ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020
West syndrome: a comprehensive review.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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Who cites it
72 citing papers in PubMed, 153 citations in OpenAlex.
- A randomized controlled double-blind study on the brain protection of infantile patients with epileptic spasm syndrome through atomized inhalation of hydrogen-oxygen gas.Frontiers in neurologyTrial
- Article
- Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.Clinical case reports · 2026Article
- The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Brain : a journal of neurology · 2026Article
- Morphological Remodeling of Scalp High-Frequency Oscillations Across BASED-Stratified Groups in Infantile Epileptic Spasms Syndrome.Diagnostics (Basel, Switzerland) · 2026Article
- SinTransNet: an EEG-based deep learning framework for infantile epileptic spasms syndrome detection.BMC medical informatics and decision making · 2026Article
- Genetic Etiology in Children with Progressive Neuroregression.Indian journal of pediatrics · 2026Observational
- Investigation of the implementation and utilization of ketogenic diet therapy in China : For the Commission on Standardized Development of Epilepsy Centers and Commission on Ketogenic Diet, China Association Against Epilepsy.Acta epileptologica · 2026Article
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- The ketogenic diet alters microbiome-metabolome profiles to improve West syndrome therapy.Pediatric investigation · 2026Article
- Time-resolved phenotyping of seizure evolution in developmental and epileptic encephalopathy: insights and gaps from the CYFIP2 Arg87Cys mouse model.Frontiers in synaptic neuroscience · 2026Review
- Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification.Noro psikiyatri arsivi · 2026Article
- Clinical application of HMGB1-TLR4 signaling pathway-mediated neuroinflammatory markers in infantile epileptic spasms syndrome.Frontiers in immunology · 2026Article
- Infantile epileptic spasms syndrome: Mechanisms and therapeutic approaches.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- The acid-base balance homeostasis reflected by urine pH in children with infantile epileptic spasm syndrome may be associated with response to adrenocorticotropic hormone treatment: a retrospective cohort study.Translational pediatrics · 2025Article
- Seizure evolution in a mouse model of West syndrome involves complex and time-dependent synapse remodeling, gliosis and alterations in lipid metabolism.PLoS biology · 2025Article
- Article
- Sewage intrusion into drinking water distribution systems: implications for water resource management.Environmental monitoring and assessment · 2025Review
- Distinct T Cell Dysregulation Reflects Disease Severity and Progression in Infantile Epileptic Spasms Syndrome and Lennox-Gastaut Syndrome.Immune network · 2025Article
- Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.Developmental medicine and child neurology · 2025Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.