Neuropediatrics

Article	Citations
Menkes Disease: Clinical Presentation and Imaging Characteristics	30
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	20
Minimally Invasive Epilepsy Surgery	18
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review	16
Benign Acute Childhood Myositis: Our Experience on Clinical Evaluation	15
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2	15
Hypercapnia: An Added Culprit in Gray Matter Injury in Preterm Neonates	14
Prevalence of Elementary Visuo-spatial Perception Deficit in Children with Neurodevelopmental Disorders	13
Ocular Myasthenia: It's Worth a Second Look	10
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option	10
Whole Genome Methylation Profiling to Enhance Diagnostic Yield in Neurodevelopmental Disorders	9
The Expected Efficacy of Sensory Afferent Electrostimulation on Hand Use Asymmetry in Children with Hemiparesis: An Accelerometer-Based Everyday Life Assessment	9
Structural Changes in the Corticospinal Tract of the Contralesional Hemisphere following Perinatal Lesions	9
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study	8
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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives	8
Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex	8
Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level	8
Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome	8
MOG Antibody Disease Presenting as Multiphasic Disseminated Encephalomyelitis	8
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany	8
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	8
Long-Term Comparative Efficacy and Safety of Risdiplam versus Nusinersen in Children with Type 1 Spinal Muscular Atrophy (SMA)	7
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders	7
Benefits of Repetitive Neuromuscular Magnetic Stimulation in Pediatric Posttraumatic Headache	7

Examination of the Peripheral Nervous System in Children with Spinal Muscular Atrophy: A High-Resolution Ultrasound Study	7
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation	6
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Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan	6
Intracranial Sleep Spindles and High-Frequency Oscillations in Children with Focal Epilepsy and Developmental Delay	6
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Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience	6
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Long-Term Follow-up of Children with Pre- and (Post) Pubertal MS	5
Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study	5
Effect of Sole Height Adjustments for Leg Length Discrepancies on Gait Deviations and Asymmetries in Children with Unilateral Spastic Cerebral Palsy	5
Childhood Stroke as a Challenging Complication in Severe Systemic Mycosis	5
A Novel PEX13 Variant Causes Zellweger Spectrum Disorder with Mild/Intermediate Phenotype and Cystic Leukoencephalopathy	5
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study	5
Impairments of Balance and Sensory Integration in Children with Headache Disorders	5
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	5
Novel, Rare, and Underdetected: Antineuronal Antibodies in Pediatric Autoimmune Movement Disorders	5
Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom	4
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Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain	4
Weathering the Storm: Early Intervention for GAD65 Antibody-Mediated Encephalitis with Drug-Resistant Autoimmune Epilepsy	4
Feasibility of an Instrumented Gait Testing Protocol for Children after Mild Traumatic Brain Injury	4
Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency	4
Potentially Life-Threatening Interaction between Opioids and Intrathecal Baclofen in Individuals with a Childhood-Onset Neurological Disorder: A Case Series and Review of the Literature	4
Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note	4
Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review	4
Givinostat in DMD: Results of the EPIDYS Study with Particular Attention to NSAA	4
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review	4
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Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease	4
Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report	4
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?	4
Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome	4
Elevated TNF-α Levels and CD4 Cell Counts in the Blood of Children with Tuberous Sclerosis Complex (TSC)-Related Refractory Epilepsy	3
Case Report (+Video): Glycine Receptor Antibody-Associated Autoimmune Encephalitis in a 16-Year-Old Male	3
Colloid Cyst Causing Massive Headache Attacks	3
Post-authorization Safety Study (PASS) of Pediatric Patients Initiating Selumetinib Treatment for Symptomatic Inoperable Plexiform Neurofibromas (PNs) Associated with Neurofibromatosis Type 1 (NF1)	3
Seizures and Movement Disorders in Patients with CLN2 Disease Treated with Cerliponase Alfa in the Real-World Setting	3
Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials	3
Precision Medicine in Angelman Syndrome	3
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Somatic KRASG12V-Variant as a Driver for Localized Hypertrophic Neuropathy Mimicking Plexiform Neurofibroma	3
Seroprevalence of MOG and AQP4 Antibodies and Outcomes in an Indian Cohort of Pediatric Acquired Demyelinating Syndromes	3
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A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder	3
Type 1 Interferon Activation in Mitochondrial Disease: A Possible “New” Pathomechanism	3
Acute Unilateral Mydriasis in a Previously Healthy 10-Year-Old Girl: Differential Diagnoses	3
Reflex and Spontaneous Movements in Pediatric Patients with Brain Death	3
Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study	3

Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies	3
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant	3
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes	2
Regional White Matter Hypertrophy Follows Cerebral ABCD1 Gene Expression Pattern in Asymptomatic X-Linked Adrenoleukodystrophy	2
NfL as a Biomarker in Monitoring Pediatric MS Patients	2
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 Therapy	2
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Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants	2
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease	2
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency	2
Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study	2
Test–Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (GOAL) Questionnaire for Children with Ambulatory Cerebral Palsy	2
What Goals and Needs do Adolescents and Young Adults Identify for Rehabilitation After Traumatic Brain Injury? A Quantitative Online Survey	2
“Warm-Up”-Like Phenomen in Andersen–Tawil-Syndrome: A Case Report and Comparative Analysis to Myotonica Congenita	2
Modeling Developmental and Epileptic Encephalopathies in Drosophila melanogaster as a Rapid In Vivo Assay System for Antiseizure Medication Response and Neurodevelopment	2
Understanding Astrocyte Reactivity in Perinatal White Matter Injury and Its Role in Disease Pathophysiology	2
Inheritance of Primary Headache in Children and Adolescents—A Scoping Review	2
Introducing a New Editor-in-Chief and Thanks to Reviewers and Authors	2
Eladocagene Exuparvovec Gene Therapy Increases Bayley-III Cognitive and Language Raw Scores in Patients with Aromatic ʟ-Amino Acid Decarboxylase Deficiency	2
Long-Term Outcome of Gene Therapy for MLD and Prospective Newborn Screening: The Tübingen Experience	2
Palliative GPi-DBS for Severe Dystonia in SCN2A-Related Developmental and Epileptic Encephalopathy	2
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence	2
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG	2
Effects of GPi-DBS on Speech and Swallowing in Pediatric Patients with Dystonia	2
Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence	2
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome	2
Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation	2
A Child Presenting with a Glasgow Coma Scale Score of 13: Mild or Moderate Traumatic Brain Injury? A Narrative Review	2
Spectrum of Disease Severity in Canavan Leukodystrophy	2
From Theory to Action: Raising Awareness for Brain Health Through the #BrainHealthChallenge2025	2
Roifman Syndrome Is a Rare but Important Differential Diagnosis in Patients Suspected to Have CDG Syndrome	2
Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes	2
A Contactless Motion Tracking Pipeline to Quantify Upper Limb Movements of Children with Spastic Hemiparesis	2
Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation	2
Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series	2
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures	2
Children with Vision Impairment	2
A Novel Digital Biomarker on the Impact of Glucose Fluctuations on Nerve Conduction Velocity in Pediatric T1D	2
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection	2
Quivering Chin Syndrome	2
Myopathies in Early Infancy: An Overview and a Case of Early Onset Anti-NXP2-Positive Juvenile Dermatomyositis	2
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Efficacy Outcomes from a Phase 3, Randomised, Double-Blind, Placebo-Controlled Study of Fremanezumab for the Preventive Treatment of Episodic Migraine in Children and Adolescents	1
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Pulsatile Dexamethasone Therapy Reduces Epileptic Burden and Improves Sleep Physiology in Children with Genetic Drug-Resistant Epilepsy	1
The Neonatal Presentation of BRAT1-Related Neonatal Rigidity and Multifocal Seizure Syndrome	1
Frequency and Spectrum of Psychiatric Symptoms in Children with NMDA-R Encephalitis	1
Arterial Ischemic Stroke in Adolescents and Young Adults: Results of an European Cohort (GER-FR-NL)	1
Liquid Biopsy: Short-Cut to Identify Mosaic Causes of Hemihypertrophic Overgrowth	1
A Novel X-linked Mutation of CACNA1F Gene in Two Male Siblings Presenting Nystagmus	1
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation	1
Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant	1
Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes	1
Epilepsy and Sleep in the ATR-X Syndrome	1
Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay	1
Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau–Kleffner Syndrome	1
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center	1
Twenty-Year Trends in Time-to-Diagnosis of Paediatric Ischaemic Stroke in Switzerland	1
Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature	1
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy	1
Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques	1
Epg5 Links Proteotoxic Stress Due to Defective Autophagic Clearance and Epileptogenesis in Drosophila and Vici Syndrome Patients	1
Efficacy and Safety of Trofinetide for the Treatment of Rett Syndrome: Results from the Pivotal Phase 3 LAVENDER Study	1
Ongoing Experiences with Repetitive Neuromuscular Magnetic Stimulation in Children and Adolescents with Headache Disorders	1
Multiparametric Investigation of Network-Reorganization Promoted by Repetitive Neuromuscular Magnetic Stimulation Applied to the Anterior Tibial Muscle	1
Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency	1
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Konzept eines N of 1 Therapieprotokolls zur standardisierten Erfassung individueller Heilversuche bei Patienten mit genetischen Entwicklungsstörungen	1
Biallelic Variants in OAS2 with Neurodevelopmental Disorders, Skeletal Dysplasia, and Immunodeficiency	1
EEG Changes Prior to Onset of Epilepsy: A Potential Early Biomarker to Monitor Disease Progression in CLN3 Disease	1
MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis	1
Fluctuating Hyperkinesia and Epileptic Seizures in a Child: Syndrome Spectrum or Two Entities?: An Unsolved Case of an Encephalopathy	1
Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	1
The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine	1
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	1
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature	1
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases	1
Electroclinical Features of Epilepsy in Kleefstra Syndrome	1
Metabolic Neuropathies in Children and Adolescents with LCHAD/MTP Deficiency: Insights from In Vivo Magnetic Resonance Neurography	1
Five Years Follow-up of Opsoclonus–Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children	1

Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study	1
A Case Report of an Infant with De Barsy Syndrome with Intractable Seizures and Severe Gastro-Esophageal Reflux	1
A Rare Complication on the Spot: Tumor-Associated Hemorrhages in Pediatric LGG	1
The Benefit of Genome Sequencing in Neurodevelopmental Disorders	1
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism	1
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 Review	1
Redness in a Squinted Eye: Is that a Clue?	1
Sleep Macro- and Microstructure Is Altered in Children with Epilepsy	1
Early and Aggressive Treatment May Modify Anti-Hu Associated Encephalitis Prognosis	1
How Postural Patterns Change After a Concussion: A Spectral Analysis Approach to Postural Control in Pediatric Patients Throughout Their Recovery from Mild Traumatic Brain Injury	1
One Size Doesn't Fit All: Four Score in the Pediatric ICU	1
Anti-CD20 versus Dimethyl Fumarate as First-Line Treatment for Pediatric Multiple Sclerosis: A Retrospective Cohort Study	1
Expanding the Spectrum of NUBPL-Related Leukodystrophy	1
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome	1
Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia	1
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients	1
Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–2019	1
Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome	1
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy	1
Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum	1