ReviewEpilepsia open2018
Metabolic etiologies in West syndrome.
Review in Epilepsia open, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- 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
- Article
- Efficacy and tolerability of celastrol and edaravone in the multiple-hit rat model of infantile spasms.Epilepsy & behavior : E&B · 2025Article
- Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.Pediatric reports · 2024Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Rare variant of TBL1XR1 in West syndrome: A case report.Molecular genetics & genomic medicine · 2022Review
- Targeted gut microbiota manipulation attenuates seizures in a model of infantile spasms syndrome.JCI insight · 2022Article
- Lesional Intractable Epileptic Spasms in Children: Electroclinical Localization and Postoperative Outcomes.Frontiers in neurology · 2022Article
- Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene.Epilepsy & behavior reports · 2022Article
- Classifying etiology of infantile spasms syndrome in resource-limited settings: A study from the South Asian region.Epilepsia open · 2021Article
- Review
- Infantile spasms-linked Nedd4-2 mediates hippocampal plasticity and learning via cofilin signaling.EMBO reports · 2021Article
- West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.Frontiers in pediatrics · 2021Article
- Use of the International League Against Epilepsy (ILAE) 1989, 2010, and 2017 Classification of Epilepsy in children in a low-resource setting: A hospital-based cross-sectional study.Epilepsia open · 2020Article
- Etiologic classification of infantile spasms using positron emission/magnetic resonance imaging and the efficacy of adrenocorticotropic hormone therapy.European journal of nuclear medicine and molecular imaging · 2020Article
- [Factors in first-time adrenocorticotropic hormone therapy and their influence on spasm control time in infantile spasms: a Cox proportional-hazards regression model analysis].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Treatment of infantile spasms.Epilepsia open · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.
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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.