Jul 2026· Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics· Vol 28 7, pp.
871-876
· 0 citations
Medicine
TL;DR
Children with NF1 and IESS commonly present with the typical triad of IESS, and some patients show NF1-related T2 hyperintense lesions in the basal ganglia on brain magnetic resonance imaging.
Neurofibromatosis Type 1 (NF1) is a common autosomal dominant neurocutaneous disorder, occurring in approximately one in 2,500-3,000 live births. It results from mutations in the NF1 gene and is characterised by diverse cutaneous, ophthalmologic, and neurological manifestations. Although seizures occur in 4-10% of affe...
M. Swetha, Smita Dey, Jayakaviyah· Journal of Clinical and Diag...· 0 citations
Bilateral leptomeningeal angioma and calcifications were associated with a more severe clinical phenotype, characterized by earlier seizure onset, higher rates of drug resistance, and cognitive impairment.
M. P. Ramos, María Celeste Buompadre· Medicina· 0 citations
The findings suggest a potential increased frequency of seizures in classic infantile Pompe disease in comparison with unaffected children, occurring predominantly after the age of 7, and that epilepsy is part of the CNS phenotype.
M. C. Faraguna, Alexander Broomfield, S. Gasperini et al.· Neurology: Genetics· 0 citations
Pediatric IAE is characterized by seizures and persistent disturbance of consciousness, with a predilection for deep brain structures and a high risk of poor prognosis.
Wen-Wen Lin, Xiaojie Song, Li Jiang· Zhongguo dang dai er ke za z...· 0 citations
While surgical boundaries remain highly restricted in deep-tissue infiltrative PN, the introduction of targeted MEK inhibitors marks a pivotal therapeutic paradigm shift and improving timely access to these therapies may help prevent further functional deterioration in selected pediatric patients.
Early-onset epilepsy in infancy exhibits heterogeneous features and the ILAE framework facilitates a systematic diagnostic approach and supports clinical management in pediatric patients.
Unknown authors· 0 citations
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