ReviewPediatric neurology2011
Genetic and biologic classification of infantile spasms.
Review in Pediatric neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 164 citations in OpenAlex.
- Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta-analysis.Annals of clinical and translational neurology · 2019Pooled it
- Infantile epileptic spasms syndrome: Mechanisms and therapeutic approaches.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.Medicina (Kaunas, Lithuania) · 2025Review
- The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome.Human molecular genetics · 2025Article
- Epidemiology of Epileptic Spasm and Affecting Factors on One-Year Prognosis: A Study in Tabriz Children's Hospital.Iranian journal of child neurology · 2025Article
- Association between maternal usage of volatile organic compounds and West syndrome, the Japan Environment and Children's study.Scientific reports · 2024Article
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.Genes · 2024Review
- Demographic characteristics and clinical presentation of infants with infantile epileptic spasms syndrome and their response to therapy: Data from Sri Lanka Infantile Spasms Registry.Annals of the Child Neurology Society · 2023Article
- Efficacy analysis of oral dexamethasone in the treatment of infantile spasms and infantile spasms related Lennox-Gastaut syndrome.BMC pediatrics · 2023Article
- Heterozygous GABAEpilepsia · 2023Article
- Cortical Parvalbumin-Positive Interneuron Development and Function Are Altered in the APC Conditional Knockout Mouse Model of Infantile and Epileptic Spasms Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Adrenocorticotropic Hormone (ACTH)-Induced Dyskinesias in Infantile Spasms: A Video Case Report.The American journal of case reports · 2022Article
- 2-deoxyglucose and β-hydroxybutyrate fail to attenuate seizures in the betamethasone-NMDA model of infantile spasms.Epilepsia open · 2022Article
- Article
- Lesional Intractable Epileptic Spasms in Children: Electroclinical Localization and Postoperative Outcomes.Frontiers in neurology · 2022Article
- Classifying etiology of infantile spasms syndrome in resource-limited settings: A study from the South Asian region.Epilepsia open · 2021Article
- A novel variant ofCold Spring Harbor molecular case studies · 2021Article
- Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center.Neurosciences (Riyadh, Saudi Arabia) · 2021Article
- Article
11 more citing papers are in PubMed but not listed here.
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 2 institutions in 1 country.
Funding
Abstract
Infantile spasms constitute an age-dependent epilepsy, highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much likelier to manifest infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children demonstrating genetic associations with infantile spasms also manifest phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. Therefore we propose a biologic classification of genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on those data. The two best described pathways of pathogenesis involve abnormalities in the gene regulatory network of gamma-aminobutyric acidergic forebrain development and abnormalities in molecules expressed at the synapse. These genetic and biologic classifications are flexible, and they should encourage much needed progress in syndrome recognition, clinical genetic testing, and the development of new therapies targeting specific pathways of pathogenesis.
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What OpenQuestion holds
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.