A5056879201- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Spinal Dysraphism and Malformations
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Genetic Neurodegenerative Diseases
- Cerebrospinal fluid and hydrocephalus
- Neurogenetic and Muscular Disorders Research
- Fetal and Pediatric Neurological Disorders
- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Assisted Reproductive Technology and Twin Pregnancy
- Pharmaceutical studies and practices
- Neuroscience and Neuropharmacology Research
- Viral Infections and Immunology Research
- Migraine and Headache Studies
- Peripheral Neuropathies and Disorders
- Ion channel regulation and function
- Congenital Diaphragmatic Hernia Studies
University Medical Center Groningen
2014-2023
University of Groningen
2014-2023
Martini Ziekenhuis
2018
University Medical Center Utrecht
2003-2015
Early Intervention Foundation
2013-2015
Stichting Epilepsie Instellingen Nederland
2015
Epilepsy Foundation
2014
International League Against Epilepsy
2014
Wellcome Trust
2014
Leiden University
1994-2008
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum neurodevelopmental disorders prominent speech-related features, and epilepsy. We performed comprehensive assessment phenotypes standardized questionnaire in 92 previously unreported individuals GRIN2A-related disorders. Applying criteria American College Medical Genetics Genomics to all published variants yielded 156 additional cases pathogenic or likely resulting...
To study the course and outcome of childhood-onset epilepsy during 15-year follow-up (FU).We extended FU in 413 494 children with new-onset recruited a previously described prospective hospital-based by questionnaire.Mean was 14.8 years (range 11.6-17.5 years). Five-year terminal remission (TR) reached 71% cohort. Course favorable 50%, improving 29%, poor or deteriorating 16%. Mean duration seizure activity 6.0 0-21.5 years), strongly depending on etiology type. Duration <1 year 25% cohort...
Enterovirus-D68 (EV-D68) is a respiratory virus within the genus Enterovirus and family of Picornaviridae. Genetically, it closely related to rhinovirus that replicates in tract causes disease. Since 2014, EV-D68 has been associated with neurologic syndrome acute flaccid myelitis (AFM).In October 2016, questionnaires were sent out European network including 66 virologists clinicians, develop an inventory EV-D68-associated AFM cases Europe. Clinical virologic information case patients was...
<h3>OBJECTIVE</h3> To assess the accuracy of diagnosis a first unprovoked seizure in childhood, recurrence rate within two years, risk factors for recurrence, and long term outcome years after recurrence. <h3>METHODS</h3> One hundred fifty six children aged 1 month to 16 seizure, 51 with single disputable event were followed up. The was confirmed by panel three child neurologists on basis predescribed diagnostic criteria. None treated episode. <h3>RESULTS</h3> Five developed epileptic...
Abstract A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) cerebral abnormalities to evaluate the contribution MRI classification CMD patients. In 5 Walker‐Warburg syndrome (WWS), showed hydrocephalus due aqueduct stenosis, generalized cortical agyric or pachygyric polymicrogyria, diffuse hemispheric white matter abnormalities, and malformations posterior fossa structures. 4 muscle–eye–brain disease, dysplasia, but...
We have performed retinal fluorescein angiography and audiometry in 32 familial 7 sporadic cases of facioscapulohumeral muscular dystrophy. A mild to moderate vasculopathy, consisting teleangiectasis microaneurysms, was present 18 37 evaluable angiograms (49%); 5 patients had minimal changes 14 (38%) were normal. High frequency hearing loss found 25 (64%) out 39 patients. Retinal absent families (6 examined), after correction for age sex, function normal 19 (7 examined). Age severity the...
We describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including anamnestic data, clinical behavioral attributes at different ages. The picture of AS is most distinct between ages 2-16 years. Most this age group show least 8 major characteristics (bursts laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff puppetlike movements, typical stature, wide...
To evaluate the evolution of epileptic seizures and EEG features in a large group patients with Angelman syndrome (AS).Thirty-six AS proven chromosome 15q11-13 deletion were retrospectively analyzed regard to their epilepsy findings by examination patient files EEGs. AIJ EEGs reviewed one authors. A logistic regression model, follow-up from 1 39 years (mean, 15 years), was used for statistical analysis.Epileptic had occurred 30 (83%) patients. In 43% them, initial symptoms febrile...
We studied the clinical and EEG-findings in 28 adult patients (aged 20–53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11–13 deletion; 5, diagnosis was based on combination of typical findings. Compared to manifestations present childhood, "coarsening" facial traits (100%), thoracic scoliosis (71%), being wheelchair-bound (39%) were found more frequently. Paroxysms laughter still observed adulthood (79%), but less frequently than childhood. Most could feed...
Objectives. To further define the clinical spectrum of disease for pediatric and metabolic specialists, to suggest that general pediatrician neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in differential diagnosis patients with (idiopathic) mental retardation emphasize need accurate, quantitative organic acid analysis such patients. Patients. The features 23 (20 families) SSADH (4-hydroxybutyric aciduria) are presented. age at ranged from 3 months 25 years 11...
Objective. Long-term follow-up studies of patients with epilepsy have revealed an increased mortality risk compared the general population. Mortality children who in modern times is as yet unknown. Therefore, objective this study was to determine comparison Methods. Between August 1988 and 1992, 472 children, aged 1 month 16 years, presented participating hospitals 2 or more newly diagnosed unprovoked seizures at least status epilepticus were enrolled study. All followed for 5 years until...
Summary: Purpose: To examine which variables available early in the course of childhood epilepsy are associated with a poor short‐term outcome and to develop models predict such an outcome. Methods: We prospectively followed up 466 children newly diagnosed for 2 years. Variables were collected at intake after 6 months. Outcome was defined as duration terminal remission (TR): (<6 months) not (≥6 months). Results: Of subjects, 31% had Multivariate analysis based on identified number...
Extrapolating the figures from a previous study on FSHD in province of The Netherlands to entire Dutch population suggests that at present nearly complete overview is obtained all symptomatic kindred. In 139 families, dominant inheritance was observed 97, pattern compatible with germline mosaicism 6, while sporadic cases were found 36 families. A mutation frequency 9.6% calculated. Mental retardation and severe retinal vasculopathy reported low frequencies (1%). Early onset seen more...