Neuropediatrics

Article	Citations
ADHD: Current Concepts and Treatments in Children and Adolescents	119
A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration	19
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy	15
Recent Advances in the Diagnosis and Treatment of Neonatal Seizures	12
Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection	10
Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report	10
Imaging in X-Linked Adrenoleukodystrophy	9
Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics	9
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation	8
Visual Impairment and Functional Classification in Children with Cerebral Palsy	8
Improving Management of Infantile Spasms by Adopting Implementation Science	8
PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases	8
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters	8
Multicenter Experience with Nusinersen Application via an Intrathecal Port and Catheter System in Spinal Muscular Atrophy	8
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	8
Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature	7
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center	7
Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment	7
Apgar Score and Risk of Cerebral Palsy in Preterm Infants: A Population-Based Cohort Study	7
Test–Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (GOAL) Questionnaire for Children with Ambulatory Cerebral Palsy	7
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy	7
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	7
Gross Motor Function in Children with Congenital Zika Syndrome	7
Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report	7
Management of Neurological Emergencies in Children: An Updated Overview	7

Neonatal Hypoxic–Ischemic Encephalopathy: Perspectives of Neuroprotective and Neuroregenerative Treatments	6
Atypical Presentation of Fulminating Subacute Sclerosing Panencephalitis: A Case Series	6
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease	6
Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype	6
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition	6
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder	6
Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients	6
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia	6
Clinical Features and Outcomes of Streptococcus pneumoniae Meningitis in Children: A Retrospective Analysis of 26 Cases in China	6
Hepatic Involvement in Aicardi-Goutières Syndrome	6
Headache in Children and Adolescents: The Association between Screen Time and Headache within a Clinical Headache Population	5
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant	5
Neurodevelopmental Profile in Children Affected by Ocular Albinism	5
Severe Locked-In-Like Guillain–Barré's Syndrome: Dilemmas in Diagnosis and Treatment	5
Cardiac Myxoma as a Rare Cause of Pediatric Arterial Ischemic Stroke: Case Report and Literature Review	5
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency	5
Rate of Anti-NMDA Receptor Encephalitis in Ovarian Teratomas	5
Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies	5
Impact of Tourette Syndrome on Education	5
Quality of Life and Its Association with Level of Functioning in Young Children with Cerebral Palsy	5
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death	5
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants	5
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option	5
Benign Acute Childhood Myositis: Our Experience on Clinical Evaluation	4
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases	4
Is Botox Right for Me: When to Assess the Efficacy of the Botox Injection for Chronic Migraine in Pediatric Population	4
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study	4
Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales	4
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency	4
The Direct Costs of Dravet's Syndrome before and after Diagnosis Assessment	4
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant	4
Tonic Tics in Gilles de la Tourette Syndrome	4
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia	4
Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy	4
A Rare Presentation of Neurobrucellosis in a 6-Year-Old Pediatric Patient with Sagittal Sinus Thrombosis	4
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease	4
Tolosa-Hunt Syndrome in Childhood and Adolescence: A Literature Review in the Last 10 Years	4
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features	4
Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy	4
Anti-GFAP Antibody-Associated Hypertrophic Pachymeningitis	4
Moyamoya Syndrome in an Infant with Aicardi–Goutières and Williams Syndromes: A Case Report	4
Clinical Outcome Data of Children Treated with Cannabis-Based Medicinal Products for Treatment Resistant Epilepsy—Analysis from the UK Medical Cannabis Registry	4
How to Detect Isolated PEX10-Related Cerebellar Ataxia?	3
Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1	3
Make Bayley III Scores Comparable between United States and German Norms—Development of Conversion Equations	3
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS	3
Post-CMV Guillain-Barré Syndrome with Anti-GM2 Antibodies: Two Cases and a Review of the Literature	3
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	3
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder	3
The Impact of “Fear of Falling” on Physical Performance, Balance, and Ambulation in Duchenne Muscular Dystrophy	3

Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome	3
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion	3
Neuropsychological Phenotypes of Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Associated Disorders: A Case Series	3
Benign Convulsions with Mild Gastroenteritis—An Underestimated Phenomenon?	3
Risk Factors for Mortality among Newborns with Neonatal Seizures	3
Exposure and Response Prevention for Children and Adolescents with Tourette Syndrome Delivered via Web-Based Videoconference versus Face-to-Face Method	3
The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital	3
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature	3
Hyperkinetic Seizures with Ictal Fear as Localizing Ictal Signs in MRI-Negative Medial Frontal Lobe Epilepsy	3
Percutaneous Endoscopic Gastrostomy Feeding in Children with Cerebral Palsy	3
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature	3
Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations	3
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis	3
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants	3
PredictMed: A Machine Learning Model for Identifying Risk Factors of Neuromuscular Hip Dysplasia: A Multicenter Descriptive Study	3
Effect of Long-Term Repeated Interval Rehabilitation on the Gross Motor Function Measure in Children with Cerebral Palsy	3
Clinical Conundrums When Integrating the QbTest into a Standard ADHD Assessment of Children and Young People	3
Incidental Pediatric High-Flow Nongalenic Giant Pial Arteriovenous Fistula	3
Arterial Ischemic Stroke—Peculiarities of Clinical Presentation and Risk Factors in Indian Children	3
Cranial Ultrasound Is an Important Tool in the Recognition of Life-Threatening Infratentorial Hemorrhage in Newborns	2
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review	2
Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease	2
Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects	2
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	2
Favorable Response to “Memantine” in a Child with GRIN2B Epileptic Encephalopathy	2
Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1	2
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual	2
Detection of Global Brain Injury Using Point-of-Care Neonatal MRI Scanner	2
Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome	2
Recurrent Isolated Sixth Nerve Palsy in Childhood—Review on a Rare Phenomenon	2
Outcome Analysis of Severe Hyperbilirubinemia in Neonates Undergoing Exchange Transfusion	2
Characterization of Neuropsychological Outcomes in a Cohort of Pediatric Patients with Moyamoya Arteriopathy	2
“Leukodystrophy-Like” Phenotype in Anti-MOG Antibody-Associated Disorders	2
Exposure and Response Prevention: Evaluation of Tic Severity Over Time for Children and Adolescents with Tourette Syndrome and Chronic Tic Disorders	2
Validity and Reliability of the German Version of the CP QOL-Child and CP QOL-Teen Questionnaire	2
Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level	2
Menkes Disease: Clinical Presentation and Imaging Characteristics	2
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy	2
Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors	2
A Novel Homozygous PDE 10A Variant Leading to Infantile-Onset Hyperkinesia	2
Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome	2
Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study	2
Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant	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
Cerebral Toxocariasis as a Cause of Epilepsy: A Pediatric Case	2
Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero	2
Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy	2
Extremely Preterm Birth and Its Consequences—The ELGAN Study	2
TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis	2
Acute Corticosteroid Responsive Meningoencephalitis with Cerebral Vasculitis after COVID-19 Infection in a Thirteen-Year-Old	2
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome	1
Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population	1
The Largest Germline Heterozygous Deletion Encompassing Potocki–Shaffer and WAGR Syndromes Loci to Date: A Case Report	1
Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias	1
Spinal Cord Infarct Due to Fibrocartilaginous Embolism	1
Efficacy, Retention Rate, and Influencing Factors of Ketogenic Diet Therapy in Children with Refractory Epilepsy: A Retrospective Study	1
Potential Risk Factors for Ventriculoperitoneal Shunt Implantation in Paediatric Patients with Posthemorrhagic Hydrocephalus of Prematurity Treated with Subcutaneous Reservoir: An Institutional Experi	1
Gait is not Affected by Hemispherotomy—Case Report from Two Children	1
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant	1
The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family	1
Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor	1
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy	1
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy	1
Psychiatric Manifestations in Patients with Biopterin Defects	1
Epilepsy in Neuropediatrics	1
Cerebral Autoregulation and Neurovascular Coupling after Craniospinal Irradiation in Long-Term Survivors of Malignant Pediatric Brain Tumors of the Posterior Fossa	1
A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report	1
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential	1
Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A	1
Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome	1
Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms	1
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency	1
KCNQ2-Related Epilepsy: Genotype–Phenotype Relationship with Tailored Antiseizure Medication (ASM)—A Systematic Review	1
Juvenile Chronic Inflammatory Demyelinating Polyneuropathy Epidemiology in Sardinia, Insular Italy	1
Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome	1
Neurodevelopmental Outcomes of Neonatal Rotavirus-Associated Leukoencephalopathy	1
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents	1
Potential Risk Factors for Autism in Children Requiring Neonatal Intensive Care Unit	1
Precision Therapy in KCNQ2-Related Epilepsy	1
Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?	1

Family Burden and Epilepsy Surgery in Children with Drug-Resistant Epilepsy	1
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center	1
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection	1
A Child Presenting with a Glasgow Coma Scale Score of 13: Mild or Moderate Traumatic Brain Injury? A Narrative Review	1
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency	1
Clinical Findings on Chromosome 1 Copy Number Variations	1
Vascular Architecture Characters and Changes of Pediatric Moyamoya Disease after Combined Bypass Surgery	1
Differences in Tic Severity Among Adolescent Girls and Boys with Tourette Syndrome During the Pandemic	1
Factors Associated with Nontraumatic Spontaneous Subdural Hematomas in Pediatric Patients	1
No Differences in Cerebral Immunohistochemical Markers following Remote Ischemic Postconditioning in Newborn Piglets with Hypoxia–Ischemia	1
Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV—Enzyme Replacement Therapy: A Case Report	1
Childhood-Onset Multifocal Motor Neuropathy with IgM Antibodies to Gangliosides GM1: A Case Report with Poor Outcome	1
A Presentation of Pediatric Sjögren's Syndrome with Abducens Nerve Palsy	1
Stiff Person Syndrome and Encephalitis with GAD Antibodies with Severe Anterograde Amnesia in an Adolescent: A Case Study and Literature Review	1
Pediatric Epilepsy Surgery: Preoperative Assessment and Surgical Treatment	1
The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy	1
Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy	1
Activin A and Acvr2b mRNA from Umbilical Cord Blood Are Not Reliable Markers of Mild or Moderate Neonatal Hypoxic–Ischemic Encephalopathy	1
Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report	1
Effects of Neonatal Hypoxic-Ischemic Injury on Brain Sterol Synthesis and Metabolism	1
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine	1
TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review	1
Abnormal Spontaneous Blood Oxygenation Level Dependent Fluctuations in Children with Focal Cortical Dysplasias: Initial Findings in Surgically Confirmed Cases	1
High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection	1
The Incidence of Intraventricular Hemorrhage in Low-Birth-Weight Infants: Assessment by Magnetic Resonance Imaging	1
Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau–Kleffner Syndrome	1