Josua Kegele
A5024547247- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neurological disorders and treatments
- Ion channel regulation and function
- Neuroscience and Neuropharmacology Research
- Genomic variations and chromosomal abnormalities
- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Pharmacological Effects and Toxicity Studies
- Cardiac electrophysiology and arrhythmias
- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- RNA modifications and cancer
- EEG and Brain-Computer Interfaces
- Parasitic Diseases Research and Treatment
- Olfactory and Sensory Function Studies
- Neuroscience and Neural Engineering
- Functional Brain Connectivity Studies
- Parasite Biology and Host Interactions
- Peripheral Nerve Disorders
- Fetal and Pediatric Neurological Disorders
- Vagus Nerve Stimulation Research
- Nutrition and Health in Aging
- Advanced MRI Techniques and Applications
Hertie Institute for Clinical Brain Research
2015-2025
University of Tübingen
2018-2025
Universitätsklinikum Tübingen
2024
University Children's Hospital Tübingen
2020-2023
Innsbruck Medical University
2015-2017
Abstract We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with aim of describing clinical phenotypes related to effects. Six different subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); 2, intermediate 33, mild intellectual disability, partially pharmaco-responsive); 3, developmental epileptic...
Introduction A novel focal cortex stimulation (FCS) device has recently received approval in Europe for patients with drug-resistant epilepsy (DRE). After 6 months of stimulation, 17 32 achieved ≥50% reduction seizure frequency compared their prestimulation baseline (responders). Currently, there is no established method predicting FCS treatment response prior to implantation. Methods and analysis This an ongoing combined retrospective-prospective non-interventional multicentre study....
Importance For the large population of people with drug-refractory epilepsy, alternative treatment approaches are needed. Clinical trial outcomes a novel stimulation device, which is newly available in Europe for patients predominant seizure focus, reported first time. Objective To perform pooled analysis results 2 prospective, multicenter, single-arm trials, A Pilot Study to Assess Feasibility Neurostimulation With EASEE System Treat Medically Refractory Focal Epilepsy (EASEE II) and...
Online activity-based epidemiological surveillance and forecasting is getting more attention. To date, Google search volumes have not been assessed for of tick-borne diseases. Thus, we performed an analysis the Lyme disease incidence based on traditional data extended with Trends.Data weekly in Germany from 16 June 2013 to 27 May 2018 were obtained database Robert Koch Institute. Data Internet searches Trends searching "Borreliose" "last 5 years" as a timespan category. split into training...
There is an increasing interest in stereo-electroencephalography (SEEG) for invasive evaluation of insular epilepsy. The implantation SEEG electrodes, however, still challenging due to the anatomical location and complex functional segmentation both anteroposterior ventrodorsal (i.e., superoinferior) direction. While orthogonal approach (OA) shortest trajectory insula, it might insufficiently cover these networks. In contrast, anterior (AOA) or posterior oblique (POA) has potential full...
Nodding Syndrome is a poorly understood epilepsy disorder in sub-Saharan Africa. The cause(s) of the disease, risk factors and long-term outcomes are unknown or controversial. objectives this study were to describe clinical course treatment individuals suffering from Syndrome. In addition, we aimed provide comprehensive characterization epileptological social features patients with From 11/2014 4/2015, conducted hospital-based, cross-sectional observational Mahenge, Tanzania. Seventy-eight...
Abstract Objective Benchmarking has been proposed to reflect surgical quality and represents the highest standard reference values for desirable results. We sought determine benchmark outcomes in patients after surgery drug‐resistant mesial temporal lobe epilepsy (MTLE). Methods This retrospective multicenter study included who underwent MTLE at 19 expert centers on five continents. Benchmarks were defined 15 endpoints covering outcome discharge, 1 year surgery, last available follow‐up....
Abstract Background Exome and genome sequencing are the predominant techniques in diagnosis research of genetic disorders. Sufficient, uniform reproducible/consistent sequence coverage is a main determinant for sensitivity to detect single-nucleotide (SNVs) copy number variants (CNVs). Here we compared ability obtain comprehensive exome recent capture kits techniques. Results We three different widely used enrichment (Agilent SureSelect Human All Exon V5, Agilent V7 Twist Bioscience) as well...
Epilepsy is considered as a network disorder of interacting brain regions. The propagation local epileptic activity from the seizure onset zone (SOZ) along neuronal networks determines semiology seizures. However, in highly interconnected regions such insula, association between SOZ and blurred necessitating invasive stereoelectroencephalography (SEEG). Normative connectomes on MRI data enable to link different symptoms lesion locations common functional network. present study applied...
De novo missense variants in KCNQ5, encoding the voltage-gated K+ channel KV7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out identify disease-related KCNQ5 genetic generalized epilepsy (GGE) their underlying mechanisms.1292 families with GGE were studied by next-generation sequencing. Whole-cell patch-clamp recordings, biotinylation phospholipid overlay assays performed mammalian cells combined homology...
Abstract The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). aims significantly increase the diagnostic success rate by co-analyzing data thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing, multiomics data. Here we report infrastructure devised created support this co-analysis. This enables users store, find,...
Abstract Objective This study was undertaken to report on the long‐term safety and efficacy of epicranial focal cortex stimulation (FCS) using EASEE device as adjunctive neuromodulatory therapy in improving seizure control adults with pharmacoresistant epilepsy originating from one predominant epileptogenic zone. Methods Prospective open‐label follow‐up patients II PIMIDES I clinical trials done for a period 2 years after implantation electrode stimulator device. Results Thirty‐three...
Severe malaria may influence inner ear function, although this possibility has not been examined prospectively. In a retrospective analysis, hearing impairment was found in 9 of 23 patients with cerebral malaria. An objective method to quickly evaluate the function are otoacoustic emissions. Negative transient emissions associated threshold shift 20 dB and above. This prospective multicenter study analyses severe up age 10 years. three sites (Ghana, Gabon, Kenya) 144 108 control children...
Backgrounds: To establish nerve ultrasound reference data in 8 to 17 years-old children and adolescents compare those younger children, adults age-matched with polyneuropathies. Methods: High-resolution of the nerves was performed 117 healthy at 20 predefined landmarks neck extremities both sides. Mean values, side-to side differences intraneural ratios as well upper limits have been calculated. In a second step comparison 25 same age range proven hereditary acquired neuropathies lysosomal...
Previous studies have described the association of onchocerciasis (caused by Onchocerca volvulus ) with epilepsy, including nodding syndrome, although a clear etiological link is still missing. Cases are found in different African countries (Tanzania, South Sudan, Uganda, Democratic Republic Congo, Central and Cameroon). In our study we investigated immunological parameters (cytokine, chemokine, immunoglobulin levels) individuals from Mahenge area, Tanzania, presenting either epilepsy or...
Nodding syndrome (NS) is a poorly understood form of childhood-onset epilepsy that characterized by the pathognomonic ictal phenomenon repetitive vertical head drops. To evaluate underlying neurophysiology, EEG features were evaluated in nine participants with confirmed NS from South Sudan, Tanzania, and Uganda presence high frequency gamma oscillations on scalp assessed. Ictal during nodding episode predominantly showed generalized slow waves or sharp-and-slow wave complexes followed...
Abstract Introduction Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs individuals with epilepsy DEE, sudden unexpected death (SUDEP) the major death. This study aimed to identify rate causes -related disorders. Methods Through an international call, we analyzed data on pathogenic variants, who passed away from related their disease....
Abstract Purpose Individuals with drug-resistant epilepsy may benefit from surgery. In nonlesional cases, where no epileptogenic lesion can be detected on structural magnetic resonance imaging, multimodal neuroimaging studies are required. Breath-hold-triggered BOLD fMRI (bh-fMRI) was developed to measure cerebrovascular reactivity in stroke or angiopathy and highlights regional network dysfunction by visualizing focal impaired flow increase after vasodilatory stimulus. This correlate the...