ArticleDiseases (Basel, Switzerland)2025
Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series.
Article in Diseases (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- RNA-Based Therapeutics in Genetic Neurodevelopmental Disorders: Bridging Molecular Genetics and Precision Medicine.International journal of molecular sciences · 2026Review
- Age-Onset-Related Particularities of Pediatric MS-Understanding the Spectrum: A Tertiary Center Experience.Diseases (Basel, Switzerland) · 2025Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEpilepsy, particularly early-onset and drug-resistant forms, presents a significant challenge in pediatric neurology. Inborn errors of metabolism are increasingly recognized as important contributors to these types of epilepsy. Timely diagnosis and treatment are crucial in preventing irreversible metabolic damage and improving clinical outcomes in CAD deficiency. This condition is a progressive and severe metabolic disorder caused by biallelic deleterious variants in
methodsIn this paper, we present four new cases of EIEE-50, emphasizing the importance of early, specific therapeutic interventions.
resultsOral uridine 100 mg/kg/day was administrated with improvement of motor and cognitive function as well as immediate seizures control.
conclusionsOur findings underscore the potential for improved outcomes of EIEE-50 trought timely diagnosis and targeted treatment strategies, reinforcing the role of uridine supplementation as a promising therapeutic approach.
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