ArticleFrontiers in pediatrics2022
Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed.
- Vigabatrin-associated brain abnormalities on MRI (VABAM) in children with epileptic spasms.Pediatric research · 2026Observational
- Epilepsy and Neurodevelopment Outcomes 24 Months after Neonatal Hypoxic-Ischemic Encephalopathy and Predictive Factors of Post-neonatal Epilepsy.Neuropediatrics · 2026Article
- Development and validation of a machine learning model to predict prognostic outcomes in infantile epileptic spasms syndrome.Frontiers in pediatrics · 2026Article
- Late-onset epileptic spasms: presentation, aetiology and outcome.Brain communications · 2026Article
- Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.Medicina (Kaunas, Lithuania) · 2025Review
- The multiple hit model of infantile and epileptic spasms: The 2025 update.Epilepsia open · 2025Article
- Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery.Epilepsy & behavior reports · 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
- The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.European journal of neurology · 2025Article
- Exhaustive clinical examination of etiology and initial response to first-line treatment in 577 children with infantile epileptic spasm syndrome children: A 5-year retrospective observational study.Annals of clinical and translational neurology · 2024Observational
- Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.American journal of medical genetics. Part A · 2024Article
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.Genes · 2024Review
- Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome.Frontiers in pediatrics · 2024Article
- Review
- Electrophysiological network predicts clinical response to vigabatrin in epileptic spasms.Frontiers in neurology · 2023Article
- HMGB1-TLR4 signaling-mediated neuroinflammation contributes to the pathogenesis of infantile epileptic spasms syndrome in rats.Frontiers in neurologyArticle
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Objective: To explore the etiology of infantile spasms (IS) in a large Chinese cohort based on the United States National Infantile Spasms Consortium (NISC) classification. Methods: In the present study, we recruited IS patients diagnosed at a single center (Xiangya Hospital, Central South University) between Jan 2010 and Aug 2019. Thereafter, we collected their clinical and genetic information retrospectively. Their underlying etiologies were classified according to the NISC classification and then compared in different scenarios to understand their distribution. Results: A total of 541 patients with IS from 18 provinces were included in this study. The underlying etiology was identified in 53.2% of the cases: structural-acquired, 25.3%; genetic, 12.9%; genetic-structural, 7.2%; structural-congenital, 5.0%; metabolic, 2.4%; infections, 0.4% and immune, 0%. Whole-exome sequencing (WES) provided the highest diagnostic yield (26.9%). In structural-acquired IS, the proportion of hypoglycemic brain injuries was significant, second only to hypoxic-ischemic encephalopathy. There was no patient discovered to have Down syndrome. Significance: The most prevalent cause of IS was structural acquired followed by genetic causes. When brain MRI fails to detect the etiology, we propose WES as the next step. Structural-acquired IS and cases with genetic disorders are characteristic of the Chinese cohort, however, the etiology differs with the patient's age of onset, gestation age at birth, sex, and the presence/absence of both pre-spasm seizures, and hypsarrhythmia.
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