
Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients. ( 27082650 )
2016
12
ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). ( 26810914 )
2016
13
Evaluation of ten prognostic factors affecting the outcome of West syndrome. ( 26850102 )
2016
14
Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome. ( 27582501 )
2016
15
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. ( 25877686 )
2015
16
Predictive factors for relapse of epileptic spasms after adrenocorticotropic hormone therapy in West syndrome. ( 26547521 )
2015
17
De novo R853Q mutation of SCN2A gene and West syndrome. ( 25772804 )
2015
18
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. ( 25779538 )
2015
19
The Clinical Characteristics and Treatment Response in Children with West Syndrome in a Developing Country: A Retrospective Case Record Analysis. ( 25713006 )
2015
20
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. ( 26486472 )
2015
21
Heart rate variability in infants with West syndrome. ( 25891921 )
2015
22
Quantitative magnetic resonance imaging evidence forA altered structural remodeling of the temporal lobe in West syndrome. ( 25802930 )
2015
23
Occurrence of bilaterally independent epileptic spasms after a corpus callosotomy in West syndrome. ( 25998967 )
2015
24
West syndrome due to vitamin B12 deficiency. ( 26884697 )
2015
25
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
26
Severe early onset ethylmalonic encephalopathy with West syndrome. ( 26194623 )
2015
27
Relationship between initial electroencephalographic characteristics and seizure outcomes in children with non-lesional West syndrome. ( 25616455 )
2015
28
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
29
Investigations in West Syndrome: Which, When and Why. ( 26933581 )
2015
30
Long-term outcomes in patients with West syndrome: an outpatient clinical study. ( 25645640 )
2015
31
LAMA2-related congenital muscular dystrophy complicated by West syndrome. ( 25500573 )
2015
32
Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report. ( 26482603 )
2015
33
Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan. ( 24559837 )
2014
34
Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation. ( 25092550 )
2014
35
Ketosis and EEG improvement following viral gastroenteritis in patient with West syndrome. ( 24479997 )
2014
36
Successful treatment for West syndrome with severe combined immunodeficiency. ( 24534054 )
2014
37
Brain connectivity in West syndrome. ( 24794162 )
2014
38
Dental findings in patients with West syndrome: a report of two cases. ( 24739920 )
2014
39
Dental findings in children with West syndrome. ( 25353658 )
2014
40
Partial seizures during ACTH therapy in a cryptogenic West syndrome patient. ( 23352589 )
2014
41
Dyskinesia as a new adverse effect of hormonal treatment in West syndrome. ( 24556527 )
2014
42
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
43
A storm of fast (40-150Hz) oscillations during hypsarrhythmia in West syndrome. ( 25363350 )
2014
44
Psychomotor development following early treatment of severe infantile vitamin B12 deficiency and West syndrome - Is everything fine? A case report and review of literature. ( 24938481 )
2014
45
PET in infancy predicts long-term outcome during adolescence in cryptogenic West syndrome. ( 24676006 )
2014
46
West Syndrome in a Patient With Schinzel-Giedion Syndrome. ( 25028416 )
2014
47
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. ( 25102098 )
2014
48
Reduction in glutamine/glutamate levels in the cerebral cortex after adrenocorticotropic hormone therapy in patients with west syndrome. ( 24705707 )
2014
49
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome. ( 24939523 )
2014
50
Temporal lobe impairment in West syndrome: Event-related potential evidence. ( 25363285 )
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 GRCh38 Chromosome 9, 127678510: 127678510
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 GRCh38 Chromosome 20, 63428424: 63428424
24 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh38 Chromosome 20, 63439644: 63439644
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 GRCh37 Chromosome 9, 130430362: 130430362
28 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh37 Chromosome 16, 78458940: 78458940
29 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh38 Chromosome 16, 78425054: 78425054
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 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 11.53 GRIN2B MECP2 POMC SCN2A STXBP1

GO Terms for West Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.83 ARFGEF2 CDKL5 GRIN2B PLCB1 SPTAN1
2 brain development GO:0007420 9.62 FOXG1 MECP2 PHGDH PLCB1
3 glutamine metabolic process GO:0006541 9.46 MECP2 PHGDH
4 protein localization to plasma membrane GO:0072659 9.43 FLNA PIGW STXBP1
5 glutamate receptor signaling pathway GO:0007215 9.4 GRIN2B PLCB1
6 preassembly of GPI anchor in ER membrane GO:0016254 9.37 PIGA PIGW
7 cerebral cortex development GO:0021987 9.33 FLNA FOXG1 PLCB1
8 regulation of gene expression GO:0010468 9.26 FOXG1 MECP2 PHGDH TBL1XR1
9 gamma-aminobutyric acid metabolic process GO:0009448 8.62 ABAT PHGDH

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

id Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.8 MECP2 STXBP1 TBL1XR1

Sources for West Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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