A5029286503- Epilepsy research and treatment
- Sleep and Wakefulness Research
- EEG and Brain-Computer Interfaces
- Neuroscience and Neuropharmacology Research
- Metabolism and Genetic Disorders
- Autoimmune Neurological Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neonatal and fetal brain pathology
- Amino Acid Enzymes and Metabolism
- Fetal and Pediatric Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Neuroscience of respiration and sleep
- Neurological disorders and treatments
- Neurological and metabolic disorders
- Atomic and Subatomic Physics Research
- Neural dynamics and brain function
- Diet and metabolism studies
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Functional Brain Connectivity Studies
- Neurology and Historical Studies
- Genetic and Kidney Cyst Diseases
- Folate and B Vitamins Research
- Advanced Chemical Sensor Technologies
University Children's Hospital Zurich
2013-2023
University of Zurich
2021-2023
Heidelberg University
2023
University Hospital Heidelberg
2023
Bambino Gesù Children's Hospital
2018
University of Florence
2018
University of Southern Denmark
2018
To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).Twenty-two patients, aged 19 months to 22 years, underwent assessment.Sixteen patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age 4 months, followed by slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, severe gastrointestinal symptoms (15/22), worsening...
Summary Objective In CSWS (continuous spike waves during sleep) activation of slow wave sleep has been causally linked to neuropsychological deficits, but the pathophysiologic mechanisms are still unknown. healthy subjects, overnight decrease slope in NREM (non–rapid eye movement) brain recovery regain optimal cognitive performance. Here, we investigated whether electrophysiologic hallmark , sleep, is related an alteration slope, and if this location density waves. Methods a retrospective...
Summary Objective In previous studies, we showed an altered overnight decrease of non–rapid‐eye‐movement ( NREM ) sleep slow waves in children with encephalopathy related to status epilepticus during ESES ). Here, test the hypothesis that these alterations renormalize after remission . Because has been linked brain recovery and cognition, investigate whether cognitive outcome is changes waves. Methods We performed a retrospective analysis longitudinal electroencephalography (EEG 10 patients...
The manuscript serves as an update on the current management practices for infantile spasm syndrome (ISS). It includes a detailed summary of level evidence different treatment options ISS and gives recommendations care patients with ISS.A literature search was performed using Cochrane Medline Databases (2014 to July 2020). All studies were objectively rated Scottish Intercollegiate Guidelines Network. For recommendations, from these combined used in 2014 guideline.If is suspected,...
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects in four MAS-proteins (encoded by MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic phenotype, well citrin deficiency (SLC25A13) complex hepatopathic-neuropsychiatric phenotype. Ketogenic diets (KD) are high-fat/low-carbohydrate diets, which...
To investigate the link between sleep disruption and cognitive impairment in childhood epilepsy by studying effect of on homeostasis, as reflected slow-wave activity (SWA).We examined SWA from overnight EEG-polysomnography 19 children with focal (mean [SD] age 11 years 6 months [3 years], range months-15 months; females, 13 males) 18 age- sex-matched typically developing controls, correlating this contemporaneous memory consolidation task scores, full-scale IQ, seizures, interictal...
Slow waves, the electroencephalographic (EEG) hallmark of deep sleep, can be systematically manipulated by acoustic stimulation: stimulation time-locked to down phase slow waves reduces, whereas up increases waves. Spike-waves during sleep seem related raising question whether spike-waves influenced such stimulation. In five pediatric patients, all-night EEG was recorded, combined with real-time wave detection. Throughout night, performed in a 3 × 5-min-block design (no...
Pathogenic variants in
Abstract Study Objectives Encephalopathy with electrical status epilepticus in sleep (ESES) is characterized by non-rapid eye movement (non-REM)-sleep-induced epileptiform activity and acquired cognitive deficits. The synaptic homeostasis hypothesis describes the process of daytime potentiation balanced downscaling non-REM-sleep considered crucial to retain an efficient cortical network. We aimed study overnight decline slow waves, indirect marker downscaling, patients ESES explore whether...
Plasticity of synaptic strength and density is a vital mechanism enabling memory consolidation, learning, neurodevelopment. It strongly dependent on the intact function N-Methyl-d-Aspartate Receptors (NMDAR). The importance NMDAR further evident as their dysfunction involved in many diseases such schizophrenia, Alzheimer's disease, neurodevelopmental disorders, epilepsies. Synaptic plasticity thought to be reflected by changes sleep slow wave slopes across night, namely higher after...
Thierry Deonna and Elaine Roulet-Perez (with contributions from Xavier De Tiège, Serge Goldmann, Patrick Van Bogaert). The Epilepsy-Aphasia Spectrum: From Landau–Kleffner Syndrome to Rolandic Epilepsy (Clinics in Developmental Medicine). London, UK: Mac Keith Press, 2016 (200 pages). ISBN 978–1-909962–76–7. £ 50.00/EUR 62.50
Children with self-limited focal epilepsies of childhood (SLFE) are known to show impaired memory functions, particularly in the verbal domain. Interictal epileptiform discharges (IED) these more pronounced nonrapid eye movement (NREM) sleep. Nonrapid sleep is crucial for consolidation newly-encoded memories. Therefore, we hypothesize that sleep-dependent altered relation IED children SLFE.We conducted a prospective case-control study. We applied (word pair) and visuospatial (two-dimensional...
Slow waves are an electrophysiological characteristic of non-rapid eye movement sleep and a marker the restorative function sleep. In certain pathological conditions, such as different types epilepsy, slow-wave is affected by epileptiform discharges forming so-called "spike-waves". Previous evidence shows that overnight change in slope slow during impaired under these conditions. However, past studies were performed small number patients, considering only short segments recording night....
Central nervous system (CNS) disorders are among the most frequent presentations in critically ill children. Status epilepticus (SE) is a scenario resuscitation bay. In patients with altered mental status, non-convulsive SE (NCSE) often underrecognized and impacts neurological outcome duration of hospitalization. An electroencephalogram (EEG) required to diagnose NCSE. However, standard EEG recordings time- staff-intensive, their availability limited, especially outside regular working...
<b>Background</b> Epileptic encephalopathy with continuous spike-and-waves during sleep (CSWS) occurs childhood and is characterized by an activation of spike wave complexes slow sleep. The location epileptic foci variable, as etiology. A relationship between the focus age has been shown in various focal epilepsies following a posterior-anterior trajectory, link to brain maturation proposed. We hypothesize that CSWS, maximal activity, corresponding focus, related shows evolution....
In 2018, Dobyns et al reported de novo MACF1 variants in eight children with a complex brain malformation[1]: diffuse pachygyria more severe posterior involvement; flat ventral brainstem - incosistently tiny bump on the surface; pontine clefts, and wiede medulla visible pyramids surface. This pattern appeared likely pathognomonic. Clinical features were developmental delay, spasticity, seizures within first year.
The epilepsy-aphasia spectrum consists of epilepsies with a strong activation epileptic discharges during non-rapid-eye-movement (NREM) sleep, variable seizure burden and language problems. homeostatic decrease slow waves (SW) NREM sleep (i.e. their amplitude/slope power) has been related to brain recovery cognitive function. Epileptic NREM-sleep were an impairment the slope SW deficits. In this longitudinal case study, we aim relate electrophysiological marker, i.e. overnight change SW,...
Background Sleep disturbances are intertwined with the progression and pathophysiology of psychotic symptoms in schizophrenia. Reductions sleep spindles, a major electrophysiological oscillation during non-rapid eye movement sleep, have been identified patients schizophrenia as potential biomarker representing impaired integrity thalamocortical network. Altered glutamatergic neurotransmission within this network via hypofunction N -methyl-D-aspartate receptor (NMDAR) is one hypotheses at...
Abstract Synaptic downscaling during sleep, a physiological process to restore synaptic homeostasis and maintain learning efficiency healthy brain development, has been related reduction of the slope sleep slow waves (SSW). However, such seems not be reflected in high‐amplitude SSW. Recently we have shown reduced SSW slopes hormonal treatment (adrenocorticotrophic hormone, prednisolone) patients with West syndrome (WS). Yet, whether this was successful or reflects specific effect hormone...
Abstract Objective Sleep disruption and cognitive impairment are important co-morbidities in childhood epilepsy, yet a mechanistic link has not been substantiated. Slow wave activity during sleep its homeostatic decrease across the night is associated with synaptic renormalisation, shows maturational changes over course of childhood. Here, we aimed to investigate effect epilepsy on homeostasis developing brain. Methods We examined relationship as reflected slow seizures, cognition behaviour,...
Objectives: Infantile spasm without hypsarrhythmia is a rare electroclinical entity of heterogeneous etiology. A new vitamin-B6-dependent epilepsy usually neonatal or very early onset (before 3 months) has been recently described and related to mutations in PLPBP, encoding for PLP-protein which proposed be intracellular PLP-homeostasis.