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Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy -
OBJECTIVE: This study was undertaken to characterize the functional impact of novel SLC12A5 variants in two unrelated patients with early onset developmental and epileptic encephalopathy (DEE) and to investigate the mechanisms underlying KCC2 dysfunction.
Bridging evidence gaps in dravet syndrome: real-world safety insights from under-reported antiseizure therapies -
INTRODUCTION: Dravet syndrome is an early-onset developmental and epileptic encephalopathy in which management must extend beyond seizure control to include the monitoring and treatment of neurodevelopmental and systemic comorbidities.
Neonatal Seizures: Clinical Spectrum, Etiology, and Current Approaches -
Neonatal seizure is a neurological emergency that requires rapid intervention due to the probability of significant underlying central nervous system damage. It is more common in preterm than in term neonates. An important feature of neonatal seizures is that there may be only electrographic seizures without clinical findings, making it impossible to diagnose without monitoring with electroence...
Combined Inhibition of TRPM4/NMDA Receptor Complex and Extrasynaptic NMDA Receptors Is Candidate Therapeutic Target for Suppression of Epileptic Seizures and Improvement of Cognitive Impairments -
Cognitive impairments are important therapeutic targets in epilepsy medication; however, effective pharmacological treatments for epilepsy patients with comorbid cognitive impairment have not been established. Effects of chronic administration of MK-801 (noncompetitive NMDA receptor inhibitor), memantine (low-affinity extrasynaptic-NMDA receptor preferential inhibitor), FP802 (TwinF interface i...
In vivo tau in epilepsy reflects clinical severity and immune- and ageing-related proteomic changes -
Tau pathology plays a central role in a number of neurodegenerative diseases, but its presence and relevance in epilepsy remain incompletely understood. Emerging evidence suggests that epilepsy may promote tau accumulation, yet whether this occurs in vivo, independent of comorbid dementia or amyloid pathology, is unclear. In this study, we combined [18F]flortaucipir (FTP) PET imaging with high-...
Analysis of treatment-naive gut microbiota in children with new-onset epilepsy -
CONCLUSION: Treatment-naïve new-onset epilepsy involves distinct gut dysbiosis. Antiepileptic drugs induce specific functional reconfiguration. Targeting these adaptations may offer new insights for seizure control.
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