Observational studyPediatric neurology2018
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.
Observational study in Pediatric neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses 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
29 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Epilepsy surgery for children with epileptic spasms: A systematic review and meta-analysis with focus on predictors and outcomes.Epilepsia open · 2024Pooled it
- Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta-analysis.Annals of clinical and translational neurology · 2019Pooled it
- TUBB2A related epilepsy: novel variants and genotype-phenotype correlation.Scientific reports · 2026Article
- Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.Medicina (Kaunas, Lithuania) · 2025Review
- 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
- ALG13-Related Epilepsy: Current Insights and Future Research Directions.Neurochemical research · 2024Review
- Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.Molecular genetics & genomic medicine · 2024Article
- Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.Pediatric reports · 2024Article
- Electroclinical Features of Infantile Epileptic Spasms Syndrome.Annals of Indian Academy of Neurology · 2024Article
- Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.Epilepsia · 2024Article
- Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.Epilepsia open · 2023Article
- Steps to Improve Precision Medicine in Epilepsy.Molecular diagnosis & therapy · 2023Article
- A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.Neurogenetics · 2023Article
- Article
- Case report:Frontiers in neurology · 2023Article
- Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms.Neurology · 2022Article
- Brain Magnetic Resonance Imaging Findings in Infantile Spasms.Neurology international · 2022Article
- Long-term outcomes of infantile spasms in children treated with ketogenic diet therapy in combination with anti-seizure medications in a resource-limited region.Frontiers in epidemiology · 2022Article
- Infantile spasms-linked Nedd4-2 mediates hippocampal plasticity and learning via cofilin signaling.EMBO reports · 2021Article
- Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.Molecular genetics & genomic medicine · 2021Article
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9 authors.
Funding
Abstract
backgroundNo large-scale studies have specifically evaluated the outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or idiopathic. The Epilepsy Phenome/Genome Project aimed to characterize IS of unknown cause by phenotype and genotype analysis.
methodsWe undertook a retrospective multicenter observational cohort of 133 individuals within the Epilepsy Phenome/Genome Project database met criteria for IS of unknown cause with at least six months of follow-up data. Clinical medical records, imaging, and electroencephalography were examined.
resultsNormal development occurred in only 15% of IS of unknown cause. The majority (85%) had clinically documented developmental delay (15% mild, 20% moderate, and 50% severe) at last assessment (median 2.7 years; interquartile interval 1.71-6.25 years). Predictors of positive developmental outcomes included no delay prior to IS (P < 0.001), older age of IS onset (median six months old), and resolution of IS after initial treatment (P < 0.001). Additional seizures after IS occurred in 67%, with predictors being seizures prior to IS (P = 0.018), earlier age of IS onset (median five months old), and refractory IS (P = 0.008). On a research basis, whole exome sequencing identified 15% with de novo variants in known epilepsy genes. Individuals with a genetic finding were more likely to have poor developmental outcomes (P = 0.035).
conclusionsThe current study highlights the predominately unfavorable developmental outcomes and that subsequent seizures are common in children with IS of unknown cause. Ongoing genetic evaluation of IS of seemingly unknown cause is likely to yield a diagnosis and provide valuable prognostic information.
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