Published in SAGE Open Medical Case Reports
Dandy–Walker malformation is a group of brain malformations that sometimes present with psychotic features, violent and impulsive behavior, or mood symptoms. Here, we present a case report of a patient with Dandy–Walker malformation who presented with intermittent explosive disorder. A young man, aged 18 years, was brought to the author’s hospital ...
Published in Frontiers in Cellular Neuroscience
Epilepsy is a chronic brain disorder characterized by unprovoked seizures. Mechanisms underlying seizure activity have been intensely investigated. Alterations in astrocytic channels and transporters have shown to be a critical player in seizure generation and epileptogenesis. One key protein involved in such processes is the astrocyte water channe...
Published in Philosophical transactions. Series A, Mathematical, physical, and engineering sciences
In this research, a vagus nerve stimulator has been developed and miniaturized for use in epilepsy research. The board contains all the components necessary for its operation during the standard duration of the experiments, being possible to control it once implanted and even being able to reuse it. The VNS system has been designed for rodents sinc...
Seizures and epilepsy are some of the most common serious neurological disorders, with approximately 80% of patients living in developing/underdeveloped countries. However, about one in three patients do not respond to currently available pharmacological treatments, indicating the need for research into new anticonvulsant drugs (ACDs). The GABAergi...
Published in Brain : a journal of neurology
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have not been observed so far. Here, we harmonized clinical data across 534 individuals with STXBP1-relate...
Published in Frontiers in Neurology
Rationale High frequency oscillations (HFO; ripples = 80–200, fast ripples 200–500 Hz) are promising epileptic biomarkers in patients with epilepsy. However, especially in temporal epilepsies differentiation of epileptic and physiological HFO activity still remains a challenge. Physiological sleep-spindle-ripple formations are known to play a role ...
Published in Frontiers in Neuroscience
Interictal high-frequency oscillations (HFO) detected in electroencephalography recordings have been proposed as biomarkers of epileptogenesis, seizure propensity, disease severity, and treatment response. Automatic HFO detectors typically analyze the data offline using complex time-consuming algorithms, which limits their clinical application. Neu...
Published in International journal for numerical methods in biomedical engineering
Electroencephalography (EEG) is among the main tools used for analyzing and diagnosing epilepsy. The manual analysis of EEG must be conducted by highly trained clinicians or neuro-physiologists; a process that is considered to have a comparatively low inter-rater agreement. Furthermore, the new data interpretation consumes an excessive amount of ti...
Published in Journal of Neural Engineering
Objective. Seizure prediction devices for drug-resistant epileptic patients could lead to improved quality of life and new treatment options, but current approaches to classification of electroencephalography (EEG) segments for early identification of the pre-seizure state typically require many features and complex classifiers. We therefore propos...
Published in Journal of medical genetics
Pathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy. We recruited 13 adults (between 18 years and 45 years of age) with KCNQ2 encephalopathy and reviewed their clinical, EEG, neuroimaging and treatment history. While most patients had daily seizures at seizure onset, seizure frequency declined or remitted du...
