Search Results - "CEULEMANS, Berten"
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Successful use of fenfluramine as an add-on treatment for Dravet syndrome
Published in Epilepsia (Copenhagen) (01-07-2012)“…Summary Purpose: Despite the development of new antiepileptic drugs, Dravet syndrome frequently remains therapy resistant and is a catastrophic epilepsy…”
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Developmental unilateral facial palsy in a newborn: six cases and literature review
Published in European journal of pediatrics (01-03-2020)“…Unilateral facial palsy in a newborn is rarely caused by a developmental defect. It occurs either isolated or in the context of a syndrome. This article…”
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Therapeutic drug monitoring of fenfluramine in clinical practice: Pharmacokinetic variability and impact of concomitant antiseizure medications
Published in Epilepsia (Copenhagen) (01-03-2022)“…Objective This study was undertaken to determine the plasma concentration and pharmacokinetic variability of fenfluramine (FFA) and its main active metabolite…”
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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Published in Annals of neurology (01-01-2012)“…Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation…”
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Published in American journal of human genetics (06-12-2018)“…Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment…”
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Treatment of Focal-Onset Seizures in Children: Should This Be More Etiology-Driven?
Published in Frontiers in neurology (07-03-2022)“…To accelerate the process of licensing antiseizure medication (ASM) in children, extrapolation of efficacy data for focal-onset seizures from adults to…”
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Low-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndrome
Published in Therapeutic Advances in Neurological Disorders (01-11-2015)“…In this paper, we review the experience with fenfluramine in epileptic and other paroxysmal disorders. Since the best available data are from the treatment of…”
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Book Review Journal Article -
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Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial
Published in Epilepsia (Copenhagen) (01-10-2023)“…To assess the safety and efficacy of fenfluramine in the treatment of convulsive seizures in patients with Dravet syndrome. This multicenter, randomized,…”
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Pharmacological characterization of an antisense knockdown zebrafish model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine
Published in PloS one (12-05-2015)“…Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epilepsy syndromes. Distinct de novo mutations in the SCN1A gene…”
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Lessons learned from 40 novel PIGA patients and a review of the literature
Published in Epilepsia (Copenhagen) (01-06-2020)“…Objective To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)‐related congenital disorder of glycosylation (PIGA‐CDG) and…”
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
Published in Brain (London, England : 1878) (01-12-2020)“…KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and…”
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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
Published in Annals of neurology (01-09-2009)“…Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a…”
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A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
Published in Journal of neurodevelopmental disorders (02-08-2017)“…Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABA receptor…”
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14
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Published in American journal of human genetics (01-06-2001)“…Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by generalized tonic, clonic, and…”
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Pseudomonas aeruginosa in children with cerebral palsy: a prospective study
Published in Frontiers in pediatrics (06-11-2023)“…Introduction Children with cerebral palsy (CP) often present with chronic respiratory symptoms. Pseudomonas aeruginosa (PA), is a known pathogen associated…”
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Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy
Published in Pediatric neurology (01-04-2004)“…Mutations in the α-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy…”
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Clinical Investigation of French Maritime Pine Bark Extract on Attention-Deficit Hyperactivity Disorder as compared to Methylphenidate and Placebo: Part 1: Efficacy in a Randomised Trial
Published in Journal of functional foods (01-10-2022)“…[Display omitted] •Assessing the value of French Maritime Pine Bark Extract (PBE) in ADHD therapy as compared to methylphenidate (MPH) and placebo in a 10-week…”
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Childhood chronic inflammatory demyelinating polyneuroradiculopathy – Three cases and a review of the literature
Published in European journal of paediatric neurology (01-07-2012)“…Abstract Background Chronic inflammatory demyelinating polyneuroradiculopathy (CIDP) is an autoimmune disease of the peripheral nervous system, causing…”
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Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
Published in Frontiers in genetics (05-02-2020)“…NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in…”
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Clinical Investigation of French Maritime Pine Bark Extract on Attention-Deficit Hyperactivity Disorder as compared to Methylphenidate and Placebo: Part 2: Oxidative Stress and Immunological Modulation
Published in Journal of functional foods (01-10-2022)“…[Display omitted] •French Maritime Pine Bark Extract (PBE) in Attention-Deficit Hyperactivity Disorder (ADHD) compared to methylphenidate (MPH) and…”
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