A5002070976- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Neonatal and fetal brain pathology
- Genomic variations and chromosomal abnormalities
- Ion Transport and Channel Regulation
- Renal function and acid-base balance
- Neuroscience of respiration and sleep
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Ophthalmology and Eye Disorders
- Respiratory and Cough-Related Research
- Glycogen Storage Diseases and Myoclonus
- Viral Infections and Immunology Research
- Vascular anomalies and interventions
- Spinal Hematomas and Complications
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Fetal and Pediatric Neurological Disorders
- EEG and Brain-Computer Interfaces
- Gastroesophageal reflux and treatments
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Migraine and Headache Studies
Ente Ospedaliero Cantonale
2013-2022
Institute of Oncology Research
2021
Istituto Pediatrico della Svizzera Italiana
2019-2021
Ospedale San Giovanni Bellinzona
2004-2019
Ospedale Regionale di Bellinzona e Valli
2010-2017
University of Bern
1997-2014
Ospedale Regionale di Mendrisio
2012
Nuovo Ospedale San Giovanni di Dio
2004
Boston Children's Hospital
1995
In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated variants gene protocadherin 19 ( PCDH ). We describe clinical course, and electrographic, imaging, genetic, neuropathological features a cohort female pharmacoresistant epilepsy. All five (mean age 10y) had an onset during infancy predominance fever sensitive seizures occurring clusters. Cognitive impairment was noted four out patients. Radiological evidence present all...
Abstract Background Rett syndrome (RS) is a severe neurodevelopmental disorder for which there no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using pre-post case–control design. Methods At the University Basel Children’s Hospital, Basel, Switzerland, were included if they older than 6 years met established diagnostic criteria RS, including positive MeCP2 mutation. Participants observed months before after treatment received 12...
During a 3-y period 13 newborns were referred for investigation of jerks. The events epileptic in six children. diagnosis benign neonatal sleep myoclonus was made the remaining seven children.Benign is an important entity that can be mistaken epilepsy.
Microduplication of the 22q11.2 chromosomal region has been recognized since 1999 and associated with a highly variable phenotype. Neurodevelopmental impairment behavioural problems are very common in patients duplication. Autism spectrum disorders (ASDs) have previously reported only two duplication striking dysmorphic features. We report here on 4‐year‐old male healthy consanguineous parents presenting ASD according to DSMIV, revised, criteria as primary manifestation. The child walked at...
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...
WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • In children antipyretic drugs should be prescribed to treat the general discomfort that accompanies fever. Nonetheless, a gap often exists between available evidence and clinical practice. Fever is cause of fear among both parents health care providers. Prescription patterns several are modulated by socio‐cultural factors. STUDY ADDS Among main regions Switzerland there significant regional differences in symptomatic fever management as well...
Both Duchenne muscular dystrophy (DMD) and Becker (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients less affected clinically than DMD patients. We present five with a diagnosis BMD. First, two identical twins, deletion exon 48 gene, who experienced prominent muscle cramps from age three. The histopathological examination biopsies these twins revealed only very slight fiber alterations. Second, brothers displayed marked, unusual intrafamilial variability clinical...
Five children (3 girls and 2 boys) who showed generalized synchronous 3/sec spike wave complexes as well centrotemporal spikes in the same EEG or different EEGs are described. Among these five patients only 1 boy girl clinically both absence seizures partial motor with without secondary generalization. One have absences other seizures. A concomitance of discharges patient is rarely found. The clinical manifestation extremely rare.
The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination typical magnetic resonance imaging findings. Sudden onset tetra- or paraparesis and dissociated sensory loss bladder dysfunction are the leading signs. We discuss radiologic findings an adolescent presenting syndrome. laboratory results showed a hereditary protein S deficiency. (J Child Neurol 2001;16:134-135).