Search Results - "BROUWER, O. F"
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Anorectal dysfunction in adults with spina bifida and associated socio-emotional factors—a retrospective, cross-sectional cohort study
Published in Spinal cord (01-07-2022)“…Study design Retrospective, cross-sectional study. Objectives To investigate prevalence, types, and severity of fecal incontinence (FI) and constipation in…”
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2
Male patients affected by mosaic PCDH19 mutations: five new cases
Published in Neurogenetics (01-07-2017)“…Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and…”
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3
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
Published in Clinical genetics (01-02-2011)“…Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome). Opitz–Kaveggia…”
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4
Subjective sleep disturbances in children with partial epilepsy and their effects on quality of life
Published in Epilepsy & behavior (01-09-2013)“…Abstract Purpose The purposes of this study were to explore the prevalence of sleep disturbances in a large cohort of school-aged children with partial…”
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Antiepileptic drug utilization in children from 1997–2005—a study from the Netherlands
Published in European journal of clinical pharmacology (01-10-2008)“…Objective To investigate the utilization of antiepileptic drugs (AEDs) in Dutch children and compare this with guidelines on the treatment of epilepsy in…”
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A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum
Published in Clinical genetics (01-09-2010)“…van Reeuwijk J, Olderode‐Berends MJW, van den Elzen C, Brouwer OF, Roscioli T, van Pampus MG, Scheffer H, Brunner HG, van Bokhoven H, Hol FA. A homozygous FKRP…”
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Impact of introduction of mid‐trimester scan on pregnancy outcome of open spina bifida in The Netherlands
Published in Ultrasound in obstetrics & gynecology (01-05-2014)“…ABSTRACT Objective To examine the impact of introduction of the mid‐trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The…”
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8
BENIGN NEONATAL SLEEP MYOCLONUS: A CASE WITH A SPINAL GENERATOR?
Published in Neurology (27-09-2011)Get full text
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9
The accuracy of the diagnosis of paroxysmal events in children
Published in Neurology (25-03-2003)“…To assess the accuracy of the diagnosis of epileptic seizures in children. The Dutch Study of Epilepsy in Childhood is a prospective hospital-based study of…”
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10
Four-year outcome after early withdrawal of antiepileptic drugs in childhood epilepsy
Published in Neurology (28-06-2005)“…Four-year follow-up of children with epilepsy included in a randomized trial of early withdrawal of antiepileptic drugs showed that 51% achieved a terminal…”
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11
Burst suppression on amplitude-integrated electroencephalogram may be induced by midazolam: a report on three cases
Published in Acta Paediatrica (01-04-2004)“…Continuous amplitude‐integrated electroencephalogram (aEEG) recording with a cerebral function monitor is a useful tool to evaluate prognoses following…”
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12
Muscle ultrasound density in human fetuses with spina bifida aperta
Published in Early human development (01-08-2009)“…Abstract Background In fetal spina bifida aperta (SBA), leg movements caudal to the meningomyelocele (MMC) are transiently present, but they disappear shortly…”
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Spinal hemorrhages are associated with early neonatal motor function loss in human spina bifida aperta
Published in Early human development (01-07-2008)“…Abstract Background In spina bifida aperta (SBA), leg movements caudal to the meningomyelocele are present in utero , but they disappear shortly after birth…”
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14
GLUT‐1 deficiency without epilepsy—an exceptional case
Published in Journal of inherited metabolic disease (01-01-2003)“…The GLUT‐1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood–brain barrier as a result of a defect in the…”
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Neurophysiological evaluation in children with Friedreich's ataxia
Published in Early human development (01-10-2009)“…Abstract Introduction In children with Friedreich's ataxia (FRDA children), clinical ataxia outcomes are hardly substantiated by underlying neurophysiological…”
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16
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
Published in Annals of neurology (01-07-1997)“…A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to…”
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The course of benign partial epilepsy of childhood with centrotemporal spikes : A meta-analysis
Published in Neurology (01-02-1997)“…We performed a meta-analysis of studies on benign epilepsy of childhood with centrotemporal spikes (BECT) to ascertain whether clinical characteristics and…”
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Randomized prospective study of early discontinuation of antiepileptic drugs in children with epilepsy
Published in Neurology (01-03-1998)“…We studied recurrence rate, risk factors for recurrence, and outcome after recurrence in children after early withdrawal of antiepileptic drugs (AEDs). One…”
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A rare cause of facial nerve palsy in children: Hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review
Published in European journal of paediatric neurology (01-11-2012)“…Abstract Differential diagnosis of facial nerve palsy in children is extensive. We report on three pediatric cases presenting with facial nerve palsy caused by…”
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Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood
Published in Journal of neurology, neurosurgery and psychiatry (01-02-2004)“…Objective: To assess the interrater agreement of the diagnosis and the classification of a first paroxysmal event in childhood. Methods: The descriptions of…”
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