Neuropediatrics

Papers
(The TQCC of Neuropediatrics 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 2022-01-01 to 2026-01-01.)
ArticleCitations
Hypercapnia: An Added Culprit in Gray Matter Injury in Preterm Neonates31
Menkes Disease: Clinical Presentation and Imaging Characteristics21
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings20
Whole Genome Methylation Profiling to Enhance Diagnostic Yield in Neurodevelopmental Disorders16
Minimally Invasive Epilepsy Surgery15
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review15
Benign Acute Childhood Myositis: Our Experience on Clinical Evaluation14
Structural Changes in the Corticospinal Tract of the Contralesional Hemisphere following Perinatal Lesions10
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 210
Ocular Myasthenia: It's Worth a Second Look10
Prevalence of Elementary Visuo-spatial Perception Deficit in Children with Neurodevelopmental Disorders10
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study9
Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex8
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Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level8
MOG Antibody Disease Presenting as Multiphasic Disseminated Encephalomyelitis8
Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience8
Long-Term Comparative Efficacy and Safety of Risdiplam versus Nusinersen in Children with Type 1 Spinal Muscular Atrophy (SMA)7
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany7
Benefits of Repetitive Neuromuscular Magnetic Stimulation in Pediatric Posttraumatic Headache7
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature7
Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome6
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Examination of the Peripheral Nervous System in Children with Spinal Muscular Atrophy: A High-Resolution Ultrasound Study6
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives6
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation6
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders6
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Effect of Sole Height Adjustments for Leg Length Discrepancies on Gait Deviations and Asymmetries in Children with Unilateral Spastic Cerebral Palsy5
Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan5
Novel, Rare, and Underdetected: Antineuronal Antibodies in Pediatric Autoimmune Movement Disorders5
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study5
5
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic5
Long-Term Follow-up of Children with Pre- and (Post) Pubertal MS5
Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study5
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Impairments of Balance and Sensory Integration in Children with Headache Disorders5
Reply to Letter to the Editor: One Size Doesn't Fit All: Four Score in the Pediatric ICU4
Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom4
Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report4
Givinostat in DMD: Results of the EPIDYS Study with Particular Attention to NSAA4
A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder4
Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease4
Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency4
Potentially Life-Threatening Interaction between Opioids and Intrathecal Baclofen in Individuals with a Childhood-Onset Neurological Disorder: A Case Series and Review of the Literature4
Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note4
Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome4
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Childhood Stroke as a Challenging Complication in Severe Systemic Mycosis4
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Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain4
Weathering the Storm: Early Intervention for GAD65 Antibody-Mediated Encephalitis with Drug-Resistant Autoimmune Epilepsy4
Feasibility of an Instrumented Gait Testing Protocol for Children after Mild Traumatic Brain Injury4
Spectrum of Disease Severity in Canavan Leukodystrophy3
Precision Medicine in Angelman Syndrome3
Seroprevalence of MOG and AQP4 Antibodies and Outcomes in an Indian Cohort of Pediatric Acquired Demyelinating Syndromes3
Elevated TNF-α Levels and CD4 Cell Counts in the Blood of Children with Tuberous Sclerosis Complex (TSC)-Related Refractory Epilepsy3
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant3
Post-authorization Safety Study (PASS) of Pediatric Patients Initiating Selumetinib Treatment for Symptomatic Inoperable Plexiform Neurofibromas (PNs) Associated with Neurofibromatosis Type 1 (NF1)3
3
Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials3
Regional White Matter Hypertrophy Follows Cerebral ABCD1 Gene Expression Pattern in Asymptomatic X-Linked Adrenoleukodystrophy3
Colloid Cyst Causing Massive Headache Attacks3
Seizures and Movement Disorders in Patients with CLN2 Disease Treated with Cerliponase Alfa in the Real-World Setting3
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies3
Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review3
Acute Unilateral Mydriasis in a Previously Healthy 10-Year-Old Girl: Differential Diagnoses3
Modeling Developmental and Epileptic Encephalopathies in Drosophila melanogaster as a Rapid In Vivo Assay System for Antiseizure Medication Response and Neurodevelopment3
Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study3
Reflex and Spontaneous Movements in Pediatric Patients with Brain Death3
Type 1 Interferon Activation in Mitochondrial Disease: A Possible “New” Pathomechanism3
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review3
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?3
3
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection2
Children with Vision Impairment2
Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence2
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence2
Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series2
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy2
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Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation2
Eladocagene Exuparvovec Gene Therapy Increases Bayley-III Cognitive and Language Raw Scores in Patients with Aromatic ʟ-Amino Acid Decarboxylase Deficiency2
A Novel Digital Biomarker on the Impact of Glucose Fluctuations on Nerve Conduction Velocity in Pediatric T1D2
NfL as a Biomarker in Monitoring Pediatric MS Patients2
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome2
Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation2
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures2
Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature2
Konzept eines N of 1 Therapieprotokolls zur standardisierten Erfassung individueller Heilversuche bei Patienten mit genetischen Entwicklungsstörungen2
Introducing a New Editor-in-Chief and Thanks to Reviewers and Authors2
Exploring Molecular Pathways Underlying Epilepsy Development in Intellectual Disability2
Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants2
Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study2
Roifman Syndrome Is a Rare but Important Differential Diagnosis in Patients Suspected to Have CDG Syndrome2
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes2
Quivering Chin Syndrome2
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency2
One Size Doesn't Fit All: Four Score in the Pediatric ICU2
Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes2
Expanding the Spectrum of NUBPL-Related Leukodystrophy2
The Role of the Three-Dimensional Edge-Enhancing Gradient Echo Sequence at 3T MRI in the Detection of Focal Cortical Dysplasia: A Technical Case Report and Literature Review2
Long-Term Outcome of Gene Therapy for MLD and Prospective Newborn Screening: The Tübingen Experience2
Inheritance of Primary Headache in Children and Adolescents—A Scoping Review2
Effects of GPi-DBS on Speech and Swallowing in Pediatric Patients with Dystonia2
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG2
MRI Imaging in 15 Children with Acute Flaccid Myelitis, Baseline and Follow-Up1
Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia1
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Arterial Ischemic Stroke in Adolescents and Young Adults: Results of an European Cohort (GER-FR-NL)1
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report1
Metabolic Neuropathies in Children and Adolescents with LCHAD/MTP Deficiency: Insights from In Vivo Magnetic Resonance Neurography1
Tazarotene and Bexarotene Show Efficacy as In Vitro Therapeutic Agents in Multiple Sulfatase Deficiency1
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature1
Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature1
IgM Synthesis and MRZ Reaction Are Not Associated with Factors Predicting a Poor Prognosis in Pediatric MS1
Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency1
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Sleep Macro- and Microstructure Is Altered in Children with Epilepsy1
Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study1
A Novel X-linked Mutation of CACNA1F Gene in Two Male Siblings Presenting Nystagmus1
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism1
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome1
Thanks to Reviewers and Authors1
Pulsatile Dexamethasone Therapy Reduces Epileptic Burden and Improves Sleep Physiology in Children with Genetic Drug-Resistant Epilepsy1
EBV and Concomitant Acute Motor and Sensory Axonal Neuropathy in a Healthy 15-Year-Old Female1
Compulsive Respiratory Stereotypies in a Patient with SYNGAP1 Mutation1
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients1
Efficacy and Tolerability of Lacosamide in Pediatric and Young Adult Epilepsy Patients with Severe Motor and Intellectual Disabilities1
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation1
Influence of Fingolimod Treatment on Disease Outcome and MRI Brain Volumes in Children with CLN 31
The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine1
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The Benefit of Genome Sequencing in Neurodevelopmental Disorders1
Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–20191
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Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis1
Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques1
Liquid Biopsy: Short-Cut to Identify Mosaic Causes of Hemihypertrophic Overgrowth1
Five Years Follow-up of Opsoclonus–Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children1
Early and Aggressive Treatment May Modify Anti-Hu Associated Encephalitis Prognosis1
Electroclinical Features of Epilepsy in Kleefstra Syndrome1
Ongoing Experiences with Repetitive Neuromuscular Magnetic Stimulation in Children and Adolescents with Headache Disorders1
Multiparametric Investigation of Network-Reorganization Promoted by Repetitive Neuromuscular Magnetic Stimulation Applied to the Anterior Tibial Muscle1
Tracking Memory Function in Migraine: Preliminary Analyses in Adults1
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center1
Impact of Tourette Syndrome on Education1
Redness in a Squinted Eye: Is that a Clue?1
Pain in Children and Adolescents with Cerebral Palsy: A Cross-sectional Survey Study1
Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay1
Primary Headache Types and Quality of Life in Children with Epilepsy1
Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes1
Presence of a Positive MRZ Reaction Improves the Predictions of Multiple Sclerosis in Children with Optic Neuritis1
Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant1
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases1
The Neonatal Presentation of BRAT1-Related Neonatal Rigidity and Multifocal Seizure Syndrome1
MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis1
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy1
Biallelic Variants in OAS2 with Neurodevelopmental Disorders, Skeletal Dysplasia, and Immunodeficiency1
Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome1
Frequency and Spectrum of Psychiatric Symptoms in Children with NMDA-R Encephalitis1
49th Annual Conference of the Society for Neuropediatrics1
Anti-CD20 versus Dimethyl Fumarate as First-Line Treatment for Pediatric Multiple Sclerosis: A Retrospective Cohort Study1
Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum1
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