European Journal of Paediatric Neurology

Papers
(The median citation count of European Journal of Paediatric Neurology is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
E.U. paediatric MOG consortium consensus: Part 1 – Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders97
E.U. paediatric MOG consortium consensus: Part 5 – Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders64
Severe Neurological Impairment: A delphi consensus-based definition57
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic rev52
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients37
E.U. paediatric MOG consortium consensus: Part 2 – Neuroimaging features of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders37
E.U. paediatric MOG consortium consensus: Part 4 – Outcome of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders34
Children and young adults with spinal muscular atrophy treated with nusinersen32
Acute encephalitis in pediatric multisystem inflammatory syndrome associated with COVID-1930
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects30
Lissencephaly: Update on diagnostics and clinical management29
Melatonin for neuroprotection in neonatal encephalopathy: A systematic review & meta-analysis of clinical trials29
Genetic causes underlying grey matter heterotopia26
Evidence-based interventions for children and adolescents with fetal alcohol spectrum disorders – A systematic review26
CDKL5 deficiency disorder in males: Five new variants and review of the literature25
E.U. paediatric MOG consortium consensus: Part 3 – Biomarkers of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders24
A practical approach to prenatal diagnosis of malformations of cortical development24
Extra-uterine growth restriction in preterm infants: Neurodevelopmental outcomes according to different definitions22
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?20
Amplitude and stride-to-stride variability of muscle activity during Lokomat guided walking and treadmill walking in children with cerebral palsy19
Neurological presentations and cognitive outcome in Sturge-Weber syndrome19
Revision of the diagnostic criteria of alternating hemiplegia of childhood19
Neurologic manifestations in children with COVID-19 from a tertiary center in Turkey and literature review19
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS)18
Clinical phenotypes of infantile onset CACNA1A-related disorder17
Nusinersen does not improve lung function in a cohort of children with spinal muscular atrophy – A single-center retrospective study17
Usability and inter-rater reliability of the NeuroMotion app: A tool in General Movements Assessments16
Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy16
The bottom-up approach: Non-invasive peripheral neurostimulation methods to treat migraine: A scoping review from the child neurologist's perspective16
The myth of vaccination and autism spectrum15
Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings15
Continuing decline in the prevalence of cerebral palsy in Denmark for birth years 2008–201315
The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants14
Clinical features of paediatric and adult autoimmune encephalitis: A multicenter sample14
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort14
Ocrelizumab in pediatric multiple sclerosis14
Epidemiology of traumatic brain injury in children 15 years and younger in South-Eastern Norway in 2015–16. Implications for prevention and follow-up needs14
Clinical outcomes of pediatric Anti-NMDA receptor encephalitis14
Long-term cardiovascular safety of fenfluramine in patients with Dravet syndrome treated for up to 3 years: Findings from serial echocardiographic assessments14
A comparison of the early motor repertoire of very preterm infants and term infants14
The phenotypic variability and natural history of NARS2 associated disease13
Motor outcome after perinatal stroke and early prediction of unilateral spastic cerebral palsy13
A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles13
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study13
Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children13
Is there a relationship between socioeconomic factors and prevalence, adherence and outcome in childhood epilepsy? A systematic scoping review12
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany12
Pediatric recurrent acute necrotizing encephalomyelitis, RANBP2 genotype and Sars-CoV-2 infection: Diagnosis, pathogenesis and targeted treatments from a case study12
Data-driven historical characterization of epilepsy-associated genes12
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors12
Diagnosis of pediatric anti-NMDAR encephalitis at the onset: A clinical challenge12
Change in cross-sectional area of the median nerve with age in neonates, infants and children analyzed by high-resolution ultrasound imaging11
Deep brain stimulation in the management of paediatric neuropsychiatric conditions: Current evidence and future directions11
Gait phenotype in Batten disease: A marker of disease progression10
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants10
Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association10
Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy10
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen10
Melatonin usage in children and young adults, a registry-based cohort study10
Neonatal hypoxic-ischaemic encephalopathy: Motor impairment beyond cerebral palsy10
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress10
Adaptive skills and mental health in children and adolescents with neuromuscular diseases10
Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype9
Posterior Reversible Encephalopathy Syndrome in infants and young children9
Quality of life and neurological disability in children and young people with ataxia telangiectasia9
Rituximab in juvenile myasthenia gravis-an international cohort study and literature review9
The impact of instrumented gait analysis on decision-making in the interprofessional management of cerebral palsy: A scoping review9
CASK related disorder: Epilepsy and developmental outcome9
Developmental neurobiology of cerebellar and Basal Ganglia connections9
Relationship between resting-state fMRI functional connectivity with motor and language outcome after perinatal brain injury – A systematic review9
Instrumented classification of patients with early onset ataxia or developmental coordination disorder and healthy control children combining information from three upper limb SARA tests9
MECP2-related conditions in males: A systematic literature review and 8 additional cases9
Functional outcomes of children with dyskinetic cerebral palsy depend on etiology and gestational age9
Neurological disorders encountered in a pediatric emergency department9
Effect of age, cerebral infarcts, vasculopathy and haemoglobin on cognitive function, in Tanzanian children with sickle cell anaemia8
Dystonia assessment in children with cerebral palsy and periventricular leukomalacia8
Safety and recommendations for vaccinations of children with inborn errors of metabolism8
Endocrine and metabolic aspects of narcolepsy type 1 in children8
Preoperative clinical symptomatology and stroke burden in pediatric moyamoya angiopathy: Defining associated risk variables8
Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers8
Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood8
Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy7
Normal intellectual skills in patients with Rhombencephalosynapsis7
A Decision for Life – Treatment decisions in newly diagnosed families with spinal muscular atrophy (SMA)7
Genetic testing in children enrolled in epilepsy surgery program. A real-life study7
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature7
Rehabilitation in childhood-onset hyperkinetic movement disorders including dystonia: Treatment change in outcomes across the ICF and feasibility of outcomes for full trial evaluation7
Migraine and epilepsy: Social cognition skills in pediatric population7
Neonatal neurological examination in a resource-limited setting: What defines normal?7
Altered anterior insula functional connectivity in adolescent and young women with endometriosis-associated pain: Pilot resting-state fMRI study7
Dystonia and choreoathetosis presence and severity in relation to powered wheelchair mobility performance in children and youth with dyskinetic cerebral palsy7
Pediatric vestibular migraine: Diagnosis according to ICHD-3 criteria and the effectiveness of short-term CH prophylaxis7
Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia7
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample7
Crisis of confidence in vaccination and the role of social media7
Prognostic value of brain abnormalities for cognitive functioning in cerebral palsy: A prospective cohort study6
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients6
The spectrum of acute leukoencephalopathy with restricted diffusion (ALERD): A case series and review of literature6
Prevalence of cerebral palsy and factors associated with cerebral palsy subtype: A population-based study in Belgium6
Repetitive neuromuscular magnetic stimulation in children with headache6
Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment6
A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5′-phosphate6
Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder6
Sleep in children with refractory epilepsy and epileptic encephalopathies: A systematic review of literature6
Mineralizing angiopathy with basal ganglia stroke after minor head trauma; a clinical profile and follow up study of a large series of paediatric patients from North India6
SCN1A-related epilepsy with recessive inheritance: Two further families6
Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants6
Development of muscle tone impairments in high-risk infants: Associations with cerebral palsy and cystic periventricular leukomalacia6
Endovascular and thrombolytic treatment eligibility in childhood arterial ischemic stroke6
Clinical characteristics of paediatric Hashimoto's encephalopathy6
Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden6
Effects of antiseizure monotherapy on visuospatial memory in pediatric age6
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype6
Intranasal dexmedetomidine vs oral triclofos sodium for sedation of children with autism undergoing electroencephalograms6
Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study6
CCL2/MCP-1, interleukin-8, and fractalkine/CXC3CL1: Potential biomarkers of epileptogenesis and pharmacoresistance in childhood epilepsy6
Clinical features and outcomes of opsoclonus myoclonus ataxia syndrome6
Epidemiology of paediatric moderate and severe traumatic brain injury in the Netherlands6
Fenfluramine responder analyses and numbers needed to treat: Translating epilepsy trial data into clinical practice6
3T MRI signal intensity profiles and thicknesses of transient zones in human fetal brain at mid-gestation6
Cognitive, academic, executive and psychological functioning in children with spastic motor type cerebral palsy: Influence of extent, location, and laterality of brain lesions6
Long-term outcomes of very-low-birth-weight and low-birth-weight preterm newborns with neonatal seizures: A single-center perspective5
Treatments of paediatric multiple sclerosis: Efficacy and tolerance in a longitudinal follow-up study5
Standardized motor assessments before the age of five predicting school-aged motor outcome including DCD: A systematic review5
Migraine in childhood: Gender differences5
The use of intrathecal baclofen for management of spasticity in hereditary spastic paraparesis: A case series5
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype5
Management and results of epilepsy surgery associated with acyclovir prophylaxis in four pediatric patients with drug-resistant epilepsy due to herpetic encephalitis and review of the literature5
Surgical complications of intrathecal baclofen in children: A single centre, 20-year retrospective cohort study5
Investigations in children with seizures visiting a pediatric emergency department: A monocenter study5
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period5
Thiamine-responsive, life-threatening, pulmonary hypertensive crisis with encephalopathy in young infants: A case series5
Age-dependent characteristics and prognostic factors of pediatric anti-N-methyl-d-aspartate receptor encephalitis in a Chinese single-center study5
Abnormal heart rate variability at school age in survivors of neonatal hypoxic-ischemic encephalopathy managed with therapeutic hypothermia5
Guardians of the epilepsy genome5
The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment5
Giant pattern VEPs in children5
Tremor-like subcortical myoclonus in STXBP1 encephalopathy5
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially5
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study5
Functional brain maturation and sleep organisation in neonates with congenital heart disease5
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations4
Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy4
Impact of epilepsy on learning and behaviour and needed supports: Views of children, parents and school staff4
Approach to a sleepy child: Diagnosis and treatment of excessive daytime sleepiness in children and adolescents4
Benefits, safety and outcomes of long-term video EEG monitoring in pediatric patients4
The long-term burden of congenital cytomegalovirus: Hospitalisation and mortality in a population-based matched cohort study4
Impact of a pediatric posterior fossa tumor and its treatments on motor procedural learning4
Efficacy and tolerability of Melatonin vs Triclofos to achieve sleep for pediatric electroencephalography: A single blinded randomized controlled trial4
Deep brain stimulation-induced neuroprotection: A critical appraisal4
A novel family illustrating the mild phenotypic spectrum of TUBB2B variants4
Mental health and behaviour in children with dystonia: Anxiety, challenging behaviour and the relationship to pain and self-esteem4
Predicting respiratory failure and outcome in pediatric Guillain-Barré syndrome4
Newer disease modifying treatments in pediatric onset multiple sclerosis: Experience from a single center4
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 14
Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations4
Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy4
“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy4
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy4
Visual-processing deficits in children with neurofibromatosis type 1: A clinical marker of reading difficulties4
Basal ganglia: From the bench to the bed4
Application of the Scale for Assessment and Rating of Ataxia in toddlers4
Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay4
Monitoring the frequency and duration of epileptic seizures: “A journey through time”4
Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome4
Temporal trends in intraventricular hemorrhage in preterm infants: A Brazilian multicenter cohort4
Exploring the connections between basal ganglia and cortex revealed by transcranial magnetic stimulation, evoked potential and deep brain stimulation in dystonia4
Serum Neurofilament light chain (NfL) levels in children with and without neurologic diseases4
Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy4
Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria4
Associations between muscle morphology and spasticity in children with spastic cerebral palsy4
Vaccination and childhood epilepsies4
An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study3
May intraoperative detection of stereotactically inserted intracerebral electrodes increase precision of resective epilepsy surgery?3
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature3
Monocentric retrospective clinical outcome in a group of 13 patients with opsoclonus myoclonus syndrome, proposal of diagnostic algorithm and review of the literature3
Unmet health care needs over the first 2 years after pediatric traumatic brain injury3
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families3
Acute strabismus in neurological emergencies of childhood: A retrospective, single-centre study3
Epilepsy surgery in patients with hypothalamic hamartomas – Population-based two-year and long-term outcomes3
The usefulness of visual evoked potentials in the assessment of the pediatric multiple sclerosis3
Cognitive profiles in pediatric unilobar vs. multilobar epilepsy3
Sonographic evaluations of the skeletal muscles in patients with Pompe disease3
Deep Brain Stimulation in childhood-onset dystonia due to brain pathology. A long-term study3
Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes3
Is cannabidiol worth a trial in Rasmussen encephalitis?3
Sacrificing one visual hemifield during pediatric epilepsy surgery: Effects on visual search3
Vaccination in acute immune-mediated/inflammatory disorders of the central nervous system3
Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial3
Post traumatic cerebral sinovenous thrombosis in children: A retrospective and multicenter study3
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease3
The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy3
Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother3
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management3
Effect of intramuscular ACTH versus oral prednisolone on the developmental trajectories of children with West syndrome over 24 months: A randomised control study3
Cognitive development after perinatal unilateral infarctions: No evidence for preferential sparing of verbal functions3
Assessing the needs of caregivers of children and adolescents with fetal alcohol spectrum disorders: Results from a survey among families and professionals in Germany3
Clinical and radiological findings of posterior reversible encephalopathy syndrome in children: About 16 children hospitalized in the pediatric department of a Tunisian tertiary care hospital3
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice3
Is ketogenic diet a ‘precision medicine’? Recent developments and future challenges3
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome3
Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes3
Exploring demographic, medical, and developmental determinants of adaptive behaviour in children with hemiplegic cerebral palsy3
Children with cavernous malformations of the central nervous system3
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist3
Pediatric acute flaccid myelitis: Evaluation of diagnostic criteria and differentiation from other causes of acute flaccid paralysis3
Dystonia during hand activity in children with spastic unilateral cerebral palsy, an observational study3
Neurological involvement in secondary hemophagocytic lymphohistiocytosis in children3
Outcome measurement instruments in Rett syndrome: A systematic review3
Clinical outcomes and Anti-MOG antibodies in pediatric optic neuritis: A prospective observational study2
Quality of life in ataxia-telangiectasia2
Atypical knee jerk responses in high-risk children: A longitudinal EMG-study2
Participation after childhood stroke: Is there a relationship with lesion size, motor function and manual ability?2
Hypothalamic-pituitary dysfunction in alternating hemiplegia of childhood2
The kynurenine pathway of tryptophan metabolism in abdominal migraine in children – A therapeutic potential?2
The pathogenetic basis for a disease continuum in early- and late-onset ataxia-dystonia supports a unified genetic diagnostic approach2
Long term outcome in non-multiple sclerosis paediatric acquired demyelinating syndromes2
Pediatric Neurotuberculosis: A cases series and review of the literature2
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice2
Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia2
Opioid analgesia and temperature regulation are associated with EEG background activity and MRI outcomes in neonates with mild-to-moderate hypoxic-ischemic encephalopathy undergoing therapeutic hypoth2
Safety and feasibility of transcranial direct current stimulation stratified by corticospinal organization in children with hemiparesis2
Comparison of clinical characteristics between cluster and isolated seizures associated with benign convulsions with mild gastroenteritis2
Mental health and behavioral function in children with neuromuscular disorders2
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants2
Neurodevelopmental outcome of neonatal seizures: A longitudinal study2
Effects of thalamic and basal ganglia deep brain stimulation on language-related functions – Conceptual and clinical considerations2
Validity of an early parent-report questionnaire for language disorder in very preterm children from 2 to 10 years of age2
Super-refractory status epilepticus (SRSE): A case series of 22 pediatric patients2
2024 update: European consensus statement on gene therapy for spinal muscular atrophy2
Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group2
Metachromatic leukodystrophy: To screen or not to screen?2
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant2
Lesion size and long-term cognitive outcome after pediatric stroke: A comparison between two techniques to assess lesion size2
Relationship between 4-month functional brain network topology and 24-month neurodevelopmental outcome in children with congenital heart disease2
Specific characteristics and current diagnostic and treatment modalities performance of super refractory status epilepticus in children: A comparative study2
Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 12
Validation of the 2023 international diagnostic criteria for MOGAD in a pediatric cohort2
School performance and psychiatric comorbidity in childhood absence epilepsy: A Danish cohort study2
Harnessing cognitive strategy use for functional problems and proposed underlying mechanisms in childhood-onset dystonia2
Magnetic resonance imaging of the fetal central nervous system: Timing and consistency between pre- and postnatal diagnoses2
Utility of genetic testing in children with leukodystrophy2
Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases2
Dystonia in children with acquired brain injury2
Uncommon use of intermittent glucose administration for infrequent non-epileptic paroxysmal events in GLUT1-DS2
Phase IV PROVE study: Perampanel in real-world clinical care of pediatric patients with epilepsy2
Pain and health-related quality of life in Duchenne muscular dystrophy: A multiple mediator analysis2
Verbal learning and memory in youth with neurofibromatosis type 1 and plexiform neurofibromas: Relationships with disease severity2
Identification of PMD subgroups using a myelination score for PMD2
Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital2
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