Background: To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome.
Methods: Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox-Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3-26 months).
Results: Fifteen of 38 patients (39.5%) had a ≥ 50% seizure reduction in countable seizures. Complete seizure freedom was achieved in one of these patients (2.6%). Three patients (7.9%) had a 25-49% seizure reduction, whilst seizure frequency remained unchanged in 15 (39.5%) and increased in five patients (13.1%). Eleven patients (28.9%) reported adverse side effects. Vomiting was reported in five patients (13.1%); drowsiness, decreased appetite and irritability with migraine manifested in other four patients. They were transient and mild in all cases.
Conclusion: Rufinamide may be an effective and well-tolerated adjunctive drug for the treatment of refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Rufinamide was most effective in patients with drop-attacks and (bi)frontal spike-wave discharges.
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http://dx.doi.org/10.1111/j.1468-1331.2010.03113.x | DOI Listing |
BMJ Case Rep
January 2025
Clinical Pharmacology, Aalborg University Hospital, Aalborg, Region Nordjylland, Denmark
A middle childhood boy with epilepsy exhibited persistent low concentrations of valproic acid, lamotrigine and topiramate for over 1 month, primarily due to pharmacokinetic interactions involving fosphenytoin, meropenem and phenobarbital. Awareness of these clinically significant interactions is crucial for ensuring effective seizure control. However, further research is needed to establish optimal evidence-based treatment strategies in complex paediatric cases.
View Article and Find Full Text PDFMol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
View Article and Find Full Text PDFSci Rep
January 2025
Shanghai Key Laboratory of Magnetic Resonance, School of Physics and Electronic Science, East China Normal University, Shanghai, China.
Prediction of isocitrate dehydrogenase (IDH) mutation status and epilepsy occurrence are important to glioma patients. Although machine learning models have been constructed for both issues, the correlation between them has not been explored. Our study aimed to exploit this correlation to improve the performance of both of the IDH mutation status identification and epilepsy diagnosis models in patients with glioma II-IV.
View Article and Find Full Text PDFEpilepsy Res
January 2025
Department of Pediatric Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan. Electronic address:
Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is clinically characterized by biphasic seizures associated with mild to severe neurological sequelae and is the most common subtype of acute encephalopathy in Japan, accounting for around 30 % of cases. The present study retrospectively analyzed the utility of electroencephalography (EEG) in determining the optimal method of diagnosing AESD at the early stage.
Methods: This study explores early power value differences to differentiate acute encephalopathy from prolonged febrile seizure (FS).
Int J Clin Pharmacol Ther
January 2025
Objective: Valproic acid, frequently prescribed for neurological and psychiatric disorders, can cause hyperammonemia (HA). This retrospective study aimed to investigate the association among the basic characteristics, comorbidities, co-medications, and risk of HA in patients receiving valproic acid.
Materials And Methods: We compared groups with and without HA using data collected from the medical records of adults undergoing valproic acid monitoring between January 1, 2019, and December 31, 2021.
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