Neuropediatrics

Papers
(The median citation count of Neuropediatrics is 0. 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 2022-08-01 to 2026-08-01.)
ArticleCitations
Whole Genome Methylation Profiling to Enhance Diagnostic Yield in Neurodevelopmental Disorders28
Ocular Myasthenia: It's Worth a Second Look21
Structural Changes in the Corticospinal Tract of the Contralesional Hemisphere following Perinatal Lesions18
Minimally Invasive Epilepsy Surgery17
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review17
A German Translation and Cross-Cultural Comparison of a Mobility Questionnaire (MobQues47) for Ambulant Children and Adolescents with Cerebral Palsy14
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 214
Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex14
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders11
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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives10
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany9
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature9
Long-Term Comparative Efficacy and Safety of Risdiplam versus Nusinersen in Children with Type 1 Spinal Muscular Atrophy (SMA)9
Examination of the Peripheral Nervous System in Children with Spinal Muscular Atrophy: A High-Resolution Ultrasound Study8
Benefits of Repetitive Neuromuscular Magnetic Stimulation in Pediatric Posttraumatic Headache8
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Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome7
Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience7
Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level7
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Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy—DEE947
Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease7
Impairments of Balance and Sensory Integration in Children with Headache Disorders6
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Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study6
Novel, Rare, and Underdetected: Antineuronal Antibodies in Pediatric Autoimmune Movement Disorders6
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study6
Reply to Letter to the Editor: One Size Doesn't Fit All: Four Score in the Pediatric ICU6
Long-Term Follow-up of Children with Pre- and (Post) Pubertal MS6
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Effect of Sole Height Adjustments for Leg Length Discrepancies on Gait Deviations and Asymmetries in Children with Unilateral Spastic Cerebral Palsy6
Childhood Stroke as a Challenging Complication in Severe Systemic Mycosis6
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic6
Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan6
Repetitive Head Movements: An Unusual Subcortical Myoclonus Presentation5
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Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom5
Characteristics and Outcomes of Guillain—Barré Syndrome in Children5
Potentially Life-Threatening Interaction between Opioids and Intrathecal Baclofen in Individuals with a Childhood-Onset Neurological Disorder: A Case Series and Review of the Literature5
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation5
Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease5
Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report4
Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note4
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?4
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
Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review4
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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
Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome4
Seizures and Movement Disorders in Patients with CLN2 Disease Treated with Cerliponase Alfa in the Real-World Setting3
Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study3
Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study3
Acute Unilateral Mydriasis in a Previously Healthy 10-Year-Old Girl: Differential Diagnoses3
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review3
Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials3
Post-authorization Safety Study (PASS) of Pediatric Patients Initiating Selumetinib Treatment for Symptomatic Inoperable Plexiform Neurofibromas (PNs) Associated with Neurofibromatosis Type 1 (NF1)3
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Regional White Matter Hypertrophy Follows Cerebral ABCD1 Gene Expression Pattern in Asymptomatic X-Linked Adrenoleukodystrophy3
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Type 1 Interferon Activation in Mitochondrial Disease: A Possible “New” Pathomechanism3
Precision Medicine in Angelman Syndrome3
Colloid Cyst Causing Massive Headache Attacks3
Spectrum of Disease Severity in Canavan Leukodystrophy3
Elevated TNF-α Levels and CD4 Cell Counts in the Blood of Children with Tuberous Sclerosis Complex (TSC)-Related Refractory Epilepsy3
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies3
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome2
Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study2
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Excessive Laughter in RHOBTB2-Related Neurodevelopmental Disorder2
Roifman Syndrome Is a Rare but Important Differential Diagnosis in Patients Suspected to Have CDG Syndrome2
Long-Term Outcome of Gene Therapy for MLD and Prospective Newborn Screening: The Tübingen Experience2
Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence2
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency2
Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease2
Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation2
Modeling Developmental and Epileptic Encephalopathies in Drosophila melanogaster as a Rapid In Vivo Assay System for Antiseizure Medication Response and Neurodevelopment2
The Weeke Score Is an Easy-to-Teach and Reliable System for Hypoxic–Ischemic Encephalopathy Brain Magnetic Resonance Imaging Scoring2
Introducing a New Editor-in-Chief and Thanks to Reviewers and Authors2
Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy2
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
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence2
A Novel Digital Biomarker on the Impact of Glucose Fluctuations on Nerve Conduction Velocity in Pediatric T1D2
Exploring Molecular Pathways Underlying Epilepsy Development in Intellectual Disability2
Quivering Chin Syndrome2
Effects of GPi-DBS on Speech and Swallowing in Pediatric Patients with Dystonia2
Inheritance of Primary Headache in Children and Adolescents—A Scoping Review2
Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes2
Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series2
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG2
Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants2
NfL as a Biomarker in Monitoring Pediatric MS Patients2
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures2
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection2
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes2
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients1
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report1
Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia1
Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome1
Multiparametric Investigation of Network-Reorganization Promoted by Repetitive Neuromuscular Magnetic Stimulation Applied to the Anterior Tibial Muscle1
IgM Synthesis and MRZ Reaction Are Not Associated with Factors Predicting a Poor Prognosis in Pediatric MS1
One Size Doesn't Fit All: Four Score in the Pediatric ICU1
Presence of a Positive MRZ Reaction Improves the Predictions of Multiple Sclerosis in Children with Optic Neuritis1
MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis1
Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay1
Konzept eines N of 1 Therapieprotokolls zur standardisierten Erfassung individueller Heilversuche bei Patienten mit genetischen Entwicklungsstörungen1
Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes1
Biallelic Variants in OAS2 with Neurodevelopmental Disorders, Skeletal Dysplasia, and Immunodeficiency1
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy1
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Influence of Fingolimod Treatment on Disease Outcome and MRI Brain Volumes in Children with CLN 31
Ongoing Experiences with Repetitive Neuromuscular Magnetic Stimulation in Children and Adolescents with Headache Disorders1
EBV and Concomitant Acute Motor and Sensory Axonal Neuropathy in a Healthy 15-Year-Old Female1
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases1
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Redness in a Squinted Eye: Is that a Clue?1
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism1
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation1
Primary Headache Types and Quality of Life in Children with Epilepsy1
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Thanks to Reviewers and Authors1
Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–20191
A Retrospective Analysis of Perinatal Stroke: Hemostasis Abnormalities, Neonatal Seizures, Epilepsy Recurrence, and 2-Year Neurological Outcome1
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis1
Anti-CD20 versus Dimethyl Fumarate as First-Line Treatment for Pediatric Multiple Sclerosis: A Retrospective Cohort Study1
Sleep Macro- and Microstructure Is Altered in Children with Epilepsy1
Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study1
Adult Perspectives on the Long-term Impact of Neonatal Encephalopathy Due to Hypoxia-Ischemia1
Five Years Follow-up of Opsoclonus–Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children1
Metabolic Neuropathies in Children and Adolescents with LCHAD/MTP Deficiency: Insights from In Vivo Magnetic Resonance Neurography1
Hypomyelination of Early Myelinating Brain Structures1
The Benefit of Genome Sequencing in Neurodevelopmental Disorders1
Tracking Memory Function in Migraine: Preliminary Analyses in Adults1
Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature1
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Arterial Ischemic Stroke in Adolescents and Young Adults: Results of an European Cohort (GER-FR-NL)1
Electroclinical Features of Epilepsy in Kleefstra Syndrome1
Pulsatile Dexamethasone Therapy Reduces Epileptic Burden and Improves Sleep Physiology in Children with Genetic Drug-Resistant Epilepsy1
Tazarotene and Bexarotene Show Efficacy as In Vitro Therapeutic Agents in Multiple Sulfatase Deficiency1
Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum1
49th Annual Conference of the Society for Neuropediatrics1
Expanding the Spectrum of NUBPL-Related Leukodystrophy1
Evaluation of an Online Patient Education Program for Children and Young People with ME/CFS and their Parents within the BAYNET FOR MECFS Study1
Frequency and Spectrum of Psychiatric Symptoms in Children with NMDA-R Encephalitis1
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome1
Liquid Biopsy: Short-Cut to Identify Mosaic Causes of Hemihypertrophic Overgrowth1
Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques1
Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature1
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The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine1
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center1
MRI Imaging in 15 Children with Acute Flaccid Myelitis, Baseline and Follow-Up1
Muscular Hyperalgesia in Young Adults with Migraine Is Associated with Headache Attacks0
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Acute Disseminated Encephalomyelitis without MOG Antibodies: Clinical Course and Final Diagnosis0
Frequency of Autoantibodies against the Gray and White Matter in Children with Suspected Encephalitis in the MERIN Study0
Lateral Geniculate Body Involvement and Optic Atrophy in Acute Necrotizing Encephalopathy0
Association Between Head Circumference Growth and Peripheral Nerve Cross-Sectional Area Growth in Infants: A Potential Future Biomarker for Central and Peripheral Nerve Maturation0
2B or Not 2B: Results of the Study 2B in Motion Examining Balance after Mild Traumatic Brain Injury in Children and Adolescents0
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome0
Literature-Based Study of Lesion Distribution and Functional Network Mapping in Dyskinetic Cerebral Palsy0
Electrical Stimulation for Children with Cerebral Palsy: A Meta-analysis for Randomized Controlled Trials0
Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy0
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Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech0
Levetiracetam Dosing Based on Glasgow Coma Scale Scores in Pediatric Traumatic Brain Injury Patients0
Gait Variability in Children with Periventricular Leukomalacia and Perinatal Stroke: A Comparison of Between-Subject Variability0
Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation0
Combined Gelastic and Dacrystic Seizures in a Child with Hypothalamic Hamartoma0
Effect of Modified Constraint-Induced Movement Therapy on Upper Limb Function in Children with Hemiplegic Cerebral Palsy0
LYST-Associated Chediak-Higashi Syndrome: Systematic Review and Reanalysis of Neurological Disorders in 130 Patients0
Outcome and Brain Volume Changes over Time in Children with Autoimmune Encephalitis and MOG Antibodies0
Three Patients of the Early Onset Epileptic Spasms without Hypsarrhythmia0
Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis0
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Management of Critically Ill Children with Acute Necrotizing Encephalitis during an H1N1 Outbreak in a Tertiary Pediatric Hospital: A Series of Three Cases and Literature Review0
Intraventricular Antibiotic Administration for the Treatment of Neonatal Ventriculitis: A Systematic Review0
NEP 50th Annual Meeting of the Society for Neuropediatrics 20250
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases0
Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA)0
Investigation of Optical Genome Mapping Diagnostic Capabilities as a Potential Routine Clinical Test0
Prenatal Diagnosis of VLDLR-associated Cerebellar Hypoplasia via Fetal MRI0
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature0
Comparative Analysis of Full Outline of Unresponsive Score and Glasgow Coma Scale Score for Outcomes Prediction in Children with Impaired Consciousness0
Neurological Outcome in Screened Individuals with LCHAD/MTP Deficiency0
The Impact of “Fear of Falling” on Physical Performance, Balance, and Ambulation in Duchenne Muscular Dystrophy0
INPP4A-Related Genetic and Phenotypic Spectrum and Functional Relevance of Subcellular Targeting of INPP4A Isoforms0
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents0
Evaluating Risk Factors for Lethality in Posterior Reversible Encephalopathy Syndrome following Hematopoietic Stem Cell Transplantation in Pediatric Patients: A Systematic Review and Individual Partic0
Effects of the COVID-19 Pandemic on Access to Education and Social Participation in Children and Adolescents with Duchenne Muscular Dystrophy in Switzerland0
Comprehensive, Multimodal Assessment of the Neck Muscles in Pediatric Headache Disorders0
Nutritional Management in Children and Adolescents with Severe Neurological Impairment—Who Cares? A Web-Based Survey Among Pediatric Specialists in Germany0
Botulinum Toxin for Children: A Graphic Summary of 30 Years of Innovation and Practice — From a Single Case to More Than 130,000 Sessions0
Autoimmune Encephalitis, Including Anti-MOG Antibody Related Encephalitis, is Rare in Children with Suspected Meningitis or Encephalitis0
Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia0
Word-Finding Difficulties as a Prominent Early Finding in a Later Diagnosis of Attention Deficit Hyperactivity Disorder0
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency0
Multidirectional Nystagmus as the Presenting Sign of Brain Tumor with Hydrocephalus0
Changes within the Editorial Board and Thanking All the Reviewers and Authors0
Sociodemographic Profiles and Age-Related Differences in Comorbidities, Sleep, and Quality of Life of Turkish Children with Rett Syndrome and their Families0
Volumetric Analysis of Brain Volumes in Pediatric Moyamoya Patients before Revascularization Surgery0
Anatomic Basis of Neurologic Disease0
Repetitive Neuromuscular Magnetic Stimulation to Address Sensorimotor Impairment Caused by Upper Motor Neuron Syndrome in Children and Adolescents0
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate0
MRI Imaging in 10 Children with Enterovirus-Associated Acute Flaccid Myelitis0
5 Years of Concussion Clinic for Children and Adolescents—Where Are We Now?0
Long-Term Follow-Up MR Imaging in Children with Transverse Myelitis0
Generation of an iPS Cell Line from a Patient with Glutaric Aciduria Type I as a New Disease Model for GA10
Fenfluramine Increases Seizure-Free Days in Patients With Lennox–Gastaut Syndrome0
Precision Therapy in KCNQ2-Related Epilepsy0
Biallelic Truncating Variants in PACSIN3 Cause Childhood-Onset Myopathy with hyperCKaemia0
Swallowing Assessment in a Pediatric Case of Allan–Herndon–Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing0
Study of the Lymphocyte Profile in Highly Active Pediatric Multiple Sclerosis Patients before and after Therapy with Fingolimod0
Neocortical and Mesial Temporal Sleep Spindles Are Reduced in Children with Focal Epilepsy and Developmental Delay0
Clinical Presentation of Children with Low-Titer MOGAD0
Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Children with Focal Cortical Dysplasias: Initial Findings in Surgically Confirmed Cases0
Utility and Prognostic Implications of Continuous Electroencephalogram Monitoring in Pediatric Intensive Care0
The Swiss Pediatric Inflammatory Brain Disease Cohort Study: First Insights into Epidemiology0
Correlation of Comorbidities and Variability of Tics in Children with Chronic Tic Disorder0
Quality of Life of Children and Adolescents with Epilepsy Compared to Their Healthy Peers: A Cross-Sectional Study0
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Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome0
Spectral Analysis in Posturography after Pediatric Mild Traumatic Brain Injury0
Brain Magnetic Resonance Imaging of Neonatal Hypoglycemia: Assessing Injury Extent and Potential Cause0
Hamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures—Long-Term Follow-Up of 12 Years0
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood0
Cogan's Lid Twitch Sign in a Child with Congenital Myasthenia0
Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration0
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review0
Clinical and Electrophysiological Features Predicting Response to Antiseizure Medications in Juvenile Absence Epilepsy0
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine0
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study0
NCSE in a Child with Angelman Syndrome0
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype0
Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review0
Prenatal Diagnosis of ANKLE2-Related Microcephaly Mimicking Zika Infection0
Distinction of Cognitive Phenotypes in Pediatric-Onset Multiple Sclerosis0
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Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data0
Characterization of Two rtTA/Ngn2-Transduced Pluripotent Stem Cell Lines from an Individual with SSADH Deficiency0
Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)—A Quantitative EEG Study0
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy0
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Neonatal Hypoxic–Ischemic Encephalopathy: Perspectives of Neuroprotective and Neuroregenerative Treatments0
Clinical and Imaging Features of Children with Autoimmune Encephalitis and GFAP Antibodies0
Significant Seizure Reduction in Pediatric Participants with Early-Onset SCN2A Developmental and Epileptic Encephalopathy Following Treatment with Elsunersen, a Novel Antisense Oligonucleotide: Findin0
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