Yvonne Weber
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View article: Value of ultra‐high‐field <scp>MRI</scp> in patients with drug‐resistant focal epilepsy and negative <scp>3T MRI</scp> (<scp>EpiUltraStudy</scp>): Diagnostic gain of <scp>7T</scp> structural analysis
Value of ultra‐high‐field <span>MRI</span> in patients with drug‐resistant focal epilepsy and negative <span>3T MRI</span> (<span>EpiUltraStudy</span>): Diagnostic gain of <span>7T</span> structural analysis Open
Objective Resective epilepsy surgery is an evidence‐based treatment option for patients with focal drug‐resistant epilepsy (DRE). Seizure outcome after surgery is largely dependent on detection and delineation of an epileptogenic lesion on…
View article: Risk Management in “Other Clinical Investigations” According to Art. 82 MDR — Lessons Learnt from the EDITh Project
Risk Management in “Other Clinical Investigations” According to Art. 82 MDR — Lessons Learnt from the EDITh Project Open
With the implementation of the EU Medical Device Regulation (MDR), clinical trials of clinical decision support systems (CDSS) now often fall under Article 82 of the MDR. This mandates systematic risk management even for academic feasibili…
View article: Postictal punctate hippocampal diffusion restriction: the chicken or the egg?
Postictal punctate hippocampal diffusion restriction: the chicken or the egg? Open
Introduction Magnet resonance imaging (MRI) is the imaging gold standard for the evaluation of suspected epileptic seizures but also indispensable for detecting cerebral ischemia, using diffusion-weighted imaging (DWI) sequences. DWI restr…
View article: Modeling AP2M1 developmental and epileptic encephalopathy in <i>Drosophila</i>
Modeling AP2M1 developmental and epileptic encephalopathy in <i>Drosophila</i> Open
Genetic defects in AP2M1, which encodes the μ-subunit of the adaptor protein complex 2 (AP-2) essential for clathrin-mediated endocytosis, cause a rare form of developmental and epileptic encephalopathy (DEE). In this study, we modeled AP2…
View article: Investigating Aggression in Epilepsy Patients: Behavioral and Neuroimaging Insights
Investigating Aggression in Epilepsy Patients: Behavioral and Neuroimaging Insights Open
Objective: Patients with epilepsy, particularly those under treatment with certain antiseizure medications such as Levetiracetam (LEV), Brivaracetam (BRV), and Perampanel (PER), frequently report increased aggression and emotional difficul…
View article: Advancing Nursing Data Integration through a Nursing Minimum Data Set - Conceptual and Technical Development of a "Fall" Data Module (Preprint)
Advancing Nursing Data Integration through a Nursing Minimum Data Set - Conceptual and Technical Development of a "Fall" Data Module (Preprint) Open
UNSTRUCTURED Background: In ageing populations, the demand for care, including care delivery in long-term care facilities, is increasing. This situation highlights the need to optimize care processes through continuous scientific evaluati…
View article: Maternal imprinting of autoreactivity in a murine model of systemic lupus erythematosus
Maternal imprinting of autoreactivity in a murine model of systemic lupus erythematosus Open
Mammals confer passive immunity upon their offspring via transplacental IgG and postnatal transfer of milk IgA. Maternofetal microchimerism and the cytokine environment in utero may also influence the developing offspring. Normally protect…
View article: Changes in brain network dynamics during functional/dissociative seizures: An exploratory pilot study on EEG microstates
Changes in brain network dynamics during functional/dissociative seizures: An exploratory pilot study on EEG microstates Open
The pathophysiology of functional/dissociative seizures (FDS), also known as psychogenic nonepileptic seizures, remains incompletely understood. Current theories suggest that ictal changes in self-awareness and behavioural control are like…
View article: Modeling AP2M1 Developmental and Epileptic Encephalopathy in Drosophila
Modeling AP2M1 Developmental and Epileptic Encephalopathy in Drosophila Open
Genetic defects in AP2M1 , which encodes the μ-subunit of the adaptor protein complex 2 (AP-2) essential for clathrin-mediated endocytosis (CME), cause a rare form of developmental and epileptic encephalopathy (DEE). In this study, we mode…
View article: Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders Open
Genomic sequencing is widely used to identify causative genetic changes in neurodevelopmental disorders, such as autism, intellectual disability, and epilepsy. Most neurodevelopmental disorders also present with diverse clinical features, …
View article: Comprehensive analysis of human dendritic spine morphology and density
Comprehensive analysis of human dendritic spine morphology and density Open
This study presents a dataset of nearly 4,000 morphologically reconstructed human dendritic spines across different ages, gender, and tissue conditions. The dataset was further used to evaluate a deep learning algorithm for three-dimension…
View article: A potent epigenetic editor targeting human PCSK9 for durable reduction of low-density lipoprotein cholesterol levels
A potent epigenetic editor targeting human PCSK9 for durable reduction of low-density lipoprotein cholesterol levels Open
Epigenetic editing holds the promise of durable therapeutic effects by silencing disease-causing genes without changing the underlying DNA sequence. In this study, we designed an epigenetic editor to target human PCSK9 and thereby induce D…
View article: SeizeIT2: Wearable Dataset Of Patients With Focal Epilepsy
SeizeIT2: Wearable Dataset Of Patients With Focal Epilepsy Open
The increasing technological advancements towards miniaturized physiological measuring devices have enabled continuous monitoring of epileptic patients outside of specialized environments. The large amounts of data that can be recorded wit…
View article: Therapy response prediction of focal cortex stimulation based on clinical parameters: a multicentre, non-interventional study protocol
Therapy response prediction of focal cortex stimulation based on clinical parameters: a multicentre, non-interventional study protocol Open
Introduction A novel focal cortex stimulation (FCS) device has recently received approval in Europe for patients with focal drug-resistant epilepsy (DRE). After 6 months of stimulation, 17 of 32 patients achieved ≥50% reduction in seizure …
View article: The fruit fly Drosophila melanogaster as a screening model for antiseizure medications
The fruit fly Drosophila melanogaster as a screening model for antiseizure medications Open
Objective Resistance to antiseizure medications (ASMs) is a major challenge in the treatment of patients with epilepsy. Despite numerous newly marketed ASMs, the proportion of drug-resistant people with epilepsy has not significantly decre…
View article: Iterative Design of a Decision Support System for Fall Risk Detection in residential care facilities
Iterative Design of a Decision Support System for Fall Risk Detection in residential care facilities Open
Nursing care jobs are predominantly described as burdensome. In particular, the workload and the time available to deal with it are in a state of imbalance. Nurses are very often under time pressure and have to make decisions under psychol…
View article: Brain malformations and seizures by impaired chaperonin function of TRiC
Brain malformations and seizures by impaired chaperonin function of TRiC Open
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individual…
View article: Concept-based AI interpretability in physiological time-series data: Example of abnormality detection in electroencephalography
Concept-based AI interpretability in physiological time-series data: Example of abnormality detection in electroencephalography Open
TCAV has the potential to improve interpretability of deep learning applied to multi-channel signals as well as to detect possible biases in the data. Still, further work on developing the strategies for concept definition and validation o…
View article: Visualising Data Models of Patient Registries and Clinical Studies – A Method for Quality Check of EDC Systems
Visualising Data Models of Patient Registries and Clinical Studies – A Method for Quality Check of EDC Systems Open
Introduction: The configuration of electronic data capture (EDC) systems has a relevant impact on data quality in studies and patient registries. The objective was to develop a method to visualise the configuration of an EDC system to chec…
View article: Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard
Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard Open
The growing number of genes identified in relation to epilepsy represents a major breakthrough in diagnosis and treatment, but experts face the challenge of efficiently accessing and consolidating the vast amount of genetic data available.…
View article: Multimodal wearable EEG, EMG and accelerometry measurements improve the accuracy of tonic-clonic seizure detection
Multimodal wearable EEG, EMG and accelerometry measurements improve the accuracy of tonic-clonic seizure detection Open
Objective . This paper aims to investigate the possibility of detecting tonic-clonic seizures (TCSs) with behind-the-ear, two-channel wearable electroencephalography (EEG), and to evaluate its added value to non-EEG modalities in TCS detec…