A5061183307- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- Blood Coagulation and Thrombosis Mechanisms
- Advanced MRI Techniques and Applications
- Metabolism and Genetic Disorders
- Acute Ischemic Stroke Management
- Migraine and Headache Studies
- Ion channel regulation and function
- Neurogenetic and Muscular Disorders Research
- Ophthalmology and Eye Disorders
- Neurological Complications and Syndromes
- Anesthesia and Sedative Agents
- 14-3-3 protein interactions
- Cerebrovascular and Carotid Artery Diseases
- Infant Development and Preterm Care
- Ubiquitin and proteasome pathways
- Phonocardiography and Auscultation Techniques
- Ion Transport and Channel Regulation
- EEG and Brain-Computer Interfaces
- Fetal and Pediatric Neurological Disorders
- Pregnancy and preeclampsia studies
- Traumatic Brain Injury and Neurovascular Disturbances
- Peptidase Inhibition and Analysis
University Children's Hospital Zurich
2019-2023
British Columbia Children's Hospital
2014-2019
University of British Columbia
2014-2019
University Children’s Hospital Bern
2010-2018
University of Bern
2005-2018
University Hospital of Bern
2005-2017
HudsonAlpha Institute for Biotechnology
2016
University of Alabama
2016
University of Alabama at Birmingham
2016
Boston Children's Hospital
2013
Neonatal arterial ischemic stroke (NAIS) is associated with considerable lifetime burdens such as cerebral palsy, epilepsy, and cognitive impairment. Prospective epidemiologic studies that include outcome assessments are scarce. This study aimed to provide information on the epidemiology, clinical manifestations, infarct characteristics, variables, treatment strategies, outcomes of NAIS in a prospective, population-based cohort Swiss children.This prospective evaluated vascular territories,...
Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use targeted WES in early-onset epilepsy. was performed 180 patients epilepsy (≤5 years) unknown cause. Patients were classified as Retrospective (epilepsy diagnosis >6 months) or Prospective <6 months). an Ion Proton™ variant reporting restricted sequences 620 known genes. Diagnostic...
<h3>Objective:</h3> We describe 2 additional patients with early-onset epilepsy a de novo <i>FGF12</i> mutation. <h3>Methods:</h3> Whole-exome sequencing was performed in unrelated and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical evolution, EEG, neuroimaging are described. The phenotype response to treatment reviewed compared affected siblings the original report. <h3>Results:</h3> identified same mutation reported previously (c.G155A,...
BACKGROUND: Sedation protocols, including the use of sedation scales and regular stops, help to reduce length mechanical ventilation intensive care unit stay. Because clinical assessment depth is labor-intensive, performed only intermittently, interferes with sleep, processed electrophysiological signals from brain have gained interest as surrogates. We hypothesized that auditory event-related potentials (ERPs), Bispectral Index® (BIS), Entropy® can discriminate among clinically relevant...
Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying recurrent ALG13 de novo variant, p.(Asn107Ser), normal transferrin electrophoresis.We delineate phenotypic spectrum 38 individuals, 37 girls one boy, 16 them novel 22 published, most common pathogenic variant p.(Asn107Ser) additionally report three individuals other likely...
Genetic studies in sudden infant death syndrome (SIDS) and unexplained (SUD) cohorts have indicated that cardiovascular diseases might contributed to unexpected 20-35 % of autopsy-negative cases. Sudden can also occur people with epilepsy, termed as epilepsy (SUDEP). The pathophysiological mechanisms SUDEP are not well understood, but likely multifactorial, including seizure-induced hypoventilation arrhythmias genetic risk factors. some the SIDS/SUD victims be explained by therefore this...
Aim The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and differentiate them according aetiology. Method Clinical (acute follow‐up) findings were analysed prospectively 79 children (48 males, 31 females) aged 2 months 15 years 8 (median 5y 3mo) at the time by Swiss Neuropaediatric Stroke Registry from 2000 2006. Results confirmed acute period 36 out 41 who underwent computed tomography, 53 57 T2‐weighted magnetic...
Abstract Background To examine the impact on diagnosis, treatment and cost with early use of targeted whole-exome sequencing (WES) in early-onset epilepsy. Methods WES was performed 50 patients epilepsy (≤ 5 years) unknown cause. Patients were classified as retrospective (epilepsy diagnosis > 6 months) or prospective < months). an Ion ProtonTM variant reporting restricted to sequences 565 known genes. Diagnostic yield time calculated. An analysis also performed. Results A...
<h3>Background</h3> Chromosome MicroArray-based genomic copy-number analysis (CMA) has an important role in the discovery of both novel and recurrent epilepsy-associated copy number variants (CNVs) patients with epilepsy. In case additional neuro-developmental disorder diagnostic accuracy may be as high 15%. <h3>Objectives</h3> The purpose this study is to describe results performed CMA on 706 children unexplained epilepsy associated developmental delay/intellectual disability, autism...
Objective: To report the results of whole exome sequencing (WES) on 63 patients with early onset epilepsy unknown cause, evaluating diagnostic yield and possible treatment implications. Background: Modern genomic technologies, such as targeted high throughput next generation (tHTS) WES, enable identification pathogenic variants in 10 - 78 [percnt] selected unexplained epilepsy. The clinical impact is significant, including an earlier diagnosis disorders specific Methods: Between December...
Introduction: Considering the differences of paediatric to adult stroke neuroimaging pattern in different aetiologies childhood is interest. We describe after arterial ischaemic (AIS) and put them relation classification by Ganesan (Dev Med Child Neurol 2005, 47:252–256).