Published in Eur J Paediatr Neurol on March 06, 2010
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21
Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol (2012) 1.12
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol (2014) 0.84
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. J Neurol (2016) 0.80
Association between inadequate sleep and insulin resistance in obese children. J Pediatr (2007) 2.76
The tower of Babel: survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America. Epilepsia (2012) 2.73
MRI findings and sleep apnea in children with Chiari I malformation. Pediatr Neurol (2013) 2.13
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med (Berl) (2005) 1.55
Long-term response to high-dose diazepam treatment in continuous spikes and waves during sleep. Pediatr Neurol (2013) 1.41
Teaching Video NeuroImages: complex partial seizure evolving into a psychogenic nonepileptic seizure. Neurology (2010) 1.39
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia (2012) 1.17
Clinical spectrum in CADASIL family with a new mutation. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub (2013) 1.10
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain (2009) 1.08
Severity of obstructive sleep apnea in children with sickle cell disease. J Pediatr Hematol Oncol (2008) 1.08
Acute disseminated encephalomyelitis in children: discordant neurologic and neuroimaging abnormalities and response to plasmapheresis. Pediatrics (2005) 1.07
MRI findings in pediatric ophthalmoplegic migraine: a case report and literature review. Pediatr Neurol (2007) 1.05
Sleep patterns in pediatric sickle cell disease. Pediatr Blood Cancer (2010) 1.03
Polysomnographic findings in children with headaches. Pediatr Neurol (2008) 1.01
Narcolepsy in children: a single-center clinical experience. Pediatr Neurol (2008) 1.00
Spectrum of polysomnographic abnormalities in children with epilepsy. Pediatr Neurol (2008) 0.98
Cardiopulmonary complications during pediatric seizures: a prelude to understanding SUDEP. Epilepsia (2013) 0.98
Algorithms for sleep-wake identification using actigraphy: a comparative study and new results. J Sleep Res (2009) 0.97
Intravenous levetiracetam in children with epilepsy. Pediatr Neurol (2008) 0.97
Aggravation of seizures and/or EEG features in children treated with oxcarbazepine monotherapy. Epilepsia (2007) 0.96
Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A (2011) 0.94
Correlation between child and parental perceptions of health-related quality of life in epilepsy using the PedsQL.v4.0 measurement model. Epileptic Disord (2010) 0.93
Correlates of periodic limb movements of sleep in the pediatric population. Pediatr Neurol (2008) 0.92
Electrical status epilepticus in sleep: clinical presentation and pathophysiology. Pediatr Neurol (2012) 0.92
Efficacy and tolerability of topiramate in pediatric migraine. Pediatr Neurol (2009) 0.92
Clinical staging and electroencephalographic evolution of continuous spikes and waves during sleep. Epilepsia (2012) 0.92
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis (2014) 0.90
Chronobiology of epilepsy: diagnostic and therapeutic implications of chrono-epileptology. J Clin Neurophysiol (2011) 0.90
Short-term response of sleep-potentiated spiking to high-dose diazepam in electric status epilepticus during sleep. Pediatr Neurol (2012) 0.90
Efficacy and tolerability of topiramate in children younger than 2 years old. J Child Neurol (2005) 0.90
[Homocysteine and asymmetric dimethylarginine (ADMA) in epilepsy]. Przegl Lek (2009) 0.89
Experience with rufinamide in a pediatric population: a single center's experience. Pediatr Neurol (2010) 0.89
Effect of treatment of obstructive sleep apnea on seizure outcomes in children with epilepsy. Pediatr Neurol (2012) 0.89
Epileptic and nonepileptic paroxysmal events out of sleep in children. J Clin Neurophysiol (2011) 0.88
Restless legs syndrome and periodic limb movements disorder in the pediatric population. Curr Opin Pulm Med (2010) 0.87
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. Am J Med Genet A (2009) 0.87
Risk factors associated with death in in-hospital pediatric convulsive status epilepticus. PLoS One (2012) 0.86
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. Epileptic Disord (2011) 0.86
Experience with lacosamide in a series of children with drug-resistant focal epilepsy. Pediatr Neurol (2011) 0.85
Cytokines, epilepsy and epileptic drugs--is there a mutual influence? Pharmacol Rep (2007) 0.85
Circadian distribution and sleep/wake patterns of generalized seizures in children. Epilepsia (2011) 0.85
[Prevalence of sleep problems in children with cerebral palsy. Preliminary study]. Ann Acad Med Stetin (2008) 0.85
Vagus nerve stimulation in children with refractory epilepsy: unusual complications and relationship to sleep-disordered breathing. Childs Nerv Syst (2007) 0.85
Bruxism in children: effect on sleep architecture and daytime cognitive performance and behavior. Sleep (2006) 0.84
Comparison of cardiorespiratory and EEG abnormalities with seizures in adults and children. Epilepsy Behav (2013) 0.84
Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav (2012) 0.83
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis (2013) 0.83
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate. Pediatr Neurol (2007) 0.83
Sleep and epilepsy: common bedfellows. J Clin Neurophysiol (2011) 0.83
Obstructive sleep apnea in infancy: a 7-year experience at a pediatric sleep center. Pediatr Pulmonol (2013) 0.82
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. Seizure (2009) 0.82
Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia (2014) 0.81
Levetiracetam monotherapy in children with epilepsy. Pediatr Neurol (2007) 0.81
Insomnia of childhood. Curr Opin Pediatr (2008) 0.80
New onset epilepsy in Prader-Willi syndrome: semiology and literature review. Pediatr Neurol (2010) 0.80
Anomalous inhibitory circuits in cortical tubers of human tuberous sclerosis complex associated with refractory epilepsy: aberrant expression of parvalbumin and calbindin-D28k in dysplastic cortex. J Child Neurol (2006) 0.80
Chronic sorrow and coping in families of children with epilepsy. J Neurosci Nurs (2007) 0.80
Epileptic seizures in the pediatric intensive care unit setting. Epileptic Disord (2006) 0.80
Position statement on laws and regulations concerning life-sustaining treatment, including artificial nutrition and hydration, for patients lacking decision-making capacity. Neurology (2008) 0.80
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. Hum Mutat (2010) 0.79
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. J Inherit Metab Dis (2013) 0.79
New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Mol Genet Metab (2003) 0.79
Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy. DNA Cell Biol (2013) 0.79
Outcomes of epileptic spasms in patients aged less than 3 years: single-center United States experience. Pediatr Neurol (2012) 0.79
Relationship of serum ferritin levels to sleep fragmentation and periodic limb movements of sleep on polysomnography in autism spectrum disorders. Pediatr Neurol (2013) 0.79
Electroencephalogram monitoring during intracranial surgery for moyamoya disease. Pediatr Neurol (2011) 0.79
Intrathecal baclofen overdose followed by withdrawal: clinical and EEG features. Pediatr Neurol (2005) 0.79
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Clin Chim Acta (2009) 0.79
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. Hepatol Res (2004) 0.79
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2011) 0.78
Association between H1N1 vaccination and narcolepsy-cataplexy: flu to sleep. Neurology (2013) 0.78
The diagnostic yield of pediatric polysomnography based on the professional background of referring physicians. Clin Pediatr (Phila) (2013) 0.78
Clinical evolution of seizures: distribution across time of day and sleep/wakefulness cycle. J Neurol (2012) 0.78
Achieving sleep state during EEG in children; sequence of activation procedures. Clin Neurophysiol (2006) 0.78
Prevalence of pediatric periodic leg movements of sleep after initiation of PAP therapy. Pediatr Pulmonol (2013) 0.78
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. Am J Med Genet A (2010) 0.77
Detection of cortical arousals in children using frontal EEG leads in addition to conventional central leads. J Clin Sleep Med (2006) 0.77
Sleep deprivation and neurobehavioral functioning in children. Int J Psychophysiol (2013) 0.77
Tacrolimus induced subacute cerebellar ataxia. Eur J Paediatr Neurol (2006) 0.77
Assessment of placental and maternal stress responses in patients with pregnancy related complications via monitoring of heat shock protein mRNA levels. Mol Biol Rep (2014) 0.77
Sleep-wake patterns of seizures in children with lesional epilepsy. Pediatr Neurol (2011) 0.77
Circadian patterns of generalized tonic-clonic evolutions in pediatric epilepsy patients. Seizure (2012) 0.77
Localization of pediatric seizure semiology. Clin Neurophysiol (2011) 0.77
A transcript coding for a partially duplicated form of α7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Folia Neuropathol (2013) 0.77
Pattern of adverse events of antiepileptic drugs: results of the aESCAPE study in Poland. Arch Med Sci (2013) 0.77
Investigation of substituted 6-aminohexanoates as skin penetration enhancers. Bioorg Med Chem (2011) 0.77
Searching for marker of REM sleep behavior disorder: submentalis muscle EMG amplitude analysis during sleep in patients with narcolepsy/cataplexy. Sleep (2009) 0.76
Genetic and clinical features of patients with Gaucher disease in Hungary. Blood Cells Mol Dis (2007) 0.76
Selective serotonin reuptake inhibitors and periodic limb movements of sleep. Pediatr Neurol (2011) 0.76
Diurnal and sleep/wake patterns of epileptic spasms in different age groups. Epilepsia (2012) 0.76
Sleep study abnormalities in children with attention deficit hyperactivity disorder. Pediatr Neurol (2009) 0.76
Efficacy and safety of lamotrigine monotherapy in children and adolescents with epilepsy. Eur J Paediatr Neurol (2008) 0.76
Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype. Epilepsy Behav (2010) 0.75
An uncommon case of pediatric neurobrucellosis associated with intracranial hypertension. Case Rep Infect Dis (2012) 0.75