Neuropediatrics

• Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report

  NeuropediatricsDOI: 10.1055/a-2491-2141

  Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 (SMN1) gene mutations

• Pain in Children and Adolescents with Cerebral Palsy: A Cross-sectional Survey Study

  NeuropediatricsDOI: 10.1055/a-2474-6503

  Aim This study aims to investigate the prevalence, intensity, and location of pain in children and adolescents with cereb

• Sensory–Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report

  NeuropediatricsDOI: 10.1055/a-2447-1508

  Pathogenic variants in the SMC1A gene are often dominant-negative and cause an X-linked form of Cornelia de Lange syndrome (CdLS) wi

• 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 Review

  NeuropediatricsDOI: 10.1055/a-2442-5810

  Acute necrotizing encephalopathy (ANE) is a severe neurological condition that is diagnosed clinically and upon specific radiologica

• Response to Letter to the Editor: Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy

  NeuropediatricsDOI: 10.1055/a-2437-6075

  Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

  Article in Thieme eJournals:a href="/h</div>"

• Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study

  NeuropediatricsDOI: 10.1055/a-2436-8767

  Objective The study aimed to interpret and establish patterns of amplitude-integrated electroencephalogram (aEEG) in stab

• Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders

  NeuropediatricsDOI: 10.1055/a-2442-5741

  Progressive myoclonus epilepsy (PME) is a rare, clinically and genetically heterogeneous epilepsy syndrome, and pathogenic variants

• Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence

  NeuropediatricsDOI: 10.1055/a-2434-6190

  Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

  Article in Thieme eJournals:a href="/h</div>"

• Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic

  NeuropediatricsDOI: 10.1055/a-2430-0494

  Background Global developmental delay (GDD) is a common pediatric disorder that affects up to 3% of children. Due to the

• Phenotype and Genotype of Children with ALS2 gene-Related Disorder

  NeuropediatricsDOI: 10.1055/s-0044-1791256

  Introduction The Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) gene encodes a protein alsin that functions as a

• Frequent Unrecognized Vertebral Fractures Associated with Increased Body Fat Mass in Children and Adolescents with Duchenne Muscular Dystrophy

  NeuropediatricsDOI: 10.1055/a-2417-0441

  Objective Patients with Duchenne muscular dystrophy (DMD) have an increased risk of vertebral fractures (VFs). Ethnic var

• Neuropediatrics 2024; S 01 Article in Thieme eJournals: Table of contents

  Neuropediatrics 2024; S 01

  Article in Thieme eJournals:Table of contents  |  

• Precision Medicine in Angelman Syndrome

  NeuropediatricsDOI: 10.1055/a-2399-0191

  Angelman syndrome (AS) is a rare neurogenetic disorder caused by a loss of function of UBE3A on the maternal allele. Clinical featur

• Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques

  Neuropediatrics 2024; 55: 277-278DOI: 10.1055/s-0044-1789235

  Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

  Article in Thieme eJou

• The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study

  NeuropediatricsDOI: 10.1055/a-2380-6743

  Introduction Acute altered mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cann

• Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center

  NeuropediatricsDOI: 10.1055/a-2379-7069

  Background Due to the limited data from clinical trials and real-world settings in the realm of nusinersen, there is a ne

• Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients

  NeuropediatricsDOI: 10.1055/s-0044-1789014

  Background Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizur

• Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan

  NeuropediatricsDOI: 10.1055/a-2366-8580

  Background Hydrocephalus is a neurological disease with higher prevalence in the pediatric population, often managed by p

• Assessment and Prognostic Resources for Gross Motor Development in a Child with Cerebral Palsy Related to Congenital Zika Syndrome

  NeuropediatricsDOI: 10.1055/s-0044-1788983

  This article describes how the Gross Motor Ability Estimator (GMAE) software can provide important information based on the Gross

• Brain Magnetic Resonance Imaging of Neonatal Hypoglycemia: Assessing Injury Extent and Potential Cause

  NeuropediatricsDOI: 10.1055/s-0044-1788975

  Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

  Article in Thieme eJournals:a href

• The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine

  NeuropediatricsDOI: 10.1055/s-0044-1788787

  Background Very few studies have examined the relationship between calcitonin gene-related peptide (CGRP) and amylin l

• Evaluation of the Behavioral Effect of Psychostimulants in Children with Autism Spectrum Disorder: A Cross-Sectional Study

  NeuropediatricsDOI: 10.1055/s-0044-1788891

  Background Autism spectrum disorder (ASD) is often accompanied by comorbid conditions such as attention deficit hypera

• 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 Years

  NeuropediatricsDOI: 10.1055/s-0044-1788730

  Purpose Hamartomas of tuber cinereum present as ectopic tissue in the hypothalamic region. Clinically, the usual hypot

• Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes

  NeuropediatricsDOI: 10.1055/s-0044-1788661

  Background Supratentorial intraventricular tumors, encompassing lateral and third ventricular tumors, are uncommon int

• X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples

  NeuropediatricsDOI: 10.1055/s-0044-1788333

  X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy that commonly manifests with liver involvement. In most XLMTM