ReviewGenes2024
Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.
Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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.
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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
23 citing papers in PubMed, 29 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
- Shared molecular pathways in pediatric genetic epilepsies: Insights from a single-center cohort of 80 patients.Epilepsia open · 2026Article
- Time-frequency characteristics of scalp high-frequency oscillations provide complementary biomarkers in infantile epileptic spasms syndrome.Experimental physiology · 2026Article
- The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity.Epilepsia open · 2026Review
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- Article
- [Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Infantile epileptic spasms syndrome associated with a PTEN variant.Acta neurologica Belgica · 2026Article
- 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
- Identification of adrenocorticotropic hormone-specific therapeutic biomarkers in infantile epileptic spasm syndrome using data-independent acquisition mass spectrometry.Clinical proteomics · 2025Article
- Visual Function Characteristics inJournal of clinical medicine · 2025Article
- Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery.Epilepsy & behavior reports · 2025Article
- Review
- Association Between Scalp High-Frequency Oscillations and Burden of Amplitudes and Epileptiform Discharges (BASED) Scores in Infantile Epileptic Spasms Syndrome.Biomolecules · 2025Article
- Antiepileptic Drug Combinations for Epilepsy: Mechanisms, Clinical Strategies, and Future Prospects.International journal of molecular sciences · 2025Review
- New insights into epileptic spasm generation and treatment from the TTX animal model.Epilepsia open · 2025Article
- Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina.Epilepsia open · 2025Article
- The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues.Case reports in pediatrics · 2025Article
- Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by aFrontiers in pediatrics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG. A myriad of aetiologies are associated with the development of IESS; broadly, 60% of cases are thought to be structural, metabolic or infectious in nature, with the remainder genetic or of unknown cause. Epilepsy genetics is a growing field, and over 28 copy number variants and 70 single gene pathogenic variants related to IESS have been discovered to date. While not exhaustive, some of the most commonly reported genetic aetiologies include trisomy 21 and pathogenic variants in genes such as
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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.