Abstracts of the 41st Annual Meeting of the Society of Neuropediatrics

Abstracts (HTML) Autorenliste

Haak, T.

Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report

Haas-Lude, K.

Clinical and Imaging Findings and Postoperative Esthetic Results in Patients with Single or Bilateral Coronal Synostosis

Haberlandt, E.

Headache and Focal Status Epilepticus as Initial Symptom of POLG Mutation

Hachmann, W.

Life-Threatening Complication of Spastic Cerebral Palsy: Atlantoaxial Instability

Hafner, P.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Hahn, A.

Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face
Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly
Sulcal Artery Syndrome in a 10-Year-Old Boy

Hahn, G.

Novel Mutation in the DCK1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome as a Rare Differential Diagnosis in Primary Microcephaly, Cerebellar Hypoplasia, and Severe Developmental Delay with Progressive Bone Marrow Failure

Hamelmann, E.

Case Report of a Patient with partial Trisomy 13q21.1qter

Hartenstein, S.

Pontine Tegmental Cap Dysplasia in an Extremely Low Birth Weight Preterm Infant

Hartig, M.

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Hasselmann, O.

Crosstalk between Doctors, Ethicists, and Economist for the Good of Neuropediatrics

Hauffa, B.

Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

Haug, V.

Connatal Nutritional Deficiency of Vitamin B12 in a Newborn with Early Neurologic Symptoms

Häusler, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study
Spinal Hemorrhage: An Interdisciplinary Emergency

Häußler, M.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study
Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Hehr, U.

Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia
Genotype and Phenotype in 34 Families with Genetically Confirmed Walker-Warburg Syndrome or Muscle Eye Brain Disease
Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Heimgärtner, M.

Executive Dysfunction in Neurofibromatosis Type 1: Comparison to Idiopathic ADHD

Heinemeyer, J.

ASAH1 Mutation in a Boy with Non-5q SMA and Progressive Myoclonic Epilepsy

Heinen, F.

Clinical Neurophysiology in Dizzy Children: Which Tests do I Need?
Health-Related Quality of Life of Children with Vertigo: Retrospective Study at the German Center for Vertigo and Balance Disorders

Heininger, U.

Acute Hemiparesis Revealing Neuroborreliosis in a 3-Year-Old Boy

Hellenbroich, Y.

Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome

Heller, C.

Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases

Helmke, F.

Rolandic Epilepsy: Retrospective Analysis of Neuropsychological and Clinical Data
Cognitive Development in Children with Rolandic Epilepsy: Results of a Current PubMed Search

Hennig, J.

Fast fMRI Sequence Allows for Analysis of BOLD Responses to Single Interictal Epileptic Spikes

Herberhold, T.

Retrospective Analysis of Tetrahydrocannabinol Based on 31 Neurologically Critically Ill Children
Focal Cortical Dysplasia in a Family with KCNQ3 Mutation

Herbst, S.

Unraveling the Genotype-Specific Response to Antiepileptic Medication in LIS1 Associated Classic Lissencephaly

Herkenrath, P.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Hernandez Castellano, M.

Neurogenic Thoracic Outlet Syndrome: A Rare Differential Diagnosis of upper Extremity Paresthesia in a Pediatric Patient

Herting, E.

Very Low Birth Weight Infants in Germany: How many Therapies Do They Get until Preschool Age?

Heußinger, N.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study
Becker Muscular Dystrophy in a 2-Year-Old Boy caused by a Novel Missense Mutation p.Arg145Pro in the Dystrophin Gene

Heyer, C.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Hilgendorff, A.

Association between Analgosedation of Premature Infants Using Fentanyl with Neurodevelopmental Outcome at the Corrected Age of 24 Months

Hilker, C.

Improved Muscle Function in Duchenne Muscular Dystrophy using a Combination of L-Arginine and Metformin

Hinderhofer, K.

Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses
Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Hjalgrim, H.

Therapy and Clinical Course in 52 Patients with PCDH19 Mutations

Hoffjan, S.

Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene

Hoffmann, G.

Diagnostic Pitfalls in Tuberculous Meningitis
Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans
Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses
Bohring-Opitz Syndrome: Mutation in the ASXL1 Gene as a Rare Cause of Mental Retardation with Failure to Thrive and Characteristic Phenotype
Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis

Hoffmann, J.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy
Somatic PIK3CA Mosaic as a Cause of Hemimegalencephaly and Congenital Infiltrating Lipomatosis of the Face

Hofmann, R.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Hofstetter, P.

Oligoclonal Bands Predict Multiple Sclerosis in Children with Isolated Optic Neuritis: A Retrospective Multicenter Cohort Study

Hörtnagel, K.

Comprehensive NGS-Based Diagnostics in over 800 Patients with Epileptic Encephalopathy
Diagnostic Panels: A Powerful Tool to Identify the Underlying Genetic Cause in Neuromuscular Diseases
Focal Cortical Dysplasia in a Family with KCNQ3 Mutation
Video-Documented Long-Term Follow-Up of a 10 Years' Old Girl with Severe Dyskinesia and Paroxysmal Choreoathetosis: A Variant Ataxia-Telangiectasia (A-T)

Hubacher, M.

Internetwork Connectivity Alterations in Children with Benign Epilepsy with Centrotemporal Spikes

Huisman, T.

Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation
Cerebellar Cysts in Children: A Pattern-Recognition Approach

Hummel, T.

The Depth of the Olfactory Sulcus in Normosmic Children and Adolescents
Olfactory Function in Head Trauma Patients a Link to Frontal Brain Damage?

Huppke, P.

Bone Marrow Transplantation in a Mouse Model for Rett Syndrome

Hurni, Y.

Arrested Hydrocephalus in Children: Report of Five Consecutive Cases and Comprehensive Review of the Literature

Husain, M.

Design of a Confirmatory Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study (ACT DMD) of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy