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Recurrent Seizure-Triggered Takotsubo Syndrome With Phenotypic Switching and Rapid Functional Recovery: A Case Report -
Takotsubo syndrome (TTS) is an acute cardiomyopathy characterized by transient left ventricular systolic dysfunction, often mimicking acute coronary syndrome. Current pathophysiological concepts emphasize sympathetic overactivity and catecholamine excess as major determinants of myocardial stunning, and experimental models further suggest that high epinephrine concentrations may induce a beta-2...
Autoimmune mechanisms in drug-resistant focal epilepsy: Pathophysiology, biomarkers, and therapeutic implications -
This review explores the role of autoimmune mechanisms in drug-resistant epilepsy (DRE), with emphasis on etiology, mechanisms of drug resistance, and potential immunomodulatory interventions. A structured review of clinical and experimental studies was conducted to assess current knowledge on the interplay between molecular mechanisms and immune responses in DRE. Particular attention was given...
Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature -
CONCLUSIONS: A novel homozygous SCN1B splice site variant was identified in two unrelated consanguineous families as the most likely cause of the early-onset epilepsy. These findings underscore the importance of genetic screening and tailored therapeutic strategies in epilepsy management.
Frequency Band Personalization for Seizure Network Analysis in Multifocal Patients -
Stereo-electroencephalography (SEEG) is commonly used for pre-surgical evaluation in patients with multifocal epilepsy undergoing responsive neurostimulation (RNS). Seizure network modeling, a data-driven approach to assist RNS implantation and adjustment, benefits from individualized ictal signatures learned from SEEG data, including repetitive sharp waves, rhythmic discharges, and prominent f...
Deep learning discriminates seizures from normal brain oscillations in the electroencephalogram of a rat model of post-traumatic epilepsy -
This study used machine learning to objectively identify seizures in the electroencephalogram of a model of post-traumatic epilepsy based on fluid percussion injury in male rats. We applied transfer learning to a neural-network trained and tested on three potentially distinct electroencephalographic phenotypes: (1) late-onset convulsive seizures associated with rare post-traumatic epilepsy, (2)...
Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort -
Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain undiagnosed after short-read sequencing (SRS). We assessed long-read genome sequencing (LR-GS) in 38 previously unsolved infantile-onset DEE probands (10 singletons, 28 trios). Variant detection included s...
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